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  • Sarepta shares positive update from LGMD2E gene therapy trial

24 March 2021

Sarepta Therapeutics has shared new data from its phase 1/2 trial testing SRP-9003, a gene therapy for limb girdle muscular dystrophy (LGMD) type 2E (also called LGMDR4).

SRP-9003 is an experimental AAV gene therapy that codes for the full-length beta-sarcoglycan protein- the protein that is missing in people with LGMD2E. The recent data shows that beta-sarcoglycan protein continues to be present in the muscle biopsies from participants two years after receiving the gene therapy treatment.

Participants in both Cohort 1 (low-dose cohort- two years after treatment) and Cohort 2 (high-dose cohort- one year after treatment) have shown improvements in functional tests, such as the North Star Assessment for Dysferlinopathies (NSAD) and timed tests.

For more information, read Sarepta’s press release.

  • First participant dosed in Pfizer’s Phase 3 gene therapy trial for DMD

8 January 2021

Pfizer has announced that the first participant has been dosed in the Phase 3 CIFFREO clinical trial. The CIFFREO study is testing the efficacy and safety of the potential gene therapy drug PF-06939926 for the treatment of DMD. This is the first Phase 3 DMD gene therapy programme to begin dosing eligible participants. The first participant received the dose in Barcelona, Spain in December 2020. The CIFFREO trial aims to enrol 99 ambulatory boys, aged 4-7 at trial sites in 15 countries and we expect more details will be added to the study website in due course.

Read Pfizer’s press release for more information.

Details on the CIFFREO study can be found here.

  • Sarepta releases clinical data from DMD exon 51-skipping clinical trial

11 December 2020

This week Sarepta Therapeutics shared the first clinical data from the MOMENTUM clinical trial, testing SRP-5051, a potential treatment for people Duchenne muscular dystrophy. SRP-5051 uses exon-skipping technology to skip exon 51 in the DMD gene. The drug incorporates a small peptide, designed to improve the delivery of the drug into the required tissues.

These results showed that people who had taken a monthly dose of SRP-5051 showed increased levels of exon-skipping and production of the dystrophin protein compared to the levels measured at the start of the trial. SRP-5051 was generally well-tolerated.

The MOMENTUM trial is a two-part, phase 2 clinical trial. These results come from the first part of the trial. The trial is still ongoing and aims to test the safety and efficacy of SRP-5051.

For more information, read Sarepta Therapeutics’ press release.

  • Genethon receives go ahead for DMD gene therapy trial in France

03 December 2020

Genethon has received authorisation from the French National Agency for Medicines and Health Products Safety to start the French arm of a multicentre international gene therapy clinical trial for the treatment of Duchenne muscular dystrophy.

This trial will assess the safety and efficacy of GNT 004, which uses an AAV- type viral vector to deliver microdystrophin, a shortened version of the dystrophin gene, to the cells of the body. The development of this particular microdystrophin was carried out in collaboration with Professor George Dickson from Royal Holloway University College London. MDUK supported Professor Dickson’s research on microdystrophins for over 20 years.

In addition to trial sites in France, clinical trial sites are also planned in the UK, USA and Israel in the future. The trial also includes a pre-inclusion study. This will follow the natural progression of the condition in boys with DMD and will help to inform the design of the trial.

Read Genethon’s announcement here

  • FDA accepts application for exon-skipping DMD drug

26 August 2020

The US Food and Drug Administration (FDA) has accepted an application from Sarepta Therapeutics for accelerated approval for Casimersen (SRP-4045), a potential treatment for Duchenne muscular dystrophy.

The drug, which would be marketed as AMONDYS 45 in the States, uses exon-skipping technology to skip exon 45 of the Duchenne gene. This is a technique that involves small pieces of DNA called ‘molecular patches’ which mask a portion of a gene where there is a mistake or mutation.

A phase three study is under way to evaluate the efficacy and safety of Casimersen. Sarepta Therapeutics has already submitted some data from this study to the FDA, showing a statistically significant increase in dystrophin production in patients compared to those who have not received treatment or have received a placebo. The study is ongoing, and the FDA has provided a regulatory action date of 25 February 2021.

For more information, read Sarepta Therapeutics’ press release.

  • Promising updates on PTC Therapeutics’ trials for SMA drug

17 June 2020

PTC Therapeutics has shared an update on two trials of Risdiplam, an experimental drug for the treatment of spinal muscular atrophy (SMA). The drug increases SMN protein levels, the protein absent in people with SMA. The drug works by targeting the SMN2 gene.

The SUNFISH trial investigated the effect of Risdiplam in children and adults with SMA Type 2 or 3. Recent data show Risdiplam improved motor function after 24 months of treatment compared to natural history data.

JEWELFISH studies people with SMA aged six months to 60 who have previously been treated with other SMA therapies. Results showed that Risdiplam led to rapid and sustained increases in SMN protein levels.

For more information, read PTC’s press release.

  • Acceleron discontinues drug development for CMT

10 March 2020

Today, Acceleron announced topline results from its Phase II ACE-083 trial for Charcot-Marie-Tooth Disease. Although the drug increased the size of the muscles it was injected into, this did not translate into a clinical benefit i.e. there was no improvement in muscle strength or function. Unfortunately, this means that Acceleron is discontinuing development of ACE-083 for CMT.

ACE-083 is a drug that inhibits a family of proteins that negatively regulate muscle growth (including myostatin).

For more information, read Acceleron’s press release.


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