Ladies and gentlemen, thank you for standing by, and welcome to the PTC Therapeutics First Quarter 20 20 Financial Results and Corporate Update Conference Call. At this time, all participant lines are in a listen only mode. After the speakers presentation, there will be a question and answer session. Please be advised that today's conference is being recorded. I would now like to hand the conference over to your speaker today, Alex Kane, Head of Investor Relations at PTC Therapeutics Thank you.
Please go ahead, sir.
Good afternoon and thank you for joining us to discuss the PTC Therapeutics first quarter 2020 corporate updates and financial results. I hope that everyone is doing well and staying safe. Joining me on today's call is our Chief Executive Officer, Stuart Peltz our Chief Financial Officer, Emily Hill, as well as Matt Klein and Eric Powell, who have recently appointed Chief Development Officer and Chief Business Officer, respectively. Before we start, let to review the slides posted on our Investor Relations website in conjunction with the call, which contains our forward looking statements. Our actual results could materially differ from these forward looking statements as any and such risks can materially and adversely affect our business and results of operation.
For a detailed description of applicable risks and uncertainties, we encourage you to review the company's most recent quarterly report, Form 10Q and annual report, Form 10 K filed with the Securities And Exchange Commission, as well as the company's other SEC filings. We will disclose certain non GAAP information during this call. Information regarding our use of GAAP and non GAAP financial measures and a reconciliation of GAAP to non GAAP is available in today's earnings release. With that, let
me pass the call over
to our CEO, Stuart Peltz.
Thanks, Alex. And thank you for joining us today as we provide an update on the first quarter. I hope that everybody is staying safe and healthy amid these challenging times. I'm incredibly proud of how the PTC team has responded to the COVID-nineteen crisis. Recognizing the seriousness of COVID-nineteen and acting early.
In late February we understood the threat and set up a COVID-nineteen task force that included individuals from all areas of expertise of BDC, including physicians, public health experts and epidemiologists, that understood the implications of the viral pandemic. This team immediately implemented a plan to safeguard the health and safety of our employees and This task force continues to meet and refined processes that allow us to remain productive and safe. We have a second task force that focuses on critical aspects of our business to ensure access to our therapies. This cash force is continually assessing issues that could arise with our clinical programs, manufacturing, supply chain research as well as the commercial business. Assessing how well they are functioning.
Patient services and engagement teams are now working together to ensure that patients have the necessary access to treatment. We have also created a 3rd COVID-nineteen task force whose mission is to look at what is next and think through the strategies we should employ as the world begins to open from being locked down. Their job is strategize multiple scenarios of what will be needed to be successful in different places As a result of these efforts, our teams have adapted and have continued to execute. Field teams are engaging with the physicians identifying patients and driving awareness of our commercial they are doing so remotely using the number of digital approaches. Our scientists have also continued to work in the laboratory to drive critical research programs forward.
We have put safeguards in place, including staggered shift to allow reduced interaction, so that they can work in a safe environment. As all companies in the industry have experienced, ongoing and planned clinical trials have been impacted as hospitals and healthcare providers focus on treating COVID-nineteen patients and have slowed or closed sites. The effects of COVID have also impacted regulatory filings in our gene therapy programs. Matt will talk more about these programs. Overall, I'm proud of the organization's response to COVID-nineteen crisis.
We have a strong capital position with more than $595,000,000 on our balance sheet as of the end of first quarter. We're being both strategic and prudent about capital allocation. As an example, because of COVID's potential impact, we have deferred certain capital expenses at our Hopewell facility I now anticipate that GMP Manufacturing of Clinical Material at this facility will begin in early 2021. I also These include the strong team that we have in our place, our global commercial infrastructure and commercial products that can be delivered and administered to the patients at home. And for the first time SMA patients will have the potential opportunity for an at home therapy.
In addition, we have a diverse rare disorder pipeline with multiple upcoming catalysts. Let me now focus the meaningful and positive results for risdiplam in both the SUNFISH pivotal study for type 2 and 3 SMA patients and the Firefish pivotal study in the Type 1 SMA patients. We anticipate an approval with a broad label later this year. Earlier this week, along with our partners Roche and the SMA Foundation, we shared the positive 12 month results of the Firefish Part II pivotal study. The Firefish Part II study results are quite exciting and show the importance of increasing SMM protein systemically, demonstrating the achievement of motor functions and developmental milestones such as ability to roll over, sit and stand.
The study met its primary endpoint of patients sitting without support at 12 months and was highly statistically significant. 12 or 41 patients or 29 percent met the milestone with a P value of less than 0.0001. Considering the median age and enrollment was 5.3 months and that these infants already had progressed disease. These results are particularly exciting. Importantly, this study also met all its key secondary endpoints.
This included the CHOP INTAN HINI-two and event free survival. 90 percent of all infants in this study showed CHOP INTEN improvement from baseline. With a median change from baseline of 20 points. Part 2 showed even greater improvements in patient's ability to stand and walk as assessed by Hyny 2 than were observed in part 1 to 12 months. One patient in Firefish Part 2 reached a bouncing milestone a key component of developing the ability to walk.
