Sapropterin for multisystem smooth muscle dysfunction syndrome
Part of Genetic & congenital clinical trials.
This study tests a drug called sapropterin (Kuvan) to see if it can help people with a rare genetic condition called multisystem smooth muscle dysfunction syndrome, which affects the muscles in blood vessels and other organs. The drug may help improve how these muscles work.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a specific genetic change (ACTA2 gene mutation) that causes multisystem smooth muscle dysfunction syndrome
- You must be between 1 month and 18 years old
- You must not have taken Kuvan, Biopten, or any tetrahydrobiopterin preparation before
- You must not have any allergies to Kuvan or similar drugs
- You must not be taking medications that affect nitric oxide (a substance that helps blood vessels relax)
- You must not have other serious health conditions like stroke, kidney failure, or liver failure
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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