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Rare disease study tracks GM1 progression to pave way for future treatments

NCT ID NCT04041102

Knowledge-focused Sponsor: University of Pennsylvania Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 followed 31 children with infantile or juvenile GM1 gangliosidosis, a rare and severe genetic disorder, for up to 3 years. Researchers collected data from exams, blood tests, and developmental assessments to better understand how the disease progresses. The goal was to identify useful markers for future clinical trials, not to test a treatment.

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

31 people

The number who actually took part.

Started

Jun 2020

Finished

May 2024

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

Individuals with a diagnosis of infantile (Type 1) or juvenile (Type 2) GM1 gangliosidosis.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: 1. Documentation/ Confirmation of reduced beta-galactosidase enzyme activity in leukocytes 2. Confirmed diagnosis of infantile or juvenile GM1 gangliosidosis with documentation of GLB1 mutations 3. Parent/Caregiver capable of providing informed consent (if cognitively able, child to provide assent as well) 4. Infantile (Type 1) GM1 subjects: Documented symptom onset by 6 months of age with significant hypotonia on exam or history elicited from parent(s)/ caregiver(s) 5. Juvenile (Type 2) GM1 subjects: Documented symptom onset after 6 months of age OR documented symptom onset prior to 6 months of age without significant hypotonia on exam or elicited from parent(s)/ caregiver(s) Exclusion Criteria: 1. Enrollment in any other clinical study with an investigational product/ therapy (patients receiving miglustat off-label will be eligible) 2. Any clinically significant neurocognitive deficit not attributable to GM1 gangliosidosis or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results 3. Any condition that, in the opinion of the investigator, would put the subject at undue risk or make it unsafe for the subject to participate

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Conditions

The condition(s) this trial relates to.

GM1 gangliosidosis lysosomal storage disease

As listed by the trial registrant

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

GM1 gangliosidosis

Contacts and locations

Locations

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Gazi University

    Ankara, Turkey (Türkiye)

  • Hospital de Clínicas de Porto Alegre

    Porto Alegre, Brazil

  • Montreal Children's Hospital Research Institute - McGill University

    Montreal, Quebec, Canada

  • UCL Great Ormond Street Institute of Child Health

    London, United Kingdom

  • UCSF Benioff Children's Hospital Oakland

    Oakland, California, 94610, United States

More trials for these conditions

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