24th April 2015
Publication highlights experiences in the establishment and operation of the
TREAT-NMD Advisory Committee for Therapeutics (TACT)

This recently published article details the development and operation of TACT as part of the TREAT-NMD suite of tools and services - the aim of TACT being to provide independent and objective guidance on the preclinical and development pathway of potential therapies (whether novel or repurposed) for NMD.

The papers illustrates that during the 10 review meetings, where 29 programme applications in several rare neuromuscular diseases including Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Becker Muscular Dystrophy, Congenital Muscular Dystrophy, Inclusion Body Myositis and X-Linked Myotubular Myopathy were reviewed, a number of recurrent themes emerged. Specifically the authors found that applicants frequently require advice and education on issues concerned with preclinical standard operating procedures, interactions with regulatory agencies, formulation, repurposing, clinical trial design, manufacturing and ethics.

Representatives from more than 10 patient groups have actively been involved with TACT since 2009 helping with the selection of projects and providing part funding for costs. The process, including the application form, has in part been adopted by patient groups and assisted some patient organizations in determining priorities for funding.

It is suggested that the body of experience amassed by TACT can be extrapolated to other groups of rare diseases to improve the community’s chances of successfully bringing new rare disease drugs to registration and ultimately to market.

Download the open access publication.

Exon skipping workshop to be streamed live via Ustream
back to top    

A workshop organized by COST Action BM1207 and SCOPE-DMD on exon skipping will be streamed live online via Ustream on Wednesday 29 April from 9am (UK time).

The event entitled 'Antisense oligonucleotide-mediated exon skipping therapy development for Duchenne muscular dystrophy (DMD)' is hosted by the European Medicine Agency (EMA) and is intended to be a forum discussion between stakeholders on current challenges that face antisense oligonucleotide therapy development for DMD.

To view proceedings please go to www.ustream.tv/channel/european-medicines-agency and use the password EMA2015 when prompted.

First DMD Patient in Follistatin Trial
back to top    

Start up company Milo Biotechnology announced on 9 April that the first Duchenne Muscular Dystrophy (DMD) patient has been treated in a Follistatin gene therapy trial. The therapy is delivered by intramuscular injection and is a six patient clinical trial led by Dr. Jerry Mendell at Nationwide Children’s Hospital in Ohio, USA.

Milo Biotechnology is developing a muscle-strengthening Follistatin protein gene therapy for DMD, in collaboration with Nationwide Children’s Hospital. Its main investigational product is AAV1-FS344, which leads to the local expression of Follistatin, a potent TGFb ligand inhibitor. The gene therapy technology was developed and is exclusively licensed from Nationwide Children’s Hospital. AAV1-FS344 is an adeno-associated gene therapy. It received FDA Orphan Drug Designation (ODD) in November 2012.

For further information about this trial please visit Milo Biotechnology's website.

DELOS phase 3 clinical trial in DMD - results published
in The Lancet
back to top    

A research article outlining the result of a phase 3 clinical trial in patients with Duchenne muscular dystrophy (DMD) was published earlier this week in the scientific journal The Lancet. Gunnar M. Buyse, MD, PhD, Professor of Child Neurology at the University Hospitals Leuven (Belgium) is the Principal Investigator for Santhera’s clinical trial (called DELOS) and lead author of the publication.

The DELOS trial was a double blind, placebo controlled trial which enrolled 64 participants with Duchenne muscular dystrophy aged between 10 and 18 years. The aim of this phase 3 clinical trial was to test the effects of idebenone (trade name Raxone/Catena) in improving breathing strength and lung function in people with Duchenne muscular dystrophy.

The DELOS trial met its primary objective and the results showed that idebenone significantly reduced the loss of respiratory function in patients with Duchenne muscular dystrophy.

A previous phase 2 clinical trial (called the DELPHI trial) had shown that idebenone was safe and well tolerated and that the effect of idebenone on respiratory function was larger in patients not taking concomitant glucocorticoid steroids.

Idebenone has been granted orphan drug designation for Duchenne muscular dystrophy in Europe and the US and Fast Track designation by the US Food and Drug Administration (FDA).

