Maple Syrup Urine Disease Type II Clinical Trials

Maple syrup urine disease (MSUD) Type II is an intermediate-severity organic acidemia resulting from partial deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKDC) complex, a mitochondrial enzyme complex composed of four subunits required for degradation of leucine, isoleucine, and valine. Type II (also called intermediate or intermittent MSUD) has residual enzyme activity of approximately 3-30% of normal, allowing some branched-chain amino acid (BCAA) metabolism but with progressive accumulation of toxic metabolites during catabolic stress (illness, infection, fasting). Unlike the neonatal presentation of classic (Type I) MSUD, Type II typically presents from months to years of age with progressive symptoms.

The most common symptoms of Maple Syrup Urine Disease Type II include Progressive developmental delay and neurologic deterioration, Hypotonia and hypertonia, Seizures and lethargy, Metabolic acidosis during decompensation, Elevated branched-chain amino acids in blood and urine, among others. Type II is rare; classic MSUD 1 in 185,000 to 200,000 worldwide. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Maple Syrup Urine Disease Type II 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. Strict branched-chain amino acid restriction through medical foods specifically formulated for MSUD (devoid of leucine, isoleucine, and valine) and careful dietary management is essential to prevent metabolic decompensation and neurologic deterioration. Thiamine (vitamin B1) supplementation may help approximately 10-30% of patients depending on the genetic defect; thiamine-responsive forms show improvement with high-dose supplementation.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Maple Syrup Urine Disease Type II. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Maple Syrup Urine Disease Type II is caused by variants in the BCKDHA, BCKDHB and DBT genes. Intermediate MSUD involves the same three genes as classic MSUD; a three-gene panel confirms the diagnosis.

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. Type II is rare; classic MSUD 1 in 185,000 to 200,000 worldwide. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Maple Syrup Urine Disease Type II looks at the BCKDHA, BCKDHB and DBT genes. Intermediate MSUD involves the same three genes as classic MSUD; a three-gene panel confirms the diagnosis.

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 Type II 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 Type II 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.