Last updated on March 2020

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


Brief description of study

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. A natural history data set to assess disease progression, particularly in the infantile population, and to explore potential efficacy endpoints and biomarkers for future clinical trials would benefit both the scientific and patient communities. 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. The procedures/interactions include: physical & neurological exam, blood & urine sample collection, questionnaires & assessments of development, ECHO, ECG, x-ray and ultrasound (if MRI not performed). Optional procedures include: EEG, general anesthesia (for MRI and LP), MRI and lumbar puncture (spinal tap).

Clinical Study Identifier: NCT04041102

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