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

NCT05109793 | Completed

• 1 other identifier: AZA-001-5A4-01
• Study Type: observational
• Target: 31
• Locations: 6 countries
• Sites: 13

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).

Conditions

GM1 Gangliosidosis; Sandhoff Disease; Tay-Sachs Disease

Keywords

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

Outcome Measures

Primary Outcomes (2)

• 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

Other Outcomes (7)

• Change in scores of SARA items Stance (7-point), Sitting (5-point), Finger chase (5-point), Nose-finger test (5-point), Fast alternating hand movement (5-point), Heel-shin slide (5-point) and overall score.

  0-4 years

• Change in the total score of the Motor Function Measure-32 (MFM-32), and each of the 3 domains

  0-4 years

• Change of Timed Up & Go

  0-4 years

Study Arms (1)

Cohort

Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. The study anticipates to include a total of approximately 35 patients.

Eligibility Criteria

• Age: 2 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease

You may qualify if:

• 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 may not qualify 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

Sponsors & Collaborators

• Azafaros A.G.: lead

Study Sites (13)

UCSF Benioff Children's Hospital

Oakland, California, 94609, United States

Location

Mayo Clinic Rochester

Rochester, Minnesota, 55905, United States

Location

Hospital Pequeno Principe

Curitiba, Brazil

Location

Hospital de Clinicas de Porto Alegre

Porto Alegre, Brazil

Location

Hopital d'Enfants CHU Timone

Marseille, France

Location

Armand-Trousseau Children's Hospital - CHU Paris Est

Paris, France

Location

Hôpital des Enfants - CHU Toulouse Purpan

Toulouse, France

Location

Universtitäsklinikum Giessen und Marburg

Giessen, Germany

Location

LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik

Munich, Germany

Location

Universita' di Catania

Catania, Italy

Location

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

Location

University Hospital Friuli Centrale

Udine, Italy

Location

Great Ormond Street Hospital NHSFT

London, United Kingdom

Location

MeSH Terms

Conditions

Gangliosidosis, GM1; Sandhoff Disease; Tay-Sachs Disease; Gangliosidoses, GM2; Lysosomal Storage Diseases; Nervous System Diseases; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Gangliosidoses; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 8, 2021
• First Posted: November 5, 2021
• Study Start: February 22, 2022
• Primary Completion: September 16, 2025
• Study Completion: September 16, 2025
• Last Updated: September 29, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (2); IT (3); GB (1); DE (2); FR (3); BR (2)