ClinicalTrials.gov record NCT05619900

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Registry of Patients Diagnosed With Lysosomal Storage Diseases

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUp to 64 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational registry gathers past and future medical data on people diagnosed prenatally or after birth with lysosomal storage diseases. It aims to document disease features (including prenatal findings), therapy outcomes, lab markers, and functional measures over up to 15 years. Collected data will be used to inform clinical management, medical decision making, and quality of care.

What it is studying. The study is collecting clinical, imaging, and laboratory data to map the natural history of the listed lysosomal storage diseases and to record outcomes of fetal therapies. Key measurements include prenatal features, urine glycosaminoglycan (GAG) levels, antibody levels against enzymes, and cardiac, growth, mobility, and neurocognitive function.

What the researchers hope to learn. To describe the natural history of these lysosomal storage diseases; identify patient outcomes of therapies (including fetal therapies); and improve clinical management, medical decision making, and quality of care.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • There is no intervention

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery. The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:

  • Identify patient outcomes of therapies.
  • Improve clinical management of patients with LSDs.
  • Improve medical decision making.
  • Improve quality of care.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational registry collecting past and future medical information for up to 15 years. Participation typically involves allowing the study to record clinical data from your medical records and may include recording fetal imaging findings, echocardiograms and other imaging (skeletal survey), urine tests for glycosaminoglycans (GAGs), blood tests (for example antibody levels), and neurocognitive assessments such as the Bayley III. There is no study intervention; the study compiles data to track outcomes and care. Follow-up visits or data submissions may occur over time as the registry collects long-term information.

How the study is structured. A combined retrospective and prospective observational registry (cohort) that collects medical records and test results without providing any intervention. Participants' data may be followed and updated for up to 15 years.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Hunter syndrome

This trial is also listed on this site under Gaucher disease, Hurler syndrome and Pompe disease.

Clinical trials10 trials listed for Hunter syndromeEvery trial the registry lists for Hunter syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Hunter syndrome researchLatest monthly update: September 2026. Includes: Brain-targeted enzyme. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
May 31, 2022
Primary completion
May 31, 2050 (estimated)
Study completion
May 31, 2050 (estimated)
Target enrollment
250 participants (estimated)
Last updated on registry
Apr 8, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University of California, San Francisco

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
natural history
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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