Registry of Patients Diagnosed With Lysosomal Storage Diseases

Recruiting

• Conditions: Neuronopathic Gaucher Disease; Wolman Disease; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Mucopolysaccharidosis I; Mucopolysaccharidosis IV A; Pompe Disease Infantile-Onset
• Interventions: Other: There is no intervention

• Registration Number: NCT05619900
• Lead Sponsor: University of California, San Francisco

Brief 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.

Study Timeline

• Study Start: 2022-05-31
• Study First Submitted: 2022-11-09
• Study First Submitted QC: 2022-11-09
• Study First Posted: 2022-11-17
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-22
• Last Update Posted: 2025-01-27
• Primary Completion: 2050-05-31
• Study Completion: 2050-05-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 250

Inclusion Criteria

• Patients aged 0-64 with a diagnosis of a lysosomal storage disease
• Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease

Exclusion Criteria

• There are no current exclusion criteria

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Wolman Disease	There is no intervention	Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis I	There is no intervention	Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis II	There is no intervention	Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis IV A	There is no intervention	Prenatally or postnatally diagnosed individuals
Infantile-Onset Pompe Disease	There is no intervention	Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis VI	There is no intervention	Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis VII	There is no intervention	Prenatally or postnatally diagnosed individuals
Neuronopathic Gaucher	There is no intervention	Prenatally or postnatally diagnosed individuals

Primary Outcome Measures

Name	Time	Method
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.	15 years	echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Number of patients with and types of prenatal features of Lysosomal Storage Diseases	15 years	Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Number of participants that show measured levels of antibodies against the enzyme.	15 years	Laboratory analysis of blood to measure antibody levels.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.	15 years	Laboratory analysis of urine for GAG levels.

Trial Locations

Locations (1)

University of California San Francisco; 🇺🇸 San Francisco, California, United States