After 12 months of treatment with Risdiplan 93% of infants were alive, 85% were without permanent ventilation and 95% of patients maintained the ability to swallow. As Doctor. Surveyed pointed out on the Roche call, this is particularly impressive when compared to other therapies as the bowel bowel function benefits may reflect a small molecule's ability to reach the brainstem. In contrast, in the natural history of the SMA Type 1, The median age of death or permanent ventilation is 13.5 months and all infants with Type 1 SMA older than 12 months require feeding support. Overall, it's clear that these results are highly compelling.
As we communicated recently, The FDA extended the PDUFA data of Risdiplim to August 24th due to the submission of additional data from SUNFISH BART-two The inclusion of these data in this submission is anticipated to support broad access and reimbursement to RizaPlan, for the widest range of SMA patients. Importantly, the FDA has identified no substantive Roche's careful preparation has assured ample risk to plan drug supply. Roche is working proactively with its partners in the SMA community and its logistic providers to ensure drug supply upon launch in the current COVID-nineteen environment. As part of Roche's pre launch commercial efforts, several early access programs have been initiated. Earlier this year, early access programs were open to the United States and European Countries for Type 1 SME patients.
Recently, it was announced that the program has been expanded to include Type 2 SMA patients. Importantly, in response to requests received from type 1 and type 2 patients whose current treatment has been interrupted, as a direct consequence of the COVID 19 pandemic. Roche has decided to amend the programs to allow for these patients to be able to receive risdiplam. These requests for risdiplam demonstrate that a significant unmet need exists within the SMA population The need for an oral therapy that is taken at home is shown to be even more critical for patients as they try to navigate through the COVID-nineteen pandemic. In fact, riseprem would be the only available SMA therapy that does not require clinic visits for administration, an important concern for patients with respiratory complications.
We expect that Risdiplan will be the most competitive global product for a broad range of SMA patients and anticipate a robust launch both. Risdipline was the 1st compound arising from our splicing platform. One advantage of being a Nora compound is that it's systemic so that it is in the blood and can get to all affected tissues. A second advantage is the ability to measure Risdiplines pharma dynamic effect on SMN2 mRNA and SMN protein in blood or other easily accessible tissues. As you may recall, we successfully utilized this approach in Risdiplan Phase I studies where we demonstrated proof of concept of its activity in healthy volunteers.
We plan to use the same approach in other splicing programs. This same approach will be used in PTC-five eighteen in Huntington disease. PTC-five eighteen is a development candidate from our Huntington program and an IND toxicology studies are ongoing. Strong year over year first quarter growth with our DMD franchise with revenues of $68,000,000. We are reporting $40,500,000 in worldwide Translarna sales and $27,500,000 in U.
S. Emflaza sales. In addition, we continue to see positive trends in the weeks following the first quarter. Nevertheless, we cannot predict the duration and severity of Therefore, until we have further understanding of the effects of COVID and on our revenues, we are withdrawing our 2020 financial guidance at this time. I also want to talk about Analyst Day.
It's becoming increasingly clear that hosting an Analyst Day in Mid June in New York City would not be in the best interest of the health and safety of either our employees or guests. We will postpone the meeting and switch to hosting multiple webinars in which we do deep dives into our programs and platforms, we'll be shortly posting the date of which the first deep dives will occur. We believe and Eric and Emily. For Matt and Eric, we welcome them to the executive team and their first debut on the quarterly calls. Matt will now update you on the status of the clinical programs.
Eric will cover more on the commercial business update and Emily will give a financial update. So let me now turn it over to Matt. Matt?
Thanks, too. I'm thrilled to join the executive management team at PT and I look forward to the continued catalysts, even in light of the current environment. In terms of timing updates for our clinical programs, I will start with study O45, the U. S. Translarna Dysjifin study.
Due to COVID-nineteen, the O45 study site is closed to elective procedures which has delayed the study completion as a few patients still require final study muscle biopsies. Based on the site's current timelines, we now anticipate reporting top line data in the third quarter. We expect that in combination with our existing clinical data statistically significant results in 4.5 would be sufficient for accelerated approval in the U. S. As a reminder, this is a single site 40 week study that enrolled 20 boys aged 2 to 7 years with nonsense mutations.
The primary endpoint is percentage dystrophin change from baseline as measured by Electrochemiluminesse or ECL. In close collaboration with the FDA, we developed and validated an ECL liquid based assay that is highly sensitive, highly linear, and particularly well suited to identify large pro teams such as the link distribute. Turning now to our splicing platform, Stu detailed the exciting results for Risdiplam, our first small fuel from this platform. Our next splicing program in Huntington disease remains on track with initiation of clinical studies and healthy volunteers start prior to the end of the year. These Phase I studies will include both single and multiple ascending dose regimens order to inform safety and pharmacokinetic parameters.
We expect these studies will be relatively straightforward and support dose selection to achieve target Huntington RNA reduction levels in the range of 50%. Shifting to our BioE platform, Due to COVID-nineteen, we now expect to initiate potential PTC-seven forty three registrational trials in refractory mitochondrial epilepsy in the third quarter and in Friedreich Ataxia in the fourth quarter. We will initiate these studies once the planned study sites reopen and are available for clinical trials and of course, once we can ensure patients can safely travel to and from study sites. The phase 1 trial of PTC 85 7, which is being developed for GBA Parkinson's disease as its first indication, remains on track to start in the third quarter. As we have discussed previously, the BioE platform is complimentary and synergistic with our other platforms.
