Research award for Tamoxifen clinical trial in the UK

The Myotubular Trust has recently joined forces with Great Ormond Street Hospital Children’s Charity and Sparks, the children’s medical research charity to co-fund a clinical trial, following a joint research grant call in 2019.

Studies funded by Myotubular Trust grants between 2014 and 2016, discovered that Tamoxifen, an anti-cancer drug, can significantly improve the symptoms associated with x-linked myotubular myopathy. Tamoxifen also has the benefit of having low side effects in both adults and children. It is not costly, is widely available and is already being taken safely by children for a range of other conditions.

The aim of the grant award is to prepare for and run a clinical trial to test how well Tamoxifen works in improving motor and respiratory function. The trial will be led by Dr Giovanni Baranello, and Professor Francesco Muntoni, at the University College London (UCL) Great Ormond Street Institute of Child Health. If the study is successful, it could provide the first widely available therapy for myotubular myopathy, either as a stand alone treatment for patients not eligible for gene therapy or other treatments, or as a valuable additional treatment.

Funding the preparation

New research grants take time to get up and running, particularly when they involve the complexity of setting up a clinical trial team. Therefor Myotubular Trust has already made a second, separate grant to the great Ormond Street Hospital research team. This grant funds a clinical trial co-ordinator who is already working on the regulatory and ethical paperwork and processes to ensure that the trial can begin as soon as possible.

Current grant has already funded the work of identifying the dose of Tamoxifen

Before a clinical trial can begin in humans, work needs to be done to decide what dose of a drug will be both the safest to take and the most likely to work. The Myotubular Trust 2018 – 2020 grant to Dr James Dowling at Sick Kids Canada has already funded this ‘dose finding’ work, ready for the trial to begin both in the UK and in the US and Canada too.

For further information about this grant, visit the Myotubular Trust website below.

Myotubular Trust logo

Great Ormond Street Hospital Charity and Sparks logo.

Audentes news 2019

May 2019

In May Audentes released new data at the American Society for Gene and Cell Therapy (ASGCT) to include more positive feedback about their AT132 gene therapy trial programme (ASPIRO), which is aimed at patients with x-linked myotubular myopathy (MTM1) aged up to five years.

Outcomes from nine patients in total were shared at the meeting. Chairman and Chief Executive Officer of Audentes, Matthew R Patterson said “We are excited to share today’s results and are working hard toward our goal of making AT132 available to patients living with XLMTM globally as rapidly as possible. We look forward to important next steps for the program, including selection of the optimal dose and further discussions with regulators in the U.S. and Europe regarding possible pathways to license applications.”

October 2019

In October Audentes presented new positive data from ASPIRO, the clinical trial evaluating AT132 in patients with X-Linked myotubular myopathy, at the 24th International Annual Congress of the World Muscle Society. The data was presented  by Dr James J Dowling from the Toronto Hospital for Sick Children. Dr Dowling said “The new ASPIRO data shared today builds upon the encouraging efficacy and safety profile seen to date with AT132. Treated patients across both dose cohorts show significant reductions in ventilator dependence and the progressive attainment of developmental motor milestones, suggesting that AT132 has the potential to deliver transformative benefit to patients and families living with XLMTM.”

Natalie Holles, President and Chief Operating Officer of Audentes said “We remain focused on our goal of rapidly progressing AT132 toward global regulatory approvals. Importantly, we have fully enrolled 14 patients into the ASPIRO dose escalation cohorts, and plan to complete enrolment of the ASPIRO pivotal expansion cohort imminently. ”

November 2019

In November the organisation reported its third quarter 2019 financial results and provided a corporate update. Matthew R Patterson, Chairman and Chief Executive Officer stated “AT132 continues to show a promising safety and efficacy profile in patients with XLMTM, with the first seven treated patients now ventilator independent.  Beyond AT132, we are excited about the significant momentum building across our entire pipeline of development candidates.”

Share your experience with x linked myotubular myopathy (xlmtm): a survey for the US X linked myotubular myopathy community

Also in November, Audentes Therapeutics  launched the xlmtm parent and caregiver community survey in the US.  Initially the survey is live for US based families, with UK and German versions coming in early 2020.

