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

U.S., May 8 -- ClinicalTrials.gov registry received information related to the study (NCT07574034) titled 'A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome' on May 01.

Brief 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 t...