Find the publication in the Lancet or via ScienceDirect

Update on the TREAT-NMD Alliance Bi-Annual
Translational Sciences Conference
back to top    

Planning is currently underway for the TREAT-NMD Alliance Bi-Annual Translational Sciences Conference and we anticipate that the dedicated conference website along with registration will be live in the near future.

The conference is scheduled to will take place in Washington DC on 4-8 December 2015.

Programme highlights include

- Challenges in resources allocation – patients, families, physicians and money
- Current challenges of preclinical research and study design
- Innovative trial designs and outcome measures
- Biochemical and imaging outcomes
- Post marketing and health economics in orphan disease
- Standards of care
- Registries and International trial readiness and access to emerging therapies

This conference will be a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about translational research.

To maximize the benefit of our stakeholders getting together a number of satellite meetings and workshops are also planned.

Further updates will be announced in upcoming newsletters, online and also via twitter @TREAT_NMD.

We look forward to seeing you in December!

TREAT-NMD Advisory Committee for Therapeutics - update
back to top    

TACT is pleased to announce that three applications were reviewed during the 11th TACT review meeting which took place in Dublin, Ireland from 28-29 March 2015. This meeting was kindly supported by CureDuchenne, Duchenne Children’s Trust, Duchenne Ireland, Joining Jack, Muscular Dystrophy UK and Parent Project Muscular Dystrophy.

The current Chair of TACT, Professor Dominic Wells, will conclude his term at the end of this review round but will remain as a pre-clinical expert on the extended committee of reviewers. Dr Kathryn Wagner will initiate a 3 year term as Chair following the completion of all March 2015 meeting reports, in time to start planning for the next meeting scheduled for the 5-6 December 2015 in Washington D.C., USA.

“It has been an honour to serve as Chair of TACT, a committee that has a very important role in providing expert advice for drug development in neuromuscular diseases. I hope that my successor enjoys her role as Chair as much as I have working with a unique group of highly motivated expert volunteers“, said Dominic.

The TACT Secretariat and Core Group would like to thank Dominic for his commitment to TACT, tireless leadership and efforts to firmly establish TACT as a key resource for the entire neuromuscular field.

Anyone interested in submitting an application for review at our December meeting should contact the Secretariat before the 31 July 2015.

Five hundred patients included in the UK FSHD patient registry
back to top    

The UK FSHD patient registry recently included its 500th patient. This is less than two years after its launch in May 2013.  This milestone has only been possible through funding from Muscular Dystrophy UK and the support of patients and clinicians across the country. The online registry allows the patient to provide detailed clinical information as well as information about pain, quality of life and scapular fixation. The genetic confirmation is provided through the same online portal by either a treating physician or diagnostic laboratory.

The primary aim of the registry is to facilitate and accelerate research into FSHD.  The registry can support research in the planning and design, in the recruitment and implementation and as a tool to carry out research itself. The registry is a source of information, from which questions can be generated to inform future research.

The registry collects the internationally agreed core data (see ENMC workshop report Tawil et al, Neuromusc Dis, 20 (2010) 471-475) making it compatible with other registries around the world. Current and upcoming registries for FSHD are listed on the TREAT-NMD website.

For more information about the UK FSHD Registry please contact Libby Wood.

PHENODM1: A new deep phenotyping project for
myotonic dystrophy receives funding in the UK
back to top    

Professor Hanns Lochmϋller (Newcastle, UK) together with Dr Chris Turner (London, UK) have received funding from the NIHR (National Institute for Health Research) in the United Kingdom to deep phenotype 400 patients with myotonic dystrophy type 1 in the UK. The projected entitled “PHENODM1- Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalized medicine and assist in the planning, design and recruitment of clinical trials” will run across the two centres for the next two years.

Pheno-DM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of myotonia.  DNA, RNA, serum and CSF samples will be taken from all patients so that additional genetic and molecular biomarker analysis can be carried out. A subset of patients will undergo detailed sleep studies along with skeletal muscle MRI of the lower limbs. This study will complement the work of other groups currently looking at myotonic dystrophy type 1 including the large European trial OPTIMISTIC, using the same outcomes and measures where possible.

The NIHR launched a specific programme for translational research collaborations in rare diseases and are funding around 60 similar projects under various themes. You can find out more about this scheme at www.rd.trc.nihr.ac.uk. Their aim is to translate the outcomes of research into the development of new, more effective therapies and real-life patient benefits.