PTC 743 and PTC 857 target 15 lipoxygenase, a key enzymatic that regulates the inflammation and oxidative stress that underpinned mitochondrial and CNS disease pathology. PTC 743 has been tested in over 400 C as well as favorable safety signals and expanded access and compassionate use studies in patients with mitochondrial disease PTC-seven forty three has had a clear impact on refractory seizures, reducing the number of patients seizures, as well as seizure related morbidity including hospitalizations. In addition, in a phase 2 trial in Friedreich ataxia, PTC-seven forty three demonstrated statistically significant impact on disease severity at 24 months relative and stage match natural history controls as assessed by the validated FARS score. For PTC 857, The compelling preclinical data and its target mechanism of action strongly support its development for Parkinson's disease. The target of 15 lipoxygenase is a very important upstream modulator of multiple pathways known to be key to Parkinson's disease pathogenesis, including alpha synucleinoxidation and aggregation and microglial activation a driving factor in neuroinflammation.
Therefore targeting 15 lipoxygenase allows us to simultaneously affect multiple pathways, while many current therapies in development target only 1 of these pathways. Moving on to our gene therapy platform and associated updates, As Stu noted, COVID-nineteen has impacted our gene therapy program timelines. COVID-nineteen has impacted multiple IND enabling activities. We currently anticipate the IND filings will be delayed at least 1 quarter and we plan Moving to our AADC deficiency program. Manufacturing activities are continuing and remain on track.
The gating factor for the BLA submission remains the study of the use of the commercial cannula in young patients. These treatment procedures have been delayed by hospital cancellations of elective procedures due to COVID19. Therefore, now expect the BLA submission for AADC deficiency to the FDA will be in the second half of twenty twenty. As a reminder, the MAA for the AADC deficiency program was submitted to the EMA in January and timelines remain in place for the CHMP final opinion by the end of the year. Overall, despite COVID-nineteen related delays, we still expect a number of exciting and impactful clinical catalysts in the coming months.
I will now pass the call to Eric Powell to provide an update on the commercial business. Thanks. To echo Matt's comments, I am delighted to join the executive management team at PTC. With the strong first quarter behind us and important upcoming milestones this year, we will continue to build on our the existing portfolio of revenue generating products, prepare for future launches and remain selective with business development opportunities. Currently, on the commercial side of the business, our top priority is ensuring that patients on treatments have the necessary drug supply.
And we have not seen significant disruptions to date. With personal promotion from our sales team worldwide limited by COVID-nineteen, We continue to engage with healthcare providers, patient advocacy groups and payers by driving DMD disease awareness activities through virtual calls, DMD Masterclass webinars, and educational podcasts as well as leveraging Social media is playing an even important role in the current environment, especially for DMD patients seeking information about our products. Both in terms of maintaining New patient growth was driven in part by diagnostic and educational efforts over the last several months. And we continue to see these efforts positively impacting We saw continued growth in Q1 and positive trends both in diagnosis and prescriptions globally. In the EMEA region, We have successfully maintained adherence in compliance with patients on Transvarna and have seen minimal disruption.
In the LatAm region, we continue to have ongoing discussions with the Ministry of Health in Brazil to secure future purchase orders. And we have seen the number of positive injunctions that will allow patient access Importantly, we continue to Street and SynergyDMD natural history study, highlighting the long term efficacy of Translarna. For Emflaza, our U. S. Commercial and PTC Cares case management team has been fully engaged and made significant impact in the first quarter of 2020, driving enhanced customer service and improving efficiencies with new patient starts reauthorizations, and patient adherence and compliance.
We expect these ongoing improvements will continue through the next quarter. In the first quarter of this year, patients moved faster from time of new prescription to commercial therapy and patients previously on bridge therapy and patient assistance programs transition to commercial therapy more rapidly. In addition, physicians continue to see the differentiated benefits of Emflaza continued by multiple publications including the recent data from Cincinnati Children's Hospital real world outcomes demonstrating Emflaza's benefits such as delaying loss of evaluation better compared to prednisone. Now let's turn to TEGSEDI. Our launch activities are still progressing despite the current environment with our focus now on pricing discussions in Brazil.
Which we expect to be approved at home therapy in Brazil with slowing disease progression and quality of life indicated in the label In the first quarter we saw continued growth in new patient identification and prescriptions in LatAm. As a reminder, Brazil has the largest prevalence of hATTRM Lidosis polyneuropathy patients worldwide. Building on our core capabilities in LatAm, we anticipate a Waylivra filing with ANVISA in the second half of this year. And continue to identify new FCS patients Turning to AADC deficiency, pre launch activities continue to progress. We have adapted to the current environment by implementing virtual education and patient finding initiatives including conducting multiple master class with over 200 healthcare providers in attendance from over 20 countries.
We also rolled out a program called the Roadless traveled for finding a path towards early patient diagnosis. We've also held multiple European We recently launched social media campaigns utilizing expert videos focusing on symptoms, and directing viewers to disease state websites. Finally, patients continue to be identified as our teams push forward with virtual healthcare provider meetings to diagnose new patients in cerebral palsy and epilepsy clinics. Looking back at the quarter the home based administration of our commercial products allowed us to maintain our current base of patients and add new patients even as the COVID 19 pandemic started to take hold. As a result, the near in the near term, we anticipate continuity of supply to the existing base of patients, some continued growth with new patients for both Translarna and Emflaza, and continued operational improvements.
