Myopathy, distal, 5

MONDO:0014877

Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.

Also known as: ADSSL1 distal myopathy, ADSSL1-related distal myopathy, MPD5, adenylosuccinate synthetase-like 1-related distal myopathy, distal myopathy caused by mutation in ADSSL1, myopathy, distal, 5; MPD5, myopathy, distal, type 5

6 clinical trials for this condition and its sub-types, 1 tagged with Myopathy, distal, 5 itself.

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Where it sits in the disease tree

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↑ Distal myopathy (4)

Including sub-types (6) Tagged with Myopathy, distal, 5 (1)

Not yet finished but already full! 1

Experimental drug hopes to slow rare muscle disease in two patients

Disease control By invitation only

This early-stage trial tests a daily injection of ASA-001 in two adults with a rare genetic muscle disease (ADSS1 deficient myopathy). The main goals are to see if the drug is safe and if it can slow the disease. Participants will take the drug for 8 months and have clinic visits…

Phase 1 • Sponsor: Cure ADSSL1 • Aim: Disease control

Last updated Jun 27, 2026 12:04 UTC

Myopathy, distal, 5

Where it sits in the disease tree

Experimental drug hopes to slow rare muscle disease in two patients