An observational study in Mucopolysaccharidosis I, Mucopolysaccharidosis II and Mucopolysaccharidosis IV A, sponsored by University of California, San Francisco. Recruiting at 1 site in United States. Open to participants aged Up to 64 Years. Per ClinicalTrials.gov, last updated 2026-04-08.
Sponsored by University of California, San Francisco · Observational
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery.
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:
74 studies on the registry are indexed under Mucopolysaccharidosis I; 7 are open to participants now.
This study's planned enrollment of 250 is above the median of 41 across 21 observational studies indexed under Mucopolysaccharidosis I.
Browse Mucopolysaccharidosis I studies →University of California, San Francisco is the lead sponsor of 2,169 studies on the registry; 372 are open to participants now.
Of its 267 completed or terminated interventional studies of FDA-regulated products, 202 (76%) have results posted.
Counted across the registry records on this site, refreshed daily.
Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
Prenatally or postnatally diagnosed individuals
Other: There is no intervention
This is an observational study. There is no intervention. The purpose of the project is to create a database of patients diagnosed either prenatally or after birth with a lysosomal storage disease. The database will be utilized to assess patient outcomes, build on existing clinical management, improve medical decision making, and improve quality of care.
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Time frame: 15 years
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
Time frame: 15 years
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
Time frame: 15 years
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Time frame: 15 years
Plan to share: No
No publications or documents are linked to this record.
Started May 2022 (actual). Primary completion is estimated for May 2050, 336 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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