A Study of Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidosis, or Gaucher Disease Type 2 in Pediatric Patients


About this study

The objectives of this study are to collect data on survival of pediatric patients with early onset of either GM1 gangliosidosis, GM2 gangliosidoses, or GD2, to collect data that can constitute a historical control group for future clinical trials, and to evaluate whether the 3 conditions can be assessed together in a single clinical trial.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria (Group A and B):

  • Patient with either GM1 gangliosidosis, GM2 gangliosidoses (Tay-Sachs, Sandhoff, AB Variant), or GD2.
  • Diagnosis confirmed by either biochemical (enzyme activity) or genetic testing, or both.
  • Date of birth on or after 1 January 2000.
  • Onset of the first neurological symptom within the first 24 months of age.
  • Informed consent of parent or legal guardian as required by local law.

Exclusion Criteria:

  • Any diversion from the above Inclusion Criteria.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Marc Patterson, M.D.

Closed for enrollment

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