Maple Syrup Urine Disease (MSUD) Clinical Trials

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acid (BCAA) metabolism. The condition results from deficiency in the branched-chain alpha-ketoacid dehydrogenase complex, an essential enzyme for catabolizing leucine, isoleucine, and valine. In the classical form, toxic accumulation of these amino acids and their metabolites begins within days of birth, causing severe metabolic acidosis, cerebral edema, seizures, and permanent neurological damage or death if untreated.

The most common symptoms of Maple Syrup Urine Disease include Characteristic sweet or maple syrup odor in urine and sweat, Poor feeding and lethargy in first week of life, Developmental delay and hypotonia, Seizures, Severe ketoacidosis in acute episodes, among others. Maple Syrup Urine Disease affects approximately 1 in 185,000 births in general population; about 1 in 380 in the Old Order Mennonite population. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Maple Syrup Urine Disease from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. On November 3, 2026, ClinicalTrials.gov listed no open trials testing a treatment for MSUD, only observational research such as a study of brain injury markers (NCT04602325). Gene therapy has corrected MSUD in mouse studies (Pontoizeau et al., Journal of Inherited Metabolic Disease, 2024), and in 2026 the Clinic for Special Children in Pennsylvania published a natural history group of 11 infants built to serve as the comparison for a future single-arm gene therapy trial (Brigatti et al., Cell Reports Medicine).

As of October 21, 2026, no current FDA drug label names Maple Syrup Urine Disease as a condition the drug treats.

Maple Syrup Urine Disease is caused by variants in the BCKDHA, BCKDHB and DBT genes. The three genes encode subunits of the branched-chain alpha-keto acid dehydrogenase complex; PPM1K variants cause a rare mild variant.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. The condition affects approximately 1 in 185,000 births in general population; about 1 in 380 in the Old Order Mennonite population. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Maple Syrup Urine Disease looks at the BCKDHA, BCKDHB and DBT genes. The three genes encode subunits of the branched-chain alpha-keto acid dehydrogenase complex; PPM1K variants cause a rare mild variant.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Maple Syrup Urine Disease clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Maple Syrup Urine Disease clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.