Registry for patients with lysosomal storage diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Registry for patients with Lysosomal Acid Lipase Deficiency

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.