Registry of Patients Diagnosed With Lysosomal Storage Diseases

Part of paid clinical trials in San Francisco, California.

Sponsor
University of California, San Francisco
Study ID
NCT05619900
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - 64 Years
Healthy Volunteers
Not accepted

Interventions

  • There is no intervention — OTHER
    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.

Study Details

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.

Key Dates

Start date
May 31, 2022
Status verified
Apr 2026
Primary completion
May 31, 2050
Completion
May 31, 2050

Study Design

Enrollment
250 participants (estimated)

Arms

  • Arm: Mucopolysaccharidosis I
    Prenatally or postnatally diagnosed individuals
  • Arm: Mucopolysaccharidosis II
    Prenatally or postnatally diagnosed individuals
  • Arm: Mucopolysaccharidosis IV A
    Prenatally or postnatally diagnosed individuals
  • Arm: Mucopolysaccharidosis VI
    Prenatally or postnatally diagnosed individuals
  • Arm: Mucopolysaccharidosis VII
    Prenatally or postnatally diagnosed individuals
  • Arm: Infantile-Onset Pompe Disease
    Prenatally or postnatally diagnosed individuals
  • Arm: Neuronopathic Gaucher
    Prenatally or postnatally diagnosed individuals
  • Arm: Wolman Disease
    Prenatally or postnatally diagnosed individuals

Primary Outcome Measure

Number of patients with and types of prenatal features of Lysosomal Storage Diseases [ Time Frame: 15 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of California San FranciscoSan FranciscoCalifornia94143
Billie Lianoglou, MS
[email protected]
415-476-2461
Emma Canepa, MS, CCRP
[email protected]
415-476-7255
Tippi C MacKenzie, MD (PRINCIPAL_INVESTIGATOR)

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