Sapropterin for Visceral Myopathy

No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

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.

Are You a Good Fit for This Trial?

Inclusion Criteria

I have the ACTA2 gene change called c.536G>A, p.Arg179His.
I am between 1 month and 18 years old.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participant receives KUVAN® (sapropterin dihydrochloride) 100 mg Powder Packets once daily

12 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • Sapropterin

How Is the Trial Designed?

1

Treatment groups

Experimental Treatment

Group I: Open label InterventionExperimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Gregor Andelfinger

Lead Sponsor