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Registry of Patients Diagnosed With Lysosomal Storage Diseases

NCT05619900 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2026-04-08

No results posted yet for this study

Summary

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.

Conditions

  • Mucopolysaccharidosis I
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis IV A
  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis VII
  • Pompe Disease Infantile-Onset
  • Neuronopathic Gaucher Disease
  • Wolman Disease

Interventions

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.

Sponsors & Collaborators

Principal Investigators

  • Tippi C MacKenzie, MD · University of California, San Francisco

Eligibility

Max Age
64 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-05-31
Primary Completion
2050-05-31
Completion
2050-05-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05619900 on ClinicalTrials.gov