I will now hand the call over to our Chief Financial Officer Emily Hill to review our financial progress.
Thanks, Eric, and congratulations to Eric and Matt for their promotion. We are happy to have you on over year and with the positive tailwinds from the first quarter continuing into April. We feel well prepared to handle the current environment as we have highlighted this after but due to lingering uncertainty regarding the duration and the degree of the impact of COVID-nineteen, we are withdrawing financial guidance for 2020. As you have heard reflected throughout today's call, we have given a great deal of thought to cost, timelines and prioritizations throughout the COVID-nineteen pandemic. We are fortunate to have a portfolio of home administered commercial products, diverse assets across multiple platforms and the ability to shift resources as needed.
Strategically, we have identified trade offs where we can push forward certain programs and be more conservative of capital intensive programs. Such as deferring some capital expenditures for our Hopeful Biologics manufacturing facility for future commercial products. This doesn't impact our production of near term commercial and clinical programs such as AADC deficiency and Friedreich's ataxia gene therapy that allows us to conserve some as we move through this uncertain time. And I want to take a few minutes to highlight the first quarter 2020 financial results. Press release issued earlier this afternoon summarizes the details of our first quarter 2020 financial results, and I will review these details now.
Starting with our top line results, we reported $68,300,000 in total revenues in the first quarter of 2020 compared to total revenues of 53 point $6,000,000 for the first quarter of 2019. Translarna net product revenues were $40,500,000 for the quarter. This compares to 35,300,000 the first quarter of 2019. Growth was driven by an increase in net product sales in existing markets as well as continued geographic expansion into new territories. For Emflaza, we reported net product revenues of $27,500,000 for the first quarter of 2020 compared to 17,800,000 the first quarter of 2019.
Growth was driven by an increase in net product sales due in part to the operational improvements and efficiencies noted by Eric earlier. Non GAAP R and D expenses were $81,900,000 for the first quarter of 2020, excluding $8,200,000 in non cash stock based compensation expense compared to $47,900,000 for the first quarter of 2019, excluding $4,700,000 in non cash stock based compensation expense. The increase in R And D expense reflects costs associated with advancing the gene therapy and BioE platforms and increased investment research programs as well as advancement of the clinical pipeline. Non GAAP SG and A expenses were $51,200,000 excluding $7,000,000 in non cash stock based compensation expense compared to $36,000,000 for the first quarter of 2019, excluding $4,600,000 in non cash stock based compensation expense, reflecting continued investment to support our commercial activities, including our expanding commercial portfolio. Net loss was $112,700,000 for the first quarter of 2020 compared to net loss of $72,100,000 for the first quarter of 2019.
Cash, cash equivalents and marketable securities totaled $595,900,000 at March 31, 2020, compared to $686.6 wanted to share the details of the transaction we completed this week with the former shareholders of Agilis that removed liabilities from our balance sheet. As you are probably aware, as part of our acquisition of the gene therapy platform, we Otajil's future cash milestone. We are pleased to have exchanged a subset of those cash milestones cash and PTC stock. The future milestones include $40,000,000 of time based milestones that were owed in August 2020 and 185 of cash milestones we expected to pay in 2021 upon the approval of the AADC deficiency BLA and the receipt of a priority review voucher. Almost 95% of former Gillist shareholders elected to exchange 2021 milestones for approximately 2,800,000 shares of PTC stock and an early receipt of the 2020 cash.
This alleviates P2C of significant cash liabilities, especially in 2021, while we advance our gene therapy platform. I will now hand the call over
Our
first question comes from the line of Brian Abrahams from RBC Capital Markets. Your line is now open.
Hi. This is Bert on for Brian tonight. Congrats on all the progress and you're handling the COVID situation. I just wonder if you could talk a little bit about how much progress you've been able to make on the additional study of the AADC gene therapy and catheter combination prior to the pandemic and then guess what types of data from that study do you need to complete the filing?
Yes. Thanks for that question. So yes, so we were making progress with the AADC clinical trial. Why don't you actually talk through what you would do, what we were doing and the next step?
Yes. Thanks, Sue, and thank you for the question. As you mentioned, we, towards the end of 2019, we had received feedback from the FDA on additional data around the use of the intended commercial cannula in young patients. As a reminder, the clinical efficacy in our AADC deficiency program is quite strong. Benefit out to 10 years and we of course have a strong safety profile.
Manufacturing also remains on track and we were able to submit the MAA to EMA in January. And so the key gating item for the BLA was the treatment of first quarter. And due to the hospital closure for elective surgeries, those procedures have been pushed back likely to be done sometime towards the end of Q2, possibly early Q3. And so once we have those surgeries and the data from that, we'll be able to continue that preparations, for BLA submission.
Just having the pandemic fell upon us. So that could just take a little time to move forward on.
Our next question comes from the line Valicia Young from Cantor. Your line is now open.
Hi there. This is Lee on for Alicia. Thanks for taking our questions. I guess the first one is on COVID-nineteen. I'm just wondering, are you seeing any changes in buying patterns for Translarna, and then how do you manage to keep the access for patients?
And then second, for the Fireflies data, how do you think, explant matches up to SPINRAZA and Zalgesma in type 1 patients? And then for, the cell stage data, is there any plan to present, subgroup analysis, particularly around age from the data set? Thanks.
