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New registry aims to unlock secrets of rare childhood diseases

NCT ID NCT05619900

Knowledge-focused Sponsor: University of California, San Francisco Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab results, and organ function over time. The goal is to improve prenatal care and outcomes for affected children.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 250 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2022

Expected to finish

May 2050

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.

Ages

Up to 64 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

Gaucher disease Gaucher disease type II glycogen storage disease due to acid maltase deficiency, infantile onset inborn errors of metabolism lysosomal storage disease mucopolysaccharidosis Mucopolysaccharidosis I Mucopolysaccharidosis IV mucopolysaccharidosis type 1 mucopolysaccharidosis type 2 mucopolysaccharidosis type 4A mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 Wolman disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Mucopolysaccharidosis I Mucopolysaccharidosis ii Mucopolysaccharidosis iv A Mucopolysaccharidosis vi Mucopolysaccharidosis vii Neuronopathic Gaucher disease Pompe disease infantile-onset Wolman disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • University of California San Francisco

    RECRUITING

    San Francisco, California, 94143, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.