NCT05109793

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 31 (actual)
• Sponsor: Azafaros A.G. · Industry
• Sex: All
• Age: 2 Years – 20 Years
• Healthy volunteers: Not accepted

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.

Conditions

• GM1 Gangliosidosis
• Sandhoff Disease
• Tay-Sachs Disease

Timeline

• Start date: 2022-02-22
• Primary completion: 2025-09-16
• Completion: 2025-09-16
• First posted: 2021-11-05
• Last updated: 2025-09-29

Locations

13 sites across 6 countries: United States, Brazil, France, Germany, Italy, United Kingdom