NCT05619900

Registry of Patients Diagnosed With Lysosomal Storage Diseases

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 64 Years
• Healthy volunteers: Not accepted

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.

Detailed description

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: 1. Identify patient outcomes of therapies. 2. Improve clinical management of patients with LSDs. 3. Improve medical decision making. 4. Improve quality of care.

Conditions

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

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2022-05-31
• Primary completion: 2050-05-31
• Completion: 2050-05-31
• First posted: 2022-11-17
• Last updated: 2026-04-08

Locations

1 site across 1 country: United States