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

Active, not recruiting

• Conditions: Sandhoff Disease; Tay-Sachs Disease; GM1 Gangliosidosis

• Registration Number: NCT05109793
• Lead Sponsor: Azafaros A.G.

Brief Summary

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

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.

Study Timeline

• Study First Submitted: 2021-10-08
• Study First Submitted QC: 2021-10-25
• Study First Posted: 2021-11-05
• Study Start: 2022-02-22
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-17
• Last Update Posted: 2025-03-20
• Primary Completion: 2025-09-30
• Study Completion: 2025-09-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 31

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Trial Locations

Locations (13)

UCSF Benioff Children's Hospital; 🇺🇸 Oakland, California, United States

Armand-Trousseau Children's Hospital - CHU Paris Est; 🇫🇷 Paris, France

Hôpital des Enfants - CHU Toulouse Purpan; 🇫🇷 Toulouse, France

Universtitäsklinikum Giessen und Marburg; 🇩🇪 Gießen, Germany

LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik; 🇩🇪 Munich, Germany

Universita' di Catania; 🇮🇹 Catania, Italy

University Hospital Friuli Centrale; 🇮🇹 Udine, Italy

Great Ormond Street Hospital NHSFT; 🇬🇧 London, United Kingdom

Mayo Clinic Rochester; 🇺🇸 Rochester, Minnesota, United States

Hospital Pequeno Principe; 🇧🇷 Curitiba, Brazil

Hospital de Clinicas de Porto Alegre; 🇧🇷 Porto Alegre, Brazil

Hopital d'Enfants CHU Timone; 🇫🇷 Marseille, France

Fondazione IRCCS Istituto Neurologico Carlo Besta; 🇮🇹 Milan, Italy