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A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome
Sponsor: Gregor Andelfinger
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.
Official title: A Single Patient Study (SPS) of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS).
Key Details
Gender
All
Age Range
1 Month - 18 Years
Study Type
INTERVENTIONAL
Enrollment
1
Start Date
2026-06-01
Completion Date
2030-06-01
Last Updated
2026-05-07
Healthy Volunteers
No
Interventions
Kuvan (Sapropterine)
Sapropterine is already approved in Canada for the treatment of phenylketonuria (PKU) and has shown promise as an agent against multisystem smooth muscle dysfunction syndrome (MSMS) in an animal model. No clinical trials are currently underway with sapropteride for MSMS.
Locations (1)
CHU Sainte-Justine
Montreal, Quebec, Canada