Families and caregivers economic and quality of life impact of xlmtm study.

The survey aims to gather important data related to the quality of life and economic impacts of xlmtm and to create a more thorough understanding of the quality of life and economic impact of xlmtm on families and caregivers. The results of this survey will be published and shared with the xlmtm community and may be shared with health policy makers and insurance companies to support patient access to future treatments. 

More detailed information about the study is available below.

Share your experience

Audentes logo.


Meet the researcher: Valentina Lionello

Valentina Lionello is a Postdoc researcher at Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), in Strasbourg. Specialising in molecular and cellular biology and in physiology, she has five years of experience in research. Valentina’s study ‘A new therapeutic strategy for centronuclear myopathy’
developed during her PhD, was published in the journal Science Translational medicine on 20 March 2019.

The study is groundbreaking research, which identified amphiphysin 2 (BIN1) as a potential therapeutic target in some congenital myopathies and subsequently found it was possible to specifically modulate the level of this molecule to reduce all signs of a severe form of myopathy (MTM1). The Information Point spoke with Valentina to learn about her work on the project.

Jocelyn Laporte team at IGBMC Strasbourg.

Valentina and Belinda Cowling (front centre), Jocelyn Laporte (back centre) and the team at IGBMC Strasbourg.

How did you come to work at IGBMC work and in the lab of Jocelyn Laporte?

Having finished the master degree, I decided to continue working in research and one of the options I had was to conduct a PhD. I read several PhD positions published online and I applied to several of them performing various interviews visiting the laboratories. One of the projects I applied was posted by Jocelyn Laporte and Belinda Cowling, it was about rare congenital diseases called centronuclear and myotubular myopathies and funded by Myotubular Trust. I admit that I have never heard about this disease before. I had skype and phone interviews and then I visited Laporte team and the IGBMC institute. At that time, I knew that the IGBMC was a great public research center and I read about the great Jocelyn Laporte and Belinda Cowling discoveries online. They explained me in detail the projects they had in mind with patience. Their common goals on identify a therapy for centronuclear and myotubular myopathy patients impressed me and convinced me that this would have become my project for the next four years.

What made you want to become a researcher?

I need to go back to my childhood. I have two elder sisters and we have 17 and 18 years of difference. I used to draw in my sisters’ rooms when I was a child and listen while they were studying. One of them studied Molecular Biology for her university studies. I learnt about DNA, nuclei stem cells passively since I was three years old and I always found this field fascinating. When I was 18, I wanted to be a medical doctor but I did not pass the entry test in Italy. So, I thought that if I could not cure patients directly I could help to develop therapies to improves patients life. Probably thanks to my free sister’ lessons I got when I was younger,  I succeeded at the University; I enjoyed the research internship and I am still enjoying to develop new hypothesis and testing them everyday.

Can you describe a work day for us?

It is difficult to describe one of my working day as they are always different. The only thing I do every day is biking. I love biking and I bike to the lab along a small river, winter and raining days included, with my slow speed for a total of 16 km each day. When I arrive in the lab I am full of energy. I usually do not sit in front of the PC but I go back to the last experiments I did the day before.

The first best moment of the day is when I check my agenda and I think, organize and imagine the experiments I want to perform. My day does not require only pipetting but a lot of flexibility. I organize around two to three experiments per day. It can happen that I never stop and some days I don’t have lunch as I am too busy and focused. Sometimes unplanned results or technical mistakes require to change my daily plan and to identify new strategies for my experiments.

The second-best moment of the day is the discovery of a result. It is complicated to explain the adrenaline I feel each time. For a few seconds I am the only one in the world that knows something totally new. When the results are positively impacting on the research I am conducting, you cannot imagine how happy and satisfied I am.

At the end of the day I write or answer to emails, I usually finish late in the lab and biking home I listen news on the radio. My day is normally finishing with a good plate of pasta speaking on the phone with my family and boyfriend who is working abroad.

How did you come to work on the new therapeutic strategy for centronuclear myopathy  project?

