at Oakland, California and other locations
study started
estimated completion



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).


GM1 Gangliosidosis GM1 GM1 Type 1 GM1 Type 2 GM1 gangliosidosis Type 1 GM1 gangliosidosis Type 2 GM1 natural history study GM1 gangliosidosis natural history study Lysosomal Storage Disorders Lysosomal Disorders Gangliosidoses Gangliosidosis, GM1


You can join if…

  1. Documentation/ Confirmation of reduced beta-galactosidase enzyme activity in leukocytes
  2. Confirmed diagnosis of infantile or juvenile GM1 gangliosidosis with documentation of GLB1 mutations
  3. Parent/Caregiver capable of providing informed consent (if cognitively able, child to provide assent as well)
  4. 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)
  5. 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)

You CAN'T join if...

  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 GM1 gangliosidosis 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 at undue risk or make it unsafe for the subject to participate


  • UCSF Benioff Children's Hospital Oakland not yet accepting patients
    Oakland California 94610 United States
  • University of Minnesota not yet accepting patients
    Minneapolis Minnesota 55455 United States


accepting new patients
Start Date
Completion Date
University of Pennsylvania
Study Type
Last Updated