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

Brief Title

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

Official Title

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

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 plans to
      enroll at least 75 patients worldwide. 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 Type


Primary Outcome

Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA)


GM1 Gangliosidosis

Study Arms / Comparison Groups

Description:  Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. This study will enrol a minimum of 75 patients in total, including at least 25 patients with GM1 Gangliosidosis and 25 patients with GM2 Gangliosidosis


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

February 22, 2022

Completion Date

February 22, 2026

Primary Completion Date

February 22, 2026

Eligibility Criteria

        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




2 Years - 20 Years

Accepts Healthy Volunteers



Ruben Giorgino, MD, PhD, + 41 79 631 71 46, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Azafaros A.G.

Study Sponsor

Ruben Giorgino, MD, PhD, Study Director, Azafaros A.G.

Verification Date

October 2022