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GM1 Gangliosidosis clinical trials at UCSF

2 research studies open to eligible people

GM1 Gangliosidosis is a rare genetic disease that affects the nervous system. UCSF is conducting clinical trials for infants and juveniles with this condition. One study is aimed at understanding the disease as a whole because it progresses quickly and is often fatal. Another trial is studying the neurological development of GM1 and GM2 Gangliosidosis patients over time.

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  • GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

    open to eligible people ages 2-20

    The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).

    Oakland, California and other locations

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

    open to all eligible people

    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).

    Oakland, California and other locations

Our lead scientists for GM1 Gangliosidosis research studies include .

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