Registry of Patients Diagnosed With Lysosomal Storage Diseases
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Maximum Age: 64
Healthy Volunteers: f
View:
• Patients aged 0-64 with a diagnosis of a lysosomal storage disease
• Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
Locations
United States
California
University of California San Francisco
RECRUITING
San Francisco
Contact Information
Primary
Billie Lianoglou, MS
billie.lianoglou@ucsf.edu
415-476-2461
Backup
Emma Canepa, MS, CCRP
Emma.Canepa@ucsf.edu
415-476-7255
Time Frame
Start Date: 2022-05-31
Estimated Completion Date: 2050-05-31
Participants
Target number of participants: 250
Treatments
Mucopolysaccharidosis I
Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis II
Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis IV A
Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis VI
Prenatally or postnatally diagnosed individuals
Mucopolysaccharidosis VII
Prenatally or postnatally diagnosed individuals
Infantile-Onset Pompe Disease
Prenatally or postnatally diagnosed individuals
Neuronopathic Gaucher
Prenatally or postnatally diagnosed individuals
Wolman Disease
Prenatally or postnatally diagnosed individuals
Related Therapeutic Areas
Sponsors
Leads: University of California, San Francisco