Okay, great. Well, thank you. So maybe we'll start with the first one, which is on Translarna for that matter on the plaza as well. I think you could see from the numbers, we had actually a good quarter. And I think as both Eric and Emily talked, we are in we saw the numbers continuing on.
So, the distribution remains ongoing. And I think we, we feel patients have been able to pin the order. Eric, maybe you want to talk a little bit about how do you see what's coming up in the, for the next quarter or 2?
Yes. Sure, Stu. And Thanks for the question. We're seeing continued growth in the number of patients on both products. It was DMD Translarna and Emflaza.
And we haven't seen any actually decline in orders. But actually what happens is we've actually been able to establish even deeper relationships with our healthcare providers and in some cases, payers and advocacy groups during the pandemic. I think our main focus right now is really to provide, that current base of patients we have on Emflaza and Translarna, a continuity of supply And we haven't seen any sort of major upticks if the question is centered around our people asking for multiple months There have been a few patients that have asked for 90 day supplies of Emflaza, but generally the vast majority of patients have been getting monthly supplies in the quarter. That may tick up a little bit, but it's not very significant. But most importantly, we've been able to really establish our case management team in the U.
S. Has been able to establish a strong sort of connection with many of the DMD patients to ensure that they have all the resources they need. And we currently have adequate and assure them that we have adequate supply in both in Plaza and TransCanada.
And so the second question relates to Risdiplam and in a sense to contextualize how we feel the Risdiplam will do relative to the other products that are out there. It's really our contention that, molecule with efficacy potential. And we I think what you could see from the recent Firefish data is both part 2, but as well one that was compelling efficacy that was seen in that. And that occurred even despite, the older age when you comparisons of that. And that, we saw we, not only did we see that, but we're able also to show durable increase in the S and M protein and changes in the RNA, both in the CNS as well as the periphery.
So that's actually really critical. I think we're the only ones who've been able to show that. And we not only we showed that, but it was in the periphery. Not as much has been talked about of how SMA, but it's becoming clearer and clearer is the whole body disease. While the CMS is critical, it also affects other tissues as well.
And then we think another advantage is that it's really the risdipline itself that is the treatment. You know, there you don't need an intrathecal injection for that, nor do you need to take immunosuppression as a consequence. Of taking the drug. So we think that's really a major advantage. And then we also think that, so far, what we've seen to date was there was no drug related safety findings.
And that we're very proud that we've had the broadest clinical trial program, thus far in treating patients in SMA 1, 2, and 3 patients from 2 to 25 years old, where we've had placebo controlled, trials there. We also have a pre medics to older adults, so from naive to pretreated. So we really have a breadth of a program to demonstrate the efficacy of that, and they've shown that both in the placebo controlled Sunfry trials as well as in the of risdiplam trials. And when you contrast that, say the gene therapy, I think, is what you asked for. And we think that there's little data beyond 3 years in terms of durability.
And even that, we think it's potentially compounded by the follow on therapies that the compound which drug did what in terms of keeping the patient well. We think there were more safety concerns in terms of both the liver and gerry warning systemic corticosteroids are needed, and then you need to be on immunosuppressants for greater 2 months. And then it's really just, it's not approved, for all populations and there's a limited data since greater than 2 years old. So taking that, and we even think when you compare it to NASA Nursing, where the burden of the Nafeco administration is more difficult in patients, say, with scoliosis, then your continuous accumulation of a few lumber punctures. And there have been meningitis and hydrocephalus that's been observed on the safety front and that there's a lack of trial data in patients greater than nine years old.
We think if you take all that into consideration, and look at what Risdipline has done in the whole patient population. Again, we think it's the best in class molecule. Then I think you have one other question too. Yes, that I'm sure we'll be having additional poster over time on the data as accumulance.
Thank you. Our next question comes from the line of Tazeen Ahmed from Bank of America.
Hi, good afternoon guys. Thanks so much for taking my questions. Maybe one on AADC, and then I have a couple more on a couple of other programs. So in the past, you have been starting to give us updates on number of patients that you've been able to identify. Can you give us a refresh number on how many patients, you have as of today?
And also, whether your thinking still is that they're around, let's say, 6000 patients worldwide, that you hope to find over the course of the next several years?
Yes, great. Thanks for that. Yes, so, I'd say that, yes, as we said in January, we at about 200, greater than 200 patients identified at the JP Morgan meeting with continuing to surge. We obviously, have some issues as a consequence of COVID, and I'll have, Eric talk a bit about that. But we're still, comfortable with the numbers that we said that we think is there.
And now it's really a matter of patient identification and then to do so in the right now in the COVID environment is obviously more difficult than previous. And so we're still working hard at that. Eric, maybe want to talk a little bit about, how we're doing this, in the current environment?
Sure. Hi, Pazeen. I think right now, it's pretty safe to say that the COVID environment had a direct impact on patient identification efforts, but we're doing a lot of activities right now and adapting to this new environment. As Steve said, we've identified more than 200 patients at this point. And our goal is to actually get 300 patients identified by 1st country launch, whether that's in the U.
S. Or Europe, we have had a number of initiatives, particularly in Q1. And when things started to slow down a little bit, we shifted and we increased our web presence in online effort substantially. We had a master class that had about 200 health care provider positions in 20 countries. We rolled out the program that was very, very well received called, the road less traveled and it really helped sort of it helped your providers to understand how to diagnose ADC deficiency patients earlier as well as recognize various symptoms, particularly in areas where we're to target right now.
