Experimental Treatment for Facioscapulohumeral Muscular Dystrophy has Disappointing Results but May Still Benefit Charcot-Marie-Tooth Disease

The Bad News

Unfortunately, it has recently been announced that an experimental treatment for facioscapulohumeral muscular dystrophy (FSHD) will not be continuing on in clinical trials.

This is because the Phase 2 investigation did not show achievement of secondary endpoints.

The investigational treatment is called ACE-083 and it was developed by Acceleron Pharma.

About The Trial  

The Phase 2 trial was composed of two parts. The first was a dose-escalation study where the drug was administered to either the biceps brachii (BB) or the tibialis anterior (TA). It’s goal was to investigate both the safety of the drug and whether or not the muscles increased in volume as a response to the therapy. The patients in this part of the trial were treated for a 3 month period.

The second part of the trial was a placebo-controlled investigation. It was randomized and double-blind. 56 patients were included in this study and all were treated for 6 months. Their strength, muscle volume, muscle function, fat fraction, and quality of life were monitored. Following the initial treatment period, there was an open-label treatment period for another 6 months.

In terms of safety, the drug was found to be well-tolerated with only mild and moderate AE’s. However, in terms of clinical endpoints, the drug did not fair like researchers hoped. There was a significant increase in the average muscle volume for patients who received the treatment. However, this increase did not translate into improved functional tests. Without this functional benefit, ACE-083 would have no real benefit for patients.

As a result, ACE-083 will no longer be developed for FSHD.

The Good News

However, it’s not all bad news. This therapy is still in trials for another rare disease called Charcot-Marie-Tooth Disease. The results from the Phase 2 trial for this condition should be available in the first quarter of 2020. Researchers are still optimistic about the effect ACE-083 could have for patients with this disease, which has a different pathophysiology than FSHD.

You can read more about this trial and the investigational therapy here.


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