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Registry for Lysosomal Storage Diseases

This is a registry for people diagnosed with certain lysosomal storage diseases (LSDs), including Mucopolysaccharidosis I, II, IV A, VI, and VII. It's an observational study, meaning there are no new treatments or interventions being tested. Instead, researchers will collect information from patients aged 0 to 64, or from pregnant patients whose unborn baby has an LSD diagnosis. The goal is to create a database to better understand these diseases, track how patients are doing over time, and improve care and treatment decisions. Key information collected will include details about prenatal features of LSDs, levels of certain substances in urine (glycosaminoglycans or GAGs), and antibody levels against enzymes, all measured over 15 years.

Study design
This is an observational study, not testing any specific intervention. It aims to enroll 250 participants to collect data over time.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 15 years to measure various outcomes.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05619900

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Recruiting
Not specifiedUp to 64Observational
University of California, San Francisco
~250 participants
Updated 2026-04-08 on ClinicalTrials.gov
What's tested:There is no intervention

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
Measured over 15 years
+3 more outcomes measured

Conditions

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

Explore related trials

Gaucher DiseaseGlycogen Storage Disease Type IIHunter SyndromeLysosomal Storage DiseaseMaroteaux-Lamy SyndromeMorquio SyndromeMucopolysaccharidosis Type ISly SyndromeWolman Disease

NCT05619900

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of California San Francisco

    San Francisco, Californiastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Tippi C MacKenzie, MD · PRINCIPAL_INVESTIGATOR · University of California, San Francisco

Who to contact

Billie Lianoglou, MS
[email protected]
415-476-2461
Email the study team

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Eligibility criteria

Inclusion

Patients aged 0-64 with a diagnosis of a lysosomal storage disease
Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease

What this trial measures

  • Number of patients with and types of prenatal features of Lysosomal Storage Diseases15 years

    Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.

  • Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.15 years

    Laboratory analysis of urine for GAG levels.

  • Number of participants that show measured levels of antibodies against the enzyme.15 years

    Laboratory analysis of blood to measure antibody levels.

  • Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.15 years

    echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.