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

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

Detailed Description
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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 anticipates to include a total of approximately 35 patients. 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.

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

Conditions
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GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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 Exclusion Criteria: 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

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 20 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cohort<br>Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. The study anticipates to include a total of approximately 35 patients. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA) | Score between 0 (better) and 8 (worse) points | 0-4 years | 
| Change in the Speech 7-point item score of SARA | Score between 0 (better) and 6 (worse) points | 0-4 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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GM1 Gangliosidosis, GM2 Gangliosidosis, Natural History Study, Lysosomal Storage Disorders, Nervous System Diseases, Tay-Sachs disease, Sandhoff disease, Genetic Diseases, Inborn, Hexosaminidase A and B deficiency, β-galactosidase deficiency