For more information about the study please contact Libby Wood

GNEM-DMP second newsletter now available
back to top    

The international GNEM-DMP registry has released its second newsletter and is now available to download from the registry website.  The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry as well as containing updates from the study partner on anything else GNE related.

Some highlights of this issue:

Aceneuramic Acid (Sialic Acid) Extended Release (ER) Phase 3 Clinical Study

Ultragenyx Pharmaceutical Inc. is announcing the launch of a phase 3 aceneuramic acid ER clinical study, scheduled to begin mid 2015 for people with GNE myopathy (also known as HIBM). The study will gather more information about the safety and effectiveness of aceneuramic acid ER in a larger number of people affected by GNE myopathy. All patients in the study will be assigned to a treatment or placebo group in a double blinded fashion.

Registry Data

Over 150 people from 23 different countries have signed up to the registry component of the GNEM-DMP and provided valuable information about the condition by answering questionnaires.  We look specifically at participants feedback on the care and support and functional activities sections of the registry.

Patient Story

Colm Mohan who was diagnosed with GNE myopathy in 2012, talks about his journey so far with a muscle wasting condition, including his recent visit to Newcastle to take part in the natural history study component of GNEM-DMP.

Physiotherapy Advice

The physical therapist team from Newcastle University provides advice and exercise suggestions, specifically related to those who are diagnosed with GNE myopathy.

See all of our newsletters on the International GNEM-DMNP website

For more information on the GNEM-DMP registry, including how to participate, contact HIBM@treat-nmd.eu

MYO-MRI Short Term Scientific Missions – year two
call for applications
back to top    

The COST Action funded MYO-MRI project has launched its year two call for applications for Short Term Scientific Missions (STSMs). As in the previous year, MYO-MRI will again fund four STSMs.

STSMS are a fundamental part of MYO-MRI and give early stage researchers the opportunity to undertake research in another country for five to ninety days. There is a grant of up to €1500 available to cover travel and accommodation.

Read the reports from STSMs undertaken in year 1.

Find out more about how you can apply to undertake an STSM.

Further details on the MYO-MRI project itself can be found on the project website.

For additional questions please contact Olav Veldhuizen.

Consortium of LGMD Foundations Announce First Annual
LGMD Awareness Day - 30 September 2015
back to top    

The first annual Limb Girdle Muscular Dystrophy (LGMD) Awareness Day launches later this year thanks to the unified effort of a number of non-profit foundations from around the world that are collaborating to promote global awareness.

To find out more about what is happening in September please visit lgmd-info.org. The site also features spotlight interviews and LGMD resources along with information about patient organizations.

If you are interested in participating in the first ever LMGD Awareness Day there are a number of things you can do. These include becoming an "Ambassador" for LGMD Awareness Day or organizing an event to raise awareness and (if interested) solicit donations for your favorite LGMD charity.

To find out more about what others are doing please visit the Limb Girdle Awareness Day Facebook page

Save the date for Myology 2016 the 5th International
Congress of Myology
back to top    

The 5th International Congress of Myology will take place 14-18 March 2016. The best specialists from around the world will gather in Lyon, France to present and challenge their latest findings not only in fundamental research but also in clinical science and therapeutics.

Registration for the congress is scheduled to open in June 2015 - further details will become available on the Myology 2016 website in due course.

Genethon offers postdoctoral research positions
back to top    

Genethon is launching an International Postdoctoral Program to attract highly motivated scientists who wish to pursue their career in the research and development of therapies for rare diseases. The postdoctoral research positions are available for a period of three years and will be based within the Genopole at Evry, France’s leading biotechnology and biotherapy science park in the southern outskirts of Paris.

Applicants who have less than three years of post-doctoral experience are eligible. The ideal candidate should have a strong interest in basic and translational research in the field of genetic diseases, a solid background in cell and molecular biology, a good publication record and excellent references. Previous experience with viral vectors and/or animal models of disease is a plus.

For further details of the programme and how to apply can be found on the Genethon website. Applications need to be submitted by the end of May, as shortlisting will begin in June. Successful applicants will be expected to start in early 2016.

Submit an article
Past newsletters
24th April 2015
TREAT-NMD newsletter - 24th April 2015