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

Last updated: October 9, 2024
Sponsor: University of Pennsylvania
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT04041102
ODC-NHS-GM1-001-01
  • All Genders

Study 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 Criteria

Inclusion

Inclusion Criteria:

  1. Documentation/ Confirmation of reduced beta-galactosidase enzyme activity inleukocytes

  2. Confirmed diagnosis of infantile or juvenile GM1 gangliosidosis with documentationof GLB1 mutations

  3. Parent/Caregiver capable of providing informed consent (if cognitively able, childto provide assent as well)

  4. Infantile (Type 1) GM1 subjects: Documented symptom onset by 6 months of age withsignificant 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 ORdocumented symptom onset prior to 6 months of age without significant hypotonia onexam or elicited from parent(s)/ caregiver(s)

Exclusion

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 GM1gangliosidosis 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 atundue risk or make it unsafe for the subject to participate

Study Design

Total Participants: 40
Study Start date:
June 12, 2020
Estimated Completion Date:
December 31, 2026

Connect with a study center

  • Hospital de Clínicas de Porto Alegre

    Porto Alegre,
    Brazil

    Active - Recruiting

  • Montreal Children's Hospital Research Institute - McGill University

    Montreal, Quebec
    Canada

    Active - Recruiting

  • University MC, Mainz

    Mainz,
    Germany

    Site Not Available

  • Gazi University

    Ankara,
    Turkey

    Active - Recruiting

  • UCL Great Ormond Street Institute of Child Health

    London,
    United Kingdom

    Site Not Available

  • UCSF Benioff Children's Hospital Oakland

    Oakland, California 94610
    United States

    Active - Recruiting

  • University of Minnesota

    Minneapolis, Minnesota 55455
    United States

    Site Not Available

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

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