Actively Recruiting
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Led by University of California, San Francisco · Updated on 2026-04-08
250
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are gathering information about patients diagnosed with Lysosomal Storage Diseases (LSDs) to better understand the natural course of these diseases and the results of fetal therapies. The goal is to improve how these conditions are managed before birth and enhance patient care overall. This registry collects both past and current data from individuals diagnosed with various types of LSDs. This study is observational and does not involve any treatments or interventions. It includes patients diagnosed with different lysosomal storage diseases, either before birth or after. The registry aims to collect detailed information on patient outcomes, clinical management, medical decisions, and care quality to help improve healthcare practices for these conditions. Participants will provide data over time, which may include prenatal features, urine tests measuring glycosaminoglycans (GAGs), antibody levels against enzymes, and assessments of heart, growth, movement, and brain functions. The study will track these outcomes up to 15 years, helping researchers understand how these diseases progress and how therapies impact patients. No treatments are given as part of the study, and participation may include sharing medical information and attending periodic evaluations.
CONDITIONS
Brief Title
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients aged 0-64 with a diagnosis of a lysosomal storage disease
- Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 15 years
Participants who have been diagnosed with a lysosomal storage disease are observed over time to collect data on patient outcomes, clinical management, medical decision making, and quality of care.
Ongoing visits depending on clinical management and assessment schedules
Trial Site Locations
Total: 1 location
1
University of California San Francisco
San Francisco, California, United States, 94143
Actively Recruiting
Research Team
B
Billie Lianoglou, MS
E
Emma Canepa, MS, CCRP
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
8
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