It's a cerebral palsy clinics on epilepsy clinics. In addition to that, we've actually had rolled out quite a few of the European AADC steering committee meetings. And we executed quite a number of those and had surprisingly really good reception, from key opinion leaders in these virtual patient classes, to help with, with, patient identification. Now with all that said, it's clear that COVID-nineteen has had a as it had an impact given that patient fewer patients are seeing physicians and tests are being done. But we're still doing quite a bit of activity virtually to keep up the educational noise level.
Okay. Thanks for that. And then maybe still a question on Translarna for the study that you're doing to measure dystrophin Can you give us an idea of what percent of patients have not yet received that biopsy? And does it make any meaningful difference if let's say a patient was scheduled to get a biopsy in March or April, but they don't end up getting it till May or June?
Yes, that's a good question. Yes, so we probably we've gotten I'd say we're waiting to get the last biopsy on approximately 40 pace of 40% of the patients somewhere around there. They were all scheduled to come in and this has sort of interrupted that. We don't think there's a real issue in terms of in terms of getting, in terms of the biopsy for treating them longer. We don't think that will be real problem, right?
So we should be able to, be able to once the sites are back and running and open. Be able to be able to get this accomplished. So we don't think that that's we think that will be a big deal.
Okay. And is this something that you've discussed with FPA? This go ahead?
I think in general, they know that sites are having issues And so, I don't know if we've actually talked to them directly, but they put out things already about what, because they know some sites that closed down, especially in metropolitan areas. So, and in this particular case, I mean, you might recall from to correct the case that they actually had a 9 month and a 18 month. So we don't look at this as a real issue.
Thank you.
Our next question comes from the line of Joel Beatty from Citi. Your line is now open.
Hi, thanks for the question. So in VISTA plan launches, should we anticipate that payers will only cover it as a monotherapy or could there also be situations that peers could be open to paying for it as chemotherapy, whether it's Zolgensma or SPINRAZA?
So maybe a couple of points to think about. You got to remember that Let's start with, trans law, I mean, a VISTA plan with SPINRAZA we don't understand actually why that would occur necessarily because they both sort of promote this alternative splicing into the SMN, transcript. And I think what I think, and we've shown clearly that you can actually make all of the S and M, S and M 2 RNA into the appropriate R and A to make the protein. So Riz, Riz, the plan does a very good job in terms of being able to make the appropriate R and and therefore, protein. In the cases of Genzema, our guess is that that's what we'll be competing with them in order they're getting, type in order to get type 1 patients and that my guess is that as patient, feel a need to get additional treatments, say, what's going on?
And we know from our trial that currently have that there are patients who, who from Zolgensma, who are now on, who are now on our open label trial, who are now getting a risdiplam as well. So we wouldn't anticipate that, they'll patients who probably would want to get, risk defined as well, especially in the light of, we don't know how durable or the variability of how patients do when they get this.
Makes sense. And then I guess one more question on reserve plan. Are there certain regions that you anticipate have a little bit more favorable dynamics for, more rapid launch than other regions. What type of factors would help the region have rapid launch of, for supply?
Well, we think I mean, I mean, I think that Roche will obviously, Roche is in charge of, in charge of commercialization, but there's certainly gonna to get moving rapidly in the U. S. And then, really throughout the world, will want to be done, but the U. S. Is the 1st, the 1st country that 4.
The other point, H. I wanted to make on the previous question also was that when I think about it, there were precedents and where, SPINRAZA was covered after Slocencia. So I think, certainly, that also goes along with the notion of, we anticipate that risk to plant would probably be used even if such and the normalized use.
Great. Thank you.
Thank you. Our next question comes from the line of Joseph Thome from Cowen and Company. Your line is now open.
Hi, there. Thank you for taking my questions. Just the first one on the GMP Manufacturing in early 21. Can you just articulate how maybe how this, maybe slight delay would impact any sort of initiation of gene therapy studies those are tied together. And then, my second question is, it looks like there is a study on clinicaltrials dotgov for Translarna in DMD patients aged 6 months for 2 years.
Just wondering what you're hoping to show here and is this related to a potential U. S. Submission or or the ex U. S. Cycle?
Thank you.
Sure. Yes. Thanks. So the so the GMP Manufacturing, in terms of the Hopewell site was really just because when we're thinking about COVID, we've already started making, toxicology levels of material in the Bridgewater side. So we based on being able to do that.
And we don't anticipate really it'll be slowing it down in any ways. So it allowed us to just before the opening of the plant till we get to 20 21 in the current environment we have so that it will there'll be no delays as a consequence of pushing it forward by 4 months So we didn't think it was a real issue and it's, it concerns a considerable amount of cash. So we thought we might as well do that. That we already created the tax of that just in our Bridgewater side. In terms of the 6 months to 2 years of age, as we're just to get the extension, to be able to bring we've done the work to get the that we did that.
And we've gotten that actually, approval in the U. S. That was, I mean, in Europe, sorry, to, expand the late so that people that people with, non transmutations can get it earlier. And so that's what we've, we were towards. So that's just to continue to get, earlier and earlier patients in.