Jocelyn and Belinda wrote the hypothesis for a new strategy to cure myotubular myopathy before my arrival in the team. The hypothesis was based on previous results obtained in the lab by Christine Kretz and thanks to Belinda results published in 2014 and 2017 showing new therapeutic strategies for centronuclear and myotubular myopathies.

After the first promising results obtained generating a new animal model, I have put a lot of energy on the project from April 2015.

Can you tell us about the image that appears on the Science Translational Medicine website?

Centronuclear and myotubular myopathy patients have disorganised skeletal muscle fibers; the same characteristic is also present in the animal model resembling the disease. The cover picture of the Science Translational Medicine website shows that skeletal muscle fibers organization is rescued modulating BIN1 protein level in the myotubular myopathy mouse model.

Cover picture of Science Translational Medicine website.

The cover picture of Science Translational Medicine website shows that skeletal muscle fibers organization is rescued modulating BIN1 protein level in the myotubular myopathy mouse model.

Can you tell us a little about what goes on behind the scenes of a research lab to make a study like your possible?

Jocelyn Laporte has a dynamic international team. We are all collaborating and helping each other on the projects. Each person has their own project, however we all share the results and discuss the issues together to find the best solution or interpretation. Moreover, we have support and supervision to be focus on our goals. Finally, we are having a lot of fun in the lab. We work a lot but singing, eating and laughing in a great international atmosphere.

What characteristics do you think your research project required?

My project required passion, determination, organisation and critical thinking. I am glad to have worked hard on it and contributed to understand a new mechanism and therapy for a rare genetic disorder.

How was the project funded? Can you give us an idea of how much it costs to fund a days research?

The project was supported by different funders including the Myotubular Trust organisation and Sparks the Children’s Medical Research Charity who provided my salary and covered most specific running costs. Other funders were Inserm, Centre national de la recherche scientifique (CNRS), University of Strasbourg and Labex, who mainly supported salary of other participants, equipments and the usage of our internal platforms, and also kind of indirect costs as building electricity. The funding helped to generate a new animal model, to produce tools such as adeno-associated virus (AAV) and to access to technologies necessary for the project such as microscopy. My PhD salary was totally covered by Myotubular Trust funding for three years and then by ANR.

How does it feel to be carrying out research into centronuclear and myotubular myopathy at a time when so much progress is being made?

I feel glad that a lot of progress have been made in the last years for these rare diseases. However, I would feel even more satisfied when most of the patients will have the possibility to access to a therapy. I believe that we still have a lot to work on to improve the life of all centronuclear and myotubular myopathy patients.

Do you intend to continue working on centronuclear myopathy research projects and what will your next project involve?

In the next months in Jocelyn Laporte team, I will work on the development of new therapeutic strategy and I will investigate aspects of disease mechanism. I don’t have plans even if my time in Jocelyn Laporte team is almost at the end but I hope to find a job to continue helping rare disease patients.

Further information


College search

Sarah lives in the USA and later this year her son AJ will be starting college. Below Sarah writes about the search for a college and a few things she has learned along the way.


AJ’s senior yearbook quote: “Never let your circumstances define you.”

At age 13 months our son, AJ, was diagnosed with a rare muscle disease. The neurologist told us he had myotubular myopathy. After 12 years of searching for a genetic diagnosis, it turned out that AJ actually had a disease that is a ‘close cousin’ to MTM known as titin-related centronuclear myopathy (also known as titinopathy). The neurologist advised us to plan for his future. “Save for college” she told us. And here we are, the parents of an 18 year-old, standing at the precipice of campus life. In the sometimes heart breaking world of rare disease we appreciate that not all families reach this milestone. We are profoundly grateful to be here and wanted to share our journey with others who may travel this path. Below are a few things we learned along the way which we hope helps other families. Best wishes to you in your journey.

Here’s a bit of background, AJ has a titin-related centronuclear myopathy. He attends our local high school. He uses power mobility at school and has a 1:1 nurse. His school day includes a hybrid of ½ day of online classes and ½ day spent at the actual school. It was a good fit for his interests and academic skills to pursue attending college. I should note however that although college seemed like a good next step for AJ, many people can pursue other paths to adulthood including other forms of vocational preparation. Please note that our search took part in the United States and I realize that high school and college situations vary by country. You may also want to consider whether a high school graduation plan is the right choice. Keep in mind that in the US, students in some circumstances can stay in their local school system until age 21. This may allow for a less rigorous high school curriculum as needed to balance rest, manage health, etc. and can include vocational training and preparation through age 21.

