Observing the natural progression of GM1 gangliosidosis in infants and juveniles

Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

This study is tracking the progression of GM1 gangliosidosis in infants and children over three years to help understand the disease better and improve future treatments.

Quick facts

• Study type: Observational
• Enrollment: 40 (estimated)
• Sex: All
• Sponsor: University of Pennsylvania (Academic / other)
• Locations: 6 sites (Oakland, California and 5 other locations)
• Trial ID: NCT04041102 on ClinicalTrials.gov

What this trial studies

This observational study aims to create a natural history dataset for GM1 gangliosidosis by following up to 40 patients diagnosed with either infantile or juvenile forms of the disease. Over a period of up to three years, participants will undergo clinical, imaging, and laboratory assessments every six months to track disease progression and identify potential biomarkers. The collected data will help inform future clinical trials by establishing meaningful outcome measures and efficacy endpoints for GM1 gangliosidosis treatments.

Who should consider this trial

Good fit: Ideal candidates include infants and juveniles diagnosed with GM1 gangliosidosis who meet specific enzyme activity and symptom onset criteria.

Not a fit: Patients with clinically significant neurocognitive deficits not related to GM1 gangliosidosis may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide critical insights into GM1 gangliosidosis that may lead to improved treatment strategies and outcomes for affected patients.

How similar studies have performed: While there is limited data on similar natural history studies for GM1 gangliosidosis, the approach of collecting comprehensive disease progression data has shown promise in other rare diseases.

Eligibility criteria

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

Where this trial is running

Oakland, California and 5 other locations

• UCSF Benioff Children's Hospital Oakland — Oakland, California, United States (Recruiting)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
• Hospital de Clínicas de Porto Alegre — Porto Alegre, Brazil (Recruiting)
• Montreal Children's Hospital Research Institute - McGill University — Montreal, Quebec, Canada (Recruiting)
• Gazi University — Ankara, Turkey (Recruiting)
• UCL Great Ormond Street Institute of Child Health — London, United Kingdom (Active_not_recruiting)

Study contacts

• Principal investigator: Can Ficicioglu, MD, PhD — Children's Hospital of Philadelphia
• Study coordinator: Fabian Chen, MD PhD

Conditions GM1 Gangliosidosis; GM1; GM1 gangliosidosis; GM1 Type 1; GM1 Type 2; GM1 gangliosidosis Type 1; GM1 gangliosidosis Type 2; GM1 natural history study