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

NCT04041102 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 31

Last updated 2025-10-24

No results posted yet for this 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).

Conditions

  • GM1 Gangliosidosis

Sponsors & Collaborators

Principal Investigators

  • Can Ficicioglu, MD, PhD · Children's Hospital of Philadelphia

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-06-12
Primary Completion
2024-05-01
Completion
2024-05-01

Countries

  • United States
  • Brazil
  • Canada
  • Turkey (Türkiye)
  • United Kingdom

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04041102 on ClinicalTrials.gov