Where to begin

There are thousands of colleges and universities in the US, so it is a bit overwhelming to think about how to narrow it down. For us, we started with a geographic limit to our state of residence. Many of the social support services are state-based so it seemed like a logical parameter to stick with our home state. We started with a complete list of colleges in our state. We then asked the guidance counselor for some recommendations and attended a few college fairs, too. College fairs are one way to gain information about a variety of schools in a short period of time. We then physically toured 10 different campuses.

Start early. We started our first campus tours in Sophomore year. This took off a lot of the time pressure that some people face. AJ was also not the kind of kid who could attend a full day of school, then drive two hours away and do a two hour campus tour. So, we needed extra time, advance planning and took advantage of school breaks to visit schools.

Round one: Campus visits (x 10)

I really think for people with physical disability, especially wheelchair users, campus visits are a must. Most colleges now have fantastic websites with loads of information and even virtual tours but please do not rely solely on a website. Private colleges and older colleges can really have problematic accessibility and we realized that even public institutions that are supposed to be accessible, are really not. Just as an example, AJ’s dad looked at his own alma mater and only 25% of the buildings on that campus are accessible. Some of the accessibility issues we saw included:

  • inaccessible buildings (both academic and residence hall buildings)
  • tTour guides that took the group down a set of stairs
  • rugged terrain like cobblestone sidewalks, broken up sidewalks and hills
  • we found electric ramps for stairwells buried behind a table and chairs
  • one campus was on a cliff overlooking a river and the tour guide mentioned that the wind off the river in the winter was “really special” – he also noted that some winters they had to tie a rope between the buildings for safe travel on campus due to the wind and ice. So, not too wheelchair friendly.

We went on one tour where 10 minutes in, AJ realized that he did not feel welcome on campus due to physical barriers and he was ready to leave. These issues and more are just some of the reasons why it’s really important to do an in-person, physical tour of campus.

Make sure to let admissions know about your accommodation needs before visiting campus. After a few campus visits we realized that group tours and open house days were not for us. It was just too hard to hear, see and keep up with a group in a wheelchair plus hearing aids. We started asking for either very small group tours or private tours. Most colleges will try to avoid this, because of the volume of prospective students, but I highly recommend you strongly request this.

Round two: meet with the Office of Special Services (x 6) and academic departments

After our 10 campus tours, we then narrowed our search down to re-visit six schools. On these follow up visits we set up two meetings, one with the office of special services (OSS) and one with the head of the academic department of AJ’s intended major. Each college will have a department whose job it is to create and support any accommodations needed due to a disability. Different campuses have different names for this department but you can find them on the website. Requesting these meetings was really informative. For example, for one of the colleges I left four messages and sent three emails requesting a meeting and no one from that office returned our call. That college was removed from consideration because with AJ’s high need for adaptations, we knew this lack of responsiveness ruled this school out of consideration.

The point of this second round of visits was to determine:

  • how responsive is the OSS department
  • what is the feel of the OSS department
  • do they have the resources to support our requested accommodations
  • are they able to meet his needs?

If you are thinking about a college plan – start a document brainstorming accommodation ideas now. We started our list in Sophomore year and added to it as the years went on. Each time we visited OSS we picked up new ideas and added them to our list. We separated our list into different categories like academic needs, housing needs and medical needs. We went over this detailed list as a prospective student at six schools.

Well, what we found out by visiting these different OSS department was fascinating. We definitely got a feel for the campus culture of how accepting each one is to folks with disabilities. One gal told us how great she was at, “Fighting for her students’ accommodations to be followed” and how much “education” the faculty needed with understanding the need to follow mandated accommodations. She also alluded to budget constraints that would limit AJ’s access to needed modifications. So, this school and a few others were excluded from our list during round two.

