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

Azafaros A.G.31 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

GM1 Gangliosidosis Sandhoff Disease Tay-Sachs Disease

Eligibility

Sex: ALLMin age: 2 YearsMax age: 20 Years

Medical Language ↔ Plain English

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

Locations (13)

UCSF Benioff Children's Hospital

Oakland, California, United States

Mayo Clinic Rochester

Rochester, Minnesota, United States

Hospital Pequeno Principe

Curitiba, Brazil

Outcomes

Primary Outcomes

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

Time frame: 0-4 years

Change in the Speech 7-point item score of SARA

Score between 0 (better) and 6 (worse) points

Time frame: 0-4 years

Data from ClinicalTrials.gov

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