Great. And then if I could just do one more on AADC. I see you're having some data presentations at ASGCT to outline changes on the Peabody scale and aims and from a functional endpoint. In terms of the regulatory review and maybe what physicians are interested in, are they each going to look at these different efficacy endpoints? Is it one that's most important, or they look at them kind of holistically?
Sure. So, Matt, you want to take that?
Yes, sure. Thank you, Joseph, for the question. I think what we when we think about the AADC data package, first, it's very important is the fact that we're able to show on pet scan that there is a significant increase in dopamine production in all the patients. So that's the first very important sign that we're addressing the critical underlying biochemical defects. That's very compelling evidence that we're really targeting the fundamental pathology of the disease.
Then we as you look at the data package and its whole, including the primary endpoint of head control, we're able to show that there's benefit in every patient treated and what we're now seeing with the long term data as shown in some of the abstracts you mentioned is that we're seeing durability of effect out past 5 years, even close to 10 years in some patients. That's a very strong compelling data. So what we believe is that physicians will appreciate the totality of the data that, 1, we're addressing the fundamental biochemical defect in all patients. And 2, across the board, we're seeing correction and evidence of correction of the key motor function defects in the disease. And that those effects, those favorable effects are sustained.
Thank you. Our next question comes from the line of Vincent Chen from Bernstein.
Congratulations on all the progress and thanks for taking the questions. A couple from me. The first one is just on revisiting the COVID-nineteen impact. I was wondering if you elaborate a little bit further on what impact you've seen so far as far as slowdown related COVID. It sounds like the franchises have been pretty resilient so far and have the largest in April yet.
This is a
major withdrawal guidance given potential COVID related impacts. So just want to get a better sense for whether you're indeed seeing any slowdown in demand for turns in market products over the course of the last couple of months, whether end of Q1 or in April to date. Or is pulling guidance just in case things were to get worse going forward? Yes. I'll pop out there.
Okay. So yes, that's a good question, because it goes to the pulling the guidance is more on or withdrawing it at the moment, really, I mean, uncertainty of where things are going in the long term, you just don't know. I would say in the short term, we feel pretty good where where in the first quarter and even after how they slug in terms of, maintaining the patients already on drug he was seeing new prescriptions. So it wasn't like we saw a slowdown. And maybe, Eric, maybe you want to put a little bit of, around this a bit.
Yes, sure, Steve. Yes, Vincent, thanks for the question. I mean, in terms of the top line, I mean, we've seen the trends right now, both in Europe and Plaza are very encouraging still. As I mentioned, we haven't had any kind of, increases in all patients asking for more product. We've been shipping mostly most of the patients on a month to month basis.
But and we continue to see those positive trends in Q2. The existing patient base and new patient growth is still there, although new patient diagnosis and new new prescriptions have decreased a little bit now as we've seen because patients are not seeing, physicians frequently, but we have protected the base, which is very good, and the trends are good there. We have gone back to make sure that everybody realizes we have an adequate amount of supply. And there have been some requests, in addition to the uptick there have been a few patients and we're seeing more and more requests for potentially 90 days supply for Emflaza, but it's still a small percentage. I think what we were concerned more about is the And I think it's due to highlighted, there's if the pandemic continues and there's a shift of unemployment and payer mix, or potentially disruption to some of our Translarna, shipments that might be in various markets.
Keep in mind, we have patients in close to 50 countries with partners as well as direct business. If some of that is disrupted because of the pandemic, at this point in time, we're just trying to be cautious. But it's there's no indication now that based on our strong results in the first quarter. And what we're seeing so far right now that, that we're losing patients or that, that growth would would go down. And I'll
give that back to Steve.
And maybe one quick follow-up on that point. If you think about the price for Emflaza in the U. S, how does the price pay for Emflaza different between patients on commercial insurance and patients on government insurance and take another way, if more patients were, if you were to see a meaningful shift in payer mix, how might that impact be? The net price paid on average?
Yes. And the simple answer is it's basically the statutory rebate from CMS, which is which is more which is higher, which is higher right now. Our current payer mix is about a sort of sixty-forty with commercial payer things the majority. If obviously that shifted, our gross to net would shift because there would be more patients moving on to Medicaid. So far, we haven't seen that.
And it seems to be that, DMD families in general have pretty good insurance and have covered. And in in addition to that, if patients do go from private payers to Medicaid programs, the number of the states actually have disability programs for children, and they can move very quickly. So, again, I think the only effect there, Vincent, would be the statutory rebates that we would have to pay to CMS if the payer mix shifted.
I see. And I'd like to ask another one just on Translarna and the ongoing study. I was just wondering if you could give us a sense for how the powering tech were done in terms of the number of patients in the ongoing U. S. Distribution study.
What data did you have sort of drop on in terms of estimating the likely effect size? Like are there is there data you collected from other patients treated with Translarna to see just how much of an increase you see in dystrophin whether from your studies or from clinical experience, I guess, in territories where Translarna is used?
Yes. Thanks for that. That's a good question. We did look at other studies as well and it was based on data that we saw from from Sarepta and some just making some assumptions based on that and what the assay is like that we got there. Matt, do you want to sort of anything else you want to answer that?
Yes, just that we believed with the 20 subjects in the trial that we would be able to achieve, we had 90% power, which we thought would be sufficient to show the Translarna effect. And of course, we expect that baseline to be there to be very, very low levels of disruption expression.