Visit OSS departments before you are accepted. It really was fascinating to see how finding the right fit for college was way more than academics and visiting the OSS departments was a big part of that. The window of time between acceptance and commitment is very short so we wanted to have these meetings set up well before that.

After this, AJ applied to and was accepted to five schools. After narrowing it down to two  top choices we went back again to meet again with OSS again and see the wheelchair accessible housing. AJ made his selection and we are all very excited.

Concurrent round: setting up supports

At the same time that we were searching for colleges, we were learning about
different government supports for people with disabilities. Some of these include:

For AJ, he needed to wait until turning 18 to access some services. Applying for
these services depends on many personal factors including assets/income, medical
needs and what state you live in. For us, applying for these programs was a critical
aspect of preparing for more independent living on a college campus due to the
need for personal care assistance/nursing services.

Last round: affiliating with the office of special services

After the admissions process, the last step includes affiliating with the college office
of special services. Accommodations and services are covered under different laws
in college versus high school. In order to receive services, a student must identify their
needs to the school and provide medical documentation to prove need. A student
would then work with the school to make an accommodation plan.

Affiliate with your college’s office of special services sooner rather than

Our family’s journey to campus life took place over many years with a lot of
advanced planning. Best wishes to you with your transition to adulthood path. We
are all excited for the adventures ahead.

Myotubular and Centronuclear Myopathy Patient Registry update

The Myotubular and Centronuclear Myopathy (MTM and CNM) Patient Registry is an international, patient-reported database created to capture clinical and genetic data from patients who have been diagnosed with these ultra-rare genetic conditions and on female carriers of x-linked myotubular myopathy. The registry was established in March 2013 by the Myotubular Trust in collaboration with TREAT-NMD (an international neuromuscular network of clinicians and specialist centres) and other key opinion leaders, and was transferred to the John Walton Muscular Dystrophy Research Centre at Newcastle University in 2015.  Below Lindsay Murphy provides a Patient Registry update.

Information in the registry is collected through a secure online portal, directly from the participants (or from a parent or guardian if the patient is under 18). We also welcome registration of deceased patients, if their family wishes to contribute their data. Online registration is available to all of these groups and can be done in English, German, Spanish, Polish, Italian or French. The main purpose of the registry is to aid the rapid identification of eligible patients for clinical studies when approached by researchers and pharmaceutical companies. The registry also disseminates disease-relevant information to participants; provides a source of information to academics, industry and healthcare professionals to support research and the development of standards of care; and seeks to provide support to the MTM and CNM community. To give a snapshot of some of the information held within the registry, a few current data items are presented below.

To date, a total of 249 participants are registered with the MTM and CNM Patient Registry. Participants have registered from across Africa, Europe, Asia, the Americas and Oceania, reflecting the registry’s truly global nature (see Figure 1).

Map showing number of consented registrations by country.

Figure 1: Number of consented registrations by country

The age range of registry participants is from 0 to 74 years, and of those registered, 71.1% are patients, 11.9% are deceased patients and 10.9% are female carriers of the XLMTM gene.

The registry captures both the patient-reported medical diagnosis and the genetic diagnosis. A doctor will review a patient’s symptoms and perform tests to reach a medical diagnosis. Among the muscular dystrophies, symptoms may be very similar, therefore, to be certain of the cause of illness, it is important to have a genetic test. This will identify if a change or mutation in a specific gene is present and will provide a genetic diagnosis of a patient’s condition. If a patient wishes to participate in clinical trials it is of great importance to obtain a genetic diagnosis as this if often a specific requirement of trial coordinators.

Information captured by the registry on medical diagnosis illustrates that most living registry participants have MTM (65.3%), with the remaining participants having CNM (28.6%) or either an unconfirmed or ‘other’ diagnosis (6.2%, see Figure 2).

Pie chart showing medical diagnoses of living registry patients.

Figure 2: Medical diagnoses of living registry patients

The genes associated with the conditions MTM and CNM in living patients are presented in Figure 3. Mutations within the X-linked MTM gene are most commonly associated with a medical diagnosis of MTM. In comparison, the genetic causes of CNM are attributed to a wider number of genes, most notably dynamin 2 (DNM2) and skeletal muscular ryanodine receptor (RYR1).

