Clinical Trial

A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome

Not Yet Recruiting
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Summary
There is currently no approved treatment for multisystem smooth muscle dysfunction syndrome (MSMDS). This single-patient study is the first to be conducted in a child with MSMDS in Canada and was designed to provide the child with access to sapropterin treatment. The molecule we will be using, sapropterin (Kuvan), is already approved and available for other indications. This disease is caused by a genetic variant in the ACTA2 gene. This variant prevents the small units of actin fibers, which are the molecular motors of the smooth muscle cell, from assembling correctly. The goal is to gather data so that the drug can be approved for this indication and thus treat the patient.
Trial Details
NCT Number NCT07574034
Lead Sponsor Gregor Andelfinger
Conditions Multisystemic Smooth Muscle Dysfunction Syndrome
Enrollment 1 participants
Start Date 2026-06-01
Primary Completion 2028-06-01 (estimated)
Study Completion 2030-06-01 (estimated)
Updated on ClinicalTrials.gov 2026-05-07