When you say now you've given power, what was the estimated effect size and the variability?
Correct. As Stuart said, basically looking at other trial data and running simulation
Okay, thanks. Thanks for taking all the questions.
Thank you. Our next question comes from from Barclays. Your line is now open.
Hi, this is Peter for Gena Wang. Thank you very much for taking the questions. I guess my first question, my question is on risdiplam. I guess, do you expect to segue is the plan to generate meaningful revenue this year or to anticipate, some patient initiation impacts for COVID And my second question on the related note is, could you remind us when the EAP was opened and how many patients have been sort of enrolled in U. S.
And OUS and whether pre COVID and post COVID, the EAT enrollment rate has sort of changed? Thank you.
Sure. So maybe the big picture on COVID and revenues. So I think on the big picture on COVID, I think in some ways, I think people will start thinking about how do I make sure I get to have drug supply to patients. So I think in some ways it might be helpful from a commercial launch perspective. I think we, in terms of revenues that would be royalty Emily, you want to talk a little bit about that?
Sure. I mean, we have the potential for up to 42,000,000 in milestones this year on our collaboration with Roche on the Risdiplam program. Obviously, we have tiered royalties up to the mid teens. And with the MAA having been submitted earlier this year and the PDUFA in the U. S.
Now in August 24th, I'd expect those to ramp up more significantly next year. I think as far as COVID's impact, the rate and ramp of those revenues, there's really some advantages and potentially being the only SMA therapy that can be delivered at home.
And then the patient numbers, well, I don't think Roche yet has discussed that, but I think what they did say on the on the call, previously what they have said is there's a lot of interest. And so they are, bringing patients in, already that are already on the EAP and they're continuing to do that, both in the U. S. As well as then to set it up also in Europe as well. So it'll be a global a global in Ascenty A And Key program.
It was certainly in the U. S. All over in in countries that allow you in Europe to have these EAP programs.
Our next question comes from the line of Raju Prasad from William Blair. Your line is now open.
Thanks for taking the questions. On Rizepam, when do you anticipate presenting additional Juulfish and Rainbow Fish data? And do you have any general, aside from what you've already mentioned, do you have any general commentary on how many patients are Roche is bringing in on the expansion of the Early Access Program or any details around what types of scenarios that they are expanding it to is just if patients are off SPINRAZA, don't want to go in, they apply or is there more stringent criteria? And then I have one on Translarna.
Sure. Yes. So that's an important point too is that that, they are now planning presentations for the, that probably be an update on the Cure SMA And then, yes, they have changed the EAP program to allow patients, to who are on, who are in therapies to get into the EAP program as well. And they've also added Type 2 as well. To the program.
So, yes, so patients who can't get, say, in physical injections or naive patients, that they certainly can. It's really based on the physician discretion based on what they think the need is. So COVID is obviously it access, so this is really a nice way in which they can get it at home and take it. So, that's also adding to the patient tool, are hopefully transitioning to Risdiplat. Very strong interest in this stuff.
Yes. Do you have any idea of how many in the U. S. Versus EU are getting out in the early access program? Kind of a general percentage wise?
No, yes, that hasn't been disclosed yet.
Okay. And then on one on Translarna, and then obviously you pulled guidance and you commented on it enough on this call, but just wondering, usually, you have a Q2, Q4 bolus, from Latin American orders, is the general pattern of revenue recognition going to be similar?
Yes. I think, I think maybe Eric could comment on that.
Yes, sure. We're with regards to Latin America for Translarna, as you can recall, we had approval from Aviso last year and we've been building a very nice base of patients. And we saw new patients coming in in the first quarter, not only diagnosing these patients, new prescriptions, but the base of patients that receive positive injunctions, for therapy continues to increase. So we've seen growth on all those parameters. With regards to that base, we have ongoing negotiations with the Minister of Health.
With ANVISA to require that we get those group purchase orders. We're working towards securing a difference order in the second quarter. We've shifted a lot of our virtual communications right now with the Minister of Health because of COVID-nineteen. To, to, virtual type meetings and we continue to have a very strong working relationship with the payers in Brazil So our goal is, as we've seen continuous number of increases in patients right now, our goal is to get and secure an order for Q2 barring any kind of exceptional acceleration of the pandemic or some kind of government diversion of resources. You got to keep in mind though that the rare disease bucket for for cost centers at Ministry of Health is relatively small in comparison to the overall health care budget.
So we think we can work through some of these things and negotiate and hopefully obtain, in order in Q2 and ensure that patient's continuity is there. Where again, we're very encouraged with the continued growth and it's going to continue to put pressure on the of health to, to secure those orders.
Thank you. At this time I'm showing no further questions. I would like to turn the call back over to Stu for closing remarks.
Okay. Well, look, I want to thank all of you for joining the call today. I want to remind you that at the end of March was our 22nd anniversary at PTC. And so as I look back upon the now our long history, I'm very proud of how the company has evolved is gratifying to see the progress that we've all made in continue to make in discovering developing and commercializing treatments for patient living with rare disorder And I think really a consequence of the hard work and dedication of the team, we're well positioned to be able to push forward and even thrive even under the uncertain environment. So again, thank you for joining the call.
I look forward. I to see you all
Ladies and gentlemen, this concludes today's conference call. Thank you for participating. You may now disconnect.