Chart showing Living registry patients by gene mutation, stratified by diagnosis.

Figure 3: Living registry patients by gene mutation, stratified by diagnosis

Recruitment to clinical trials and research studies is one of the main purposes of the registry, and has proven to be highly successful. Participants have been informed of, and recruited to, a number of such studies, including:

  • Natural History Study of MTM patients at the Institute of Myology
  • ‘INCEPTUS: A Clinical Assessment Study in X-Linked Myotubular Myopathy’, carried out by Audentes Therapeutics
  • Genetic Alliance Survey about preimplantation genetic diagnosis for CNM patients with a variant in the DNM2 gene
  • ‘Journeying: a research project exploring the experiences of power wheelchair users in the built environment and on public transport’.

The registry has also helped support the promotion of surveys and studies, including a long-term ventilation survey for patients and their carers and an academic research study investigating physical activity in patients with various neuromuscular conditions.

The MTM and CNM Patient Registry is a highly successful venture for participants, clinicians and academics alike, however, there is always room for improvement. With that in mind, we are hoping to add the ability for doctors to contribute clinical data from their consenting patients, which may help to address the patient language barrier and issues related to internet access. Also, clinician verification of patient-entered data will help to assure data quality.

Further information

For further information about the MTM and CNM Patient Registry, please visit the registry website.


Dynacure: clinical trial application approved and research grant funding

Clinical trial application approved

The UK regulatory authority – the Medicines and Healthcare products Regulatory Agency (MHRA) – has approved the Clinical Trial Application (CTA) for DYN101 – Dynacure’s antisense product in development for centronuclear myopathy. This antisense drug has been developed in collaboration with Ionis Pharmaceuticals who have an excellent track record in creating these drugs, and is built on the DNM2 work of Jocelyn Laporte and his team at IGBMC in Strasbourg.

The phase 1/2 clinical trial is expected to start in the second half of 2019, in approximately 18 patients greater than 16 years of age with XLMTM and DNM2 mutations.

Research grant funding

Dynacure recently announced they have been awarded €450,000 research grant funding from a French organisation, Bpifrance, to help them speed up current development plans for their lead project (an antisense compound/drug named DYN101). The funds will be used to:

  • see if it will help improve muscle strength in patients with centronuclear myopathy
  • support them to find out if they can potentially expand the application of DYN101 antisense therapy to help treat other human diseases
  • help them discover new measurements (known as biomarkers) which can prove the effectiveness of using this drug to treat patient symptoms.

Read the full press below.

Dynacure logo.


MTM and CNM Patient Registry

This article first appeared in the Information Point newsletter Our World in 2018, when Jo Bullivant, curator of the MTM-CNM Patient Registry wrote about the registry.

Have you registered in the Myotubular and Centronuclear Myopathy (MTM and CNM) Patient Registry yet? The MTM and CNM Patient Registry is an international registry open to MTM or CNM patients and female carriers of x-linked myotubular myopathy (XLMTM). It is funded by the Myotubular Trust and Muscular Dystrophy UK and managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University, as part of the TREAT-NMD Alliance.

There are many reasons why patient registries are so important in rare diseases, including:

  • they provide doctors with information about the conditions, to help improve standards of care
  • they support and encourage research by providing (anonymous) data about the conditions
  • being part of a registry means that researchers or pharmaceutical companies can ask the Registry Curator to let participants know if there is a trial or research study that they might be eligible for
  • pharmaceutical companies and other organisations are increasingly acknowledging the value of real-world, patient-reported data, as it can potentially reduce the need for placebo arms in clinical trials and help to develop patient-centred outcome measures.

Being part of a registry will also mean that researchers or pharmaceutical companies can ask the Registry Curator to let you know if there is a trial or research study coming up that you might be eligible for.

Further information

Learn more about the Myotubular and Centronuclear Myopathy Patient Registry

To learn more about the Patient Registry and to register online, visit the website or email Jo Bullivant, the Registry Curator with any questions.

Clinical trials

Information about clinical trials can also be found on Patient Registry website.

