DMD research

DMD Research Roundup (March - June 2022)

As the leading funder of Duchenne muscular dystrophy research in the UK, Duchenne UK is part of a global effort to find effective treatments and improve quality of life for everyone living with DMD.  

Each study and trial, whether it results in positive findings or not, helps us to understand more about this disease and how to fight it. We aim to share the most important news in drug development with the DMD community through our quarterly roundup.  

If you are unfamiliar with any of the terminology used, please refer to our Research Glossary. 

Santhera Phamaceuticals and Reveragen Bio start application to the FDA for approval of steroid-alternative Vamorolone – March 2022 

Pharmaceutical companies Santhera and ReveraGen have provided an update to the DMD community about their investigational drug, Vamorolone. Vamorolone aims to provide similar benefits as steroids, without the severe side effects. 
The companies have submitted a new drug application (NDA) for Vamorolone for review by the U.S Food and Drug Administration (FDA). If this NDA is accepted by the FDA, they hope that it could be approved in the USA as early as the first quarter of 2023. 
Santhera also plans to submit Vamorolone for review by the European Medicines Agency (EMA) at the end of 2022, and will keep the community informed on their progress related to the drug’s regulation in the UK, EU and other global markets. 
Duchenne UK is proud to have helped fund the early development of Vamorolone and funded infrastructure for the UK trial through the DMD Hub. We are engaging Santhera to facilitate their interactions with UK regulatory agencies to ensure patients here can have timely access to the treatment.  
Read the full press release 

New trial launches to investigate impact of Ifetroban on preventing heart disease – May 2022 

Cumberland Pharmaceuticals are running a clinical trial in the US to investigate the repurposed drug Ifetroban as a treatment for cardiomyopathy (heart disease) in DMD patients.  

Ifetroban, originally developed for another heart condition, was shown to prevent fibrosis in the heart. In DMD patients, Ifetroban aims to prevent normal tissue in the heart being replaced with scar tissue during the repair process.  

Cumberland have now completed enrolment of boys with early-stage cardiomyopathy on the trial and are currently recruiting patients with late-stage cardiomyopathy.  

Heart failure, caused by cardiomyopathy, is one of the leading causes of death in DMD patients. It is hoped that this repurposed drug will be safe and effective in addressing cardiomyopathy in DMD patients. Results from the trial are expected next year.  

First participant dosed in PepGen’s clinical trial of exon skipping drug PGN-EDO51 – April 2022 

Biotech company PepGen announced that the first patient has been dosed in a Phase 1 clinical trial of their exon-skipping treatment, called PGN-EDO51. PGN-EDO51 is the company’s lead product for treating DMD, suitable for approximately 13% of patients (those who can benefit from exon 51 skipping)  

Duchenne UK was an early investor in PepGen, and is pleased to see this progress in getting new exon-skipping treatments into the clinic. 

Read PepGen’s press release  

Pfizer phase 3 gene therapy trial resumes following adverse event – April 2022

Pfizer have recently announced that they have resumed their phase 3 gene therapy trial for DMD, CIFFREO. Pfizer’s gene therapy (Fordadistrogene movaparvovec) is an investigational drug designed to deliver a shortened version of the dystrophin gene. 

The trial was placed on hold following the death of a DMD patient in their phase 1b gene therapy trial for non-ambulant patients. The patient had advance stage DMD with underlying heart problems. 

All trials were paused following the event but will now resume in 11 countries, including the UK. Patients will also be monitored closely in the hospital for seven days after receiving the gene therapy. 

Pfizer is currently working with the data monitoring committee and gene therapy experts to consider whether the trial should resume in DMD patients with more advanced disease. 

Read more 

Elamipretide granted orphan drug status in the US – May 2022 

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to elamipretide for treating DMD. Orphan drug status is given to treatments which show promise for rare diseases (affecting less than 200,000 people in the US)  

The drug aims to target the mitochondria, which are powerhouses in cells. Mitochondria function is impaired in people with DMD and this has been observed to occur early in the progression of the disease. 

Preclinical studies have shown that when this drug is used in combination with exon skipping therapies, a higher level of dystrophin in the muscles is observed.  

Stealth BioTherapeutics Inc is currently in consultation with the FDA regarding the development initiatives. 

Read more 

FibroGen Completes Enrolment for Second Phase 3 Trial of Pamrevlumab – June 2022 

FibroGen has completed patient enrolment for its Phase 3 LELANTOS-2 trial evaluating pamrevlumab in combination with corticosteroids as a potential treatment for children with DMD.  

Pamrevlumab is an antibody designed to target the connective tissue growth factor (CTGF), an inflammatory protein that causes muscle scarring. CTGF levels are abnormally high in DMD patients, leading to muscle fibrosis and possible organ impairment. 

Read the press release. 

Givinostat shows positive results in phase 3 clinical trial – June 2022 

Italfarmaco Group announced positive top line data and clinically meaningful differences in a placebo-controlled phase 3 clinical trial in DMD.  

The drug, Givinostat, aims to slow disease progression by activating muscle repair mechanisms to increase muscle fibre regeneration, reducing inflammation and fibrosis. 

The trial recruited more than 170 patients globally, including in the UK through Duchenne UK’s initiative: the DMD Hub. In the UK, the trials were delivered at four DMD Hub sites; (Newcastle, Alder Hey, Oswestry and Great Ormond Street Hospital. 

Read Italfarmaco’s press release. 

Published on 30 June 2022

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