MedTrace Logo

A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome

NCT07574034 · Status: NOT_YET_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 1

Last updated 2026-05-07

No results posted yet for this study

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.

Conditions

  • Multisystemic Smooth Muscle Dysfunction Syndrome

Interventions

DRUG

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.

Sponsors & Collaborators

  • Gregor Andelfinger

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Month
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-06-01
Primary Completion
2028-06-01
Completion
2030-06-01

Countries

  • Canada

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07574034 on ClinicalTrials.gov