Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

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

NCT ID NCT07574034

Disease control Sponsor: Gregor Andelfinger Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 1 person

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Jun 2026

An estimate. Start dates often move.

Expected to finish

Jun 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

1 month to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Patients with the following molecularly confirmed genotype: ACTA2 c.536G\>A, p.Arg179His * Aged 1 month to 18 years Exclusion Criteria: * Previous exposure to Kuvan®, Biopten®, or any preparation of tetrahydrobiopterin for greater * Known hypersensitivity to Kuvan® or its excipients * Known hypersensitivity to other approved or non-approved formulations of tetrahydrobiopterin * Current use of medications that are known to affect nitric oxide synthesis, metabolism or action * Current use of experimental/other investigational or unregistered drugs that may affect the study outcomes * Inability to comply with study procedures * Concurrent disease or condition that would interfere with study participation or increase the risk for adverse events, including stroke, renal or hepatic failure * Other significant disease that in the Investigator's opinion would exclude the subject from the trial * Any condition that, in the view of the Principal Investigator renders the subject at high risk for failure to comply with treatment or to complete the study

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Multisystemic smooth muscle dysfunction syndrome are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

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.

Multisystemic smooth muscle dysfunction syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • CHU Sainte-Justine

    Montreal, Quebec, H3T 1C5, Canada