Mucopolysaccharidosis Type I (MPS I) Clinical Trials

Mucopolysaccharidosis Type I results from mutations in the IDUA gene encoding alpha-L-iduronidase, leading to inability to break down heparan sulfate and dermatan sulfate. These glycosaminoglycans accumulate in lysosomes throughout the body, causing progressive cellular dysfunction. The three clinical phenotypes reflect the degree of enzyme deficiency: severe Hurler form has minimal enzyme activity, Hurler-Scheie has intermediate activity, and Scheie has near-normal enzyme activity with limited tissue involvement.

The most common symptoms of Mucopolysaccharidosis Type I include Coarse facial features with progressive changes, Growth deficiency and short stature, Developmental delay and intellectual disability in severe forms, Hepatosplenomegaly causing abdominal distension, Joint stiffness and skeletal abnormalities, among others. Approximately 1 per 100,000 live births; Hurler form is the most common phenotype. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Mucopolysaccharidosis Type I 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. Research in Mucopolysaccharidosis Type I combines multiple therapeutic approaches designed to address different aspects of disease. Enzyme replacement therapies work to replace the deficient enzyme, while substrate reduction therapy and gene therapy approaches offer additional strategies.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Mucopolysaccharidosis Type I. 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.

Mucopolysaccharidosis Type I is caused by variants in the IDUA gene. Hurler, Hurler-Scheie and Scheie are one disorder with different residual IDUA activity.

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. Approximately 1 per 100,000 live births; Hurler form is the most common phenotype. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Mucopolysaccharidosis Type I looks at the IDUA gene. Hurler, Hurler-Scheie and Scheie are one disorder with different residual IDUA activity.

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 Mucopolysaccharidosis Type I 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 Mucopolysaccharidosis Type I 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.