First-Ever trial of sapropterin for rare smooth muscle syndrome begins

NCT ID NCT07574034

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tests the drug sapropterin (Kuvan) in a single child with multisystem smooth muscle dysfunction syndrome (MSMDS), a rare genetic disorder with no approved treatment. The drug, already approved for another condition, aims to improve growth, blood pressure, and prevent brain complications. Because it involves only one participant, results will be very limited.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

sapropterin (Kuvan)

What this could lead to

If it works, this could provide a treatment option for children with MSMDS and support approval for this rare disease.

What could go wrong

This is a single-patient study with no control group, so results may not apply to others. The drug is untested for this condition in humans, and risks are unknown.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

multisystemic smooth muscle dysfunction syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • CHU Sainte-Justine

    Montreal, Quebec, H3T 1C5, Canada