for people ages 2-20 (full criteria)
at Oakland, California and other locations
study started
estimated completion
Principal Investigator
by Paul Harmatz, MD



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

Official Title

Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis


The study is a prospective longitudinal, multicentric decentralized trial which will be performed in children diagnosed with late infantile or juvenile onset of neurological disease of either GM1 or GM2 Gangliosidoses (Tay-Sachs or Sandhoff disease). The study plans to enroll at least 75 patients worldwide. A large set of neurological functions will be evaluated by rating scales used by physicians and questionnaires answered by parents. Digital tools will be used to support the study procedures with virtual visits and also a passive monitoring approach with a medical device.


GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease, GM2 Gangliosidosis, Natural History Study, Lysosomal Storage Disorders, Nervous System Diseases, Genetic Diseases, Inborn, Hexosaminidase A and B deficiency, β-galactosidase deficiency, Gangliosidoses, GM2 Gangliosidoses


You can join if…

Open to people ages 2-20

  • Genetically confirmed GM1 Gangliosidosis or genetically confirmed Tay-Sachs or Sandhoff disease
  • Onset of neurological symptoms on or after the patient's first birthday
  • Achieved 12-month developmental milestones at normal developmental time points as per Principal Investigator's judgement
  • Abnormal gait and/or speech disturbance

You CAN'T join if...

  • Patients who have received (within 6 months before screening), are currently receiving or are planned to receive (within the following 6 months) gene therapy, stem cell transplantation, experimental drugs, or any drug, which, in the Investigator´s opinion, may (have) interfere(d) with disease progression


  • UCSF Benioff Children's Hospital accepting new patients
    Oakland California 94609 United States
  • Mayo Clinic Rochester accepting new patients
    Rochester Minnesota 55905 United States

Lead Scientist at UCSF

  • Paul Harmatz, MD
    Professor, Pediatrics, School of Medicine. Authored (or co-authored) 211 research publications


accepting new patients
Start Date
Completion Date
Azafaros A.G.
Study Type
Expecting 75 study participants
Last Updated