Registered charity
number 1146355

Current Research

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne Muscular Dystrophy

This study aims to follow the progress of 20 adolescents with Duchenne muscular dystrophy and delayed puberty as they are treated with testosterone to induce puberty. The patients included will be both ambulant and non-ambulant. They will all be treated with the standard stepwise regimen of testosterone injections every 4 weeks and data will be collected to help us determine the effectiveness and tolerability of the current treatment regimen. We will use the data to explore the effect of testosterone on pubertal development, growth, muscle strength and function, bone mineral density and body composition and characterise any side effects. We are excited about this study and hope to see that testosterone improves growth, bone strength and self-esteem so that it can be recommended as a standard of care for all boys with Duchenne muscular dystrophy with delayed puberty.

 

Duchenne Now members are delighted to be funding this two year testosterone study with Prof. Volker Straub and the Newcastle University John Walton Muscular Dystrophy Research Centre to the sum of over £211,000.00.
Duchenne Now is especially excited to fund a study that includes some of those living with Duchenne who are also non-ambulant, for us this increases the opportunities and involvement for more of our friends, supporters and members.
I would like to say a huge thank you to the team at Newcastle for putting this together but above all the many friends of Duchenne Now who make funding such projects possible. We will continue to search the globe for research and trials that fit our 5 year time frame and could be of benefit to all our community.

Paul Fitzpatrick [Trustee]

“Newcastle University and our team are delighted to be working in partnership with Duchenne Now, they have been very supportive throughout. We look forward to moving forward with this study over the next couple of years “

Prof. Volker Straub 

 

HT-100: A Powerful Anti-Inflammatory and Anti-Fibrotic

HT-100 is an orally available small molecule drug candidate being developed to reduce fibrosis and inflammation and to promote healthy muscle fiber regeneration in DMD patients. The application of HT-100 to DMD and other fibrotic diseases is based on pioneering work by Dr. Mark Pines at the Volcani Institute in Israel. We have been granted orphan designation for DMD in both the U.S. and EU. A phase 1b/2a clinical program is currently underway at five hospitals across the U.S. For more information on the trial, please visit www.clinicaltrials.gov or email us attrialinfo@akashirx.com. To view links to relevant publications please visit this page: Relevant Publications

Jerry Mendel  

Phase I/IIa Follistatin Gene Therapy Trial for Duchenne Muscular Dystrophy

The research team, which is led by Jerry Mendell at Nationwide Children’s Hospital, had already evaluated the safety and efficacy of follistatin gene therapy in a previous clinical trial with patients suffering from Becker muscular dystrophy, results of which were released last October.

The follistatin gene therapy, which was created by Mendell in collaboration with Brian Kaspar at the Hospital, is based on adeno-associated virus delivery of follistatin 344 and is expected to improve muscle strength, as well as prevent wasting and fibrosis of the muscles. Since the mechanism of action of the therapy is not specific to any mutation, the researchers believe that the novel treatment may be used on other types of muscular dystrophy.

UK Research programme

Action Duchenne, Alex’s Wish, Duchenne Now and Harrison’s Fund are delighted to announce that they are co-funding a new research project.  Called Repurposed Cancer Therapeutics as Treatments for DMD, the project will be led by Professor Steve Winder in the Department of Biomedical Science at the University of Sheffield.  With a total cost of £120, 935, this project hits the strategic aims of each of the funding charities by showing the potential to treat all Duchenne patients and the possibility of a fast track to the clinic.

 The Project

 

The project will investigate the use of four drugs that are currently used to treat cancer as potential treatments for Duchenne, using mouse models. The project aims to assess:

 

  1. The long-term efficacy of three tyrosine kinase inhibitors in reducing the dystrophic patho-physiology in mdx mice.
  2. The long-term efficacy of a proteasome inhibitor in reducing the dystrophic patho-physiology in mdx mice.
  3. The possible synergistic effect of tyrosine inhibitors combined with proteasome inhibitors in further reducing the dystrophic patho-physiology in mdx mice.

 

What does this mean?

 

In people living with Duchenne Muscular Dystrophy, a faulty signal in the cell acts as a switch which leads to disruption of the muscle cell surface.  This ‘faulty switch’ is part of the cause of Duchenne.  If this ‘faulty switch’ could be turned off it could stop or reduce the muscle damage associated with DMD. Some cancers are caused by the same kind of faulty switch, and therefore the same drugs that are used to treat these cancers may also have therapeutic benefit in Duchenne.

 

The team behind this project have previously experimented with these drugs in zebrafish models that have Duchenne, where they worked as expected.  They have also used two of the compounds on mdx mice, with encouraging results.  The next step is to use all four compounds individually and in combination in mouse models, over a longer period of time.  If successful this project will be a crucial step in gaining approval for a clinical trial of these treatments in human subjects.  Because the drugs used in this project are already approved for cancer patients they could potentially be fast tracked to the clinic for Duchenne patients if this research project is successful.

 

We will keep the Duchenne community updated with the progress of this novel and exciting project.

DR. Julie Saba

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Micro RNA proofing [biomarker]

Dr. Julie Saba of Children’s Hospital Oakland Research Institute (CHORI) has developed a micro RNA (miRNA) screening procedure that will illustrate differences between a normal age-matched boy and a DMD boy; and provide the ability to assess the effectiveness of promising compounds available to trial.

Lou Kunkel

Anti-inflammatory - dystrophin independent compounds

Using the dystrophin-deficient zebrafish, they have screened a total of 2,640 compounds with known modes of action from three drug libraries to identify modulators of the disease progression. Six compounds were found to rescue the abnormal muscle phenotype. The discovery of a small molecule and a specific therapeutic pathway that might mitigate DMD disease progression.
This research is ongoing.

Eric Hoffman
VBP15 steroid replacement

Absence of dystrophin makes skeletal muscle more susceptible to injury, resulting in breaches of the plasma membrane and chronic inflammation in Duchenne muscular dystrophy (DMD). Current management by glucocorticoids has unclear molecular benefits and harsh side effects. It is uncertain whether therapies that avoid hormonal stunting of growth and development, and/or immunosuppression, would be more or less beneficial. Here, we discover an oral drug with mechanisms that provide efficacy through anti-inflammatory signaling and membrane-stabilizing pathways, independent of hormonal or immunosuppressive effects. 

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