Real world data in clinical trials

If you would like to find out more about the use of real world data in clinical trials, take a look at the article from Muscular Dystrophy News below.

Audentes Therapeutics announces dosing of first patient in a clinical trial for the treatment of X-Linked myotubular myopathy

In autumn 2017, Audentes Therapeutics announced it had commenced dosing of patients in ASPIRO, a Phase 1/2 clinical trial of AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM). ASPIRO is a multicenter, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately twelve x-linked myotubular myopathy patients less than five years of age.

Suyash Prasad, M.D., Senior Vice President and Chief Medical Officer said “We are grateful to the many expert collaborators, patient advocacy organizations and parents who have supported Audentes and helped guide our efforts. Most of all we are thankful to the children and families affected by XLMTM for their participation in ASPIRO. We look forward to working together with our partners to advance AT132 as a potentially transformative therapy to treat this devastating disease.”

In addition to ASPIRO, the clinical development program for AT132 includes RECENSUS, a retrospective medical chart review, for which Audentes has previously announced data from an initial analysis of 112 male subjects. This analysis confirmed and expanded upon the understanding of the significant disease burden of XLMTM on patients, families and the healthcare system. Audentes is also conducting INCEPTUS, a prospective natural history run-in study. The primary objectives of INCEPTUS are to characterise the clinical condition of children with XLMTM, identify subjects for potential enrollment in ASPIRO, and serve as a longitundinal baseline and within-patient control for ASPIRO. Audentes plans to announce preliminary data from INCEPTUS in the third quarter of 2017.

Preliminary data

In November Audentes announced that AT132 had been well-tolerated by all patients with no significant treatment-related safety signals to date and the plan was to report preliminary clinical data from ASPIRO in early January 2018.

Matthew R. Patterson, President and Chief Executive Officer said “I am pleased with the excellent progress we have made to advance our pipeline toward key value inflection milestones, including the recent completion of dosing for the first cohort in ASPIRO, the Phase 1 / 2 clinical study of AT132 for the treatment of XLMTM. While we are only weeks into the study, we are encouraged by the progress to date and look forward to sharing preliminary safety and efficacy data from the first cohort of patients in early January 2018. This will be the first of many catalysts over the coming months as we execute on our ambitious goal of creating the world’s leading gene therapy company focused on developing a multi-product pipeline to treat serious, life-threatening rare diseases with high unmet medical need.”

Rare Pediatric Disease and fast track designations for AT132

Audentes also  announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease and Fast Track designations for AT132, the company’s gene therapy product candidate being developed to treat XLMTM. In addition to these two new designations, AT132 has also received Orphan Drug designation from both the FDA and European Medicines Agency.

Matthew R. Patterson stated “The incentives provided by the Rare Pediatric Disease and Fast Track designations are significant and include opportunities to work with FDA to expedite the development of AT132 and the potential to obtain a valuable Rare Pediatric Disease Priority Review Voucher upon approval. We are eager to leverage these benefits and to work closely with the FDA and XLMTM patient community as we pursue our goal of developing AT132 to treat this devastating rare disease.”

A Rare Pediatric Disease designation may be granted by the FDA to drugs and biologics intended to treat orphan diseases affecting fewer than 200,000 patients in the United States, primarily age 18 years or younger. The designation provides incentives to advance the development of rare disease drugs, including access to the FDA’s expedited review and approval programs.

In addition, under the FDA’s Rare Pediatric Disease Priority Review Voucher program, a sponsor that receives approval for a biologics license application for a rare pediatric disease may be eligible to receive a voucher for a priority review of a subsequent marketing application for a different product.

The priority review voucher may be used by the sponsor, sold or transferred. The Fast Track program was created by the FDA to facilitate the development and expedite the review of new drugs which show promise in treating a serious or life-threatening disease and address an unmet medical need. Drugs that receive this designation benefit from more frequent communications and meetings with FDA to review the drug’s development plan including the design of the proposed clinical trials, use of biomarkers and the extent of data needed for approval. Drugs with Fast Track Designation may qualify for priority review to expedite the FDA review process, if relevant criteria are met.