Registry for patients with lysosomal storage diseases
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This study is collecting information from patients with lysosomal storage diseases to see how these conditions progress and how treatments can improve care for them and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Ages | N/A to 64 Years |
| Sex | All |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Trial ID | NCT05619900 on ClinicalTrials.gov |
What this trial studies
This registry collects data from patients diagnosed with various lysosomal storage diseases (LSDs) to better understand the natural history of these conditions and the outcomes of fetal therapies. It aims to improve clinical management, medical decision-making, and quality of care for patients with LSDs. The study includes both prospective and retrospective data collection from patients aged 0-64 and pregnant patients with affected fetuses. The overall goal is to enhance prenatal management and patient outcomes.
Who should consider this trial
Good fit: Ideal candidates include patients aged 0-64 diagnosed with a lysosomal storage disease and pregnant patients whose fetus has a diagnosis of an LSD.
Not a fit: Patients who do not have a diagnosis of a lysosomal storage disease will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved management and outcomes for patients with lysosomal storage diseases.
How similar studies have performed: While this registry approach is common in observational studies, the specific focus on lysosomal storage diseases may provide novel insights into patient management.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
San Francisco, California
- University of California San Francisco — San Francisco, California, United States (Recruiting)
Study contacts
- Principal investigator: Tippi C MacKenzie, MD — University of California, San Francisco
- Study coordinator: Billie Lianoglou, MS
- Email: billie.lianoglou@ucsf.edu
- Phone: 415-476-2461
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.