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

Status: Recruiting
Location: See all (6) locations...
Study Type: Observational
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. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of GM1 disease progression and clinical outcome. Having a GM1 natural history data set can inform potential efficacy endpoints and biomarkers for future clinical trials. This natural history study will follow up to 40 subjects diagnosed with GM1 gangliosidosis (up to 20 infantile (Type 1) and 20 late infantile/juvenile (Type 2)) for up to 3 years. Visits will be conducted every 6 months, during which several procedures will be performed and the data recorded in order to learn about the natural course of the disease, including changes in clinical and neurological assessments and electrophysiologic, imaging and biofluid biomarkers. Study procedures include: physical & neurological exam, blood & urine sample collection, questionnaires & assessments of development, seizure diary, ECHO, ECG, x-ray and ultrasound (if MRI not performed), EEG and genetic testing (if not already done). The following procedures are subject to local/institutional policies and the medical discretion of the Study Physician: MRI, lumbar puncture (spinal tap) and General anesthesia/sedation (for MRI and LP).

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• 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)

Locations
United States
California
UCSF Benioff Children's Hospital Oakland
Recruiting
Oakland
Pennsylvania
Children's Hospital of Philadelphia
Recruiting
Philadelphia
Other Locations
Brazil
Hospital de Clínicas de Porto Alegre
Recruiting
Porto Alegre
Canada
Montreal Children's Hospital Research Institute - McGill University
Recruiting
Montreal
Turkey
Gazi University
Recruiting
Ankara
United Kingdom
UCL Great Ormond Street Institute of Child Health
Recruiting
London
Contact Information
Primary
Sonate Gandonu-Solomon
sonate.gandonu-solomon@pennmedicine.upenn.edu
215-360-9623
Time Frame
Start Date: June 12, 2020
Estimated Completion Date: February 28, 2024
Participants
Target number of participants: 40
Treatments
Infantile (Type 1) or Juvenile (Type 2) GM1 Gangliosidosis
This study observes one cohort: up to 40 Infantile GM1 (Type 1) or Juvenile GM1 (Type 2) subjects.
Sponsors
Collaborators: Passage Bio, Inc.
Leads: University of Pennsylvania

This content was sourced from clinicaltrials.gov

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