Status:
COMPLETED
Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
Lead Sponsor:
University of Pennsylvania
Collaborating Sponsors:
Passage Bio, Inc.
Conditions:
GM1 Gangliosidosis
Eligibility:
All Genders
Brief Summary
Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. ...
Eligibility Criteria
Inclusion
- Documentation/ Confirmation of reduced beta-galactosidase enzyme activity in leukocytes
- Confirmed diagnosis of infantile or juvenile GM1 gangliosidosis with documentation of GLB1 mutations
- Parent/Caregiver capable of providing informed consent (if cognitively able, child to provide assent as well)
- 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)
- 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
- Enrollment in any other clinical study with an investigational product/ therapy (patients receiving miglustat off-label will be eligible)
- 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
- 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
Key Trial Info
Start Date :
June 12 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 1 2024
Estimated Enrollment :
31 Patients enrolled
Trial Details
Trial ID
NCT04041102
Start Date
June 12 2020
End Date
May 1 2024
Last Update
October 24 2025
Active Locations (6)
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1
UCSF Benioff Children's Hospital Oakland
Oakland, California, United States, 94610
2
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
3
Hospital de Clínicas de Porto Alegre
Porto Alegre, Brazil
4
Montreal Children's Hospital Research Institute - McGill University
Montreal, Quebec, Canada