Sapropterin for Rare Smooth Muscle Disorder
Part of Genetic & congenital clinical trials.
This is a single-patient study testing whether a medication called sapropterin can help a child with a rare genetic condition called multisystem smooth muscle dysfunction syndrome. The medication may improve blood vessel and organ function by increasing a natural substance in the body.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Your child has a confirmed genetic mutation (ACTA2 c.536G>A, p.Arg179His)—a specific change in the DNA that causes this condition
- Your child is between 1 month and 18 years old
- Your child has never taken sapropterin (Kuvan®, Biopten®) or similar tetrahydrobiopterin medications before
- Your child is not allergic to sapropterin or its ingredients
- Your child is not currently taking medications that interfere with nitric oxide in the body
- Your child does not have serious kidney, liver, or heart problems that would make the study unsafe
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This early-stage trial tests JR-446, a new treatment for MPS IIIB, a rare genetic disorder that affects the brain and body. The treatment is delivered directly into the fluid around the spinal cord and aims to slow or improve symptoms in young children.
This study tests a new medicine called sotatercept in Japanese children who have pulmonary arterial hypertension (PAH)—a condition where blood vessels in the lungs become narrow and stiff, making it harder for the heart to pump blood through them. The medicine may help improve how well their hearts and lungs work together.
This Phase 2 trial tests mitapivat in adults with rare inherited red-blood-cell membrane problems, including congenital dyserythropoietic anemia type II (CDA II). It looks at whether the medicine is safe and improves red-blood-cell function, aiming to help people with anemia and active red-blood-cell breakdown.
This trial tests a drug called ASA-001 (adenylosuccinic acid) for people with a rare genetic muscle disease caused by ADSS1 deficiency. The goal is to see if it is safe and helps muscle function.
This trial tests a new drug called sotatercept for people with Eisenmenger syndrome or a related heart defect that hasn't been repaired. It may help if current treatments aren't working well enough.
This trial tests a new gene therapy called Vesemnogene Lantuparvovec for people with spinal muscular atrophy (SMA). It is designed for patients in low- and middle-income countries who cannot access or did not respond to other treatments. The goal is to see if the therapy is safe and effective in real-world conditions.
Hear when a new Multisystemic Smooth Muscle Dysfunction Syndrome trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.