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

October 17, 2023 updated by: Azafaros A.G.

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

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

Study Overview

Status

Active, not recruiting

Conditions

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 Type

Observational

Enrollment (Actual)

31

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Brazil
      • Curitiba, Brazil
        • Hospital Pequeno Principe
      • Porto Alegre, Brazil
        • Hospital de Clinicas de Porto Alegre
  • France
      • Marseille, France
        • Hopital d'Enfants CHU Timone
      • Paris, France
        • Armand-Trousseau Children's Hospital - CHU Paris Est
      • Toulouse, France
        • Hôpital des Enfants - CHU Toulouse Purpan
  • Germany
      • Gießen, Germany
        • Universtitäsklinikum Giessen und Marburg
      • Munich, Germany
        • LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik
  • Italy
      • Catania, Italy
        • Universita' di Catania
      • Milan, Italy
        • Fondazione IRCCS Istituto Neurologico Carlo Besta
      • Udine, Italy
        • University Hospital Friuli Centrale
  • United Kingdom
      • London, United Kingdom
        • Great Ormond Street Hospital NHSFT
  • United States
    • California
      • Oakland, California, United States, 94609
        • UCSF Benioff Children's Hospital
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic Rochester

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 20 years (Child, Adult)

Accepts Healthy Volunteers

No

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

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

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Time Frame: 0-4 years
Stance score between 0 (better) and 6 (worse) points Sitting score between 0 (better) and 4 (worse) points Finger chase test score between 0 (better) and 4 (worse) points Nose-finger test score between 0 (better) and 4 (worse) points Fast alternating hand movements test score between 0 (better) and 4 (worse) points Heel-shin slide score between 0 (better) and 4 (worse) points
0-4 years
Change in the total score of the Motor Function Measure-32 (MFM-32), and each of the 3 domains
Time Frame: 0-4 years
The scoring of each item uses a 4-point Likert scale - score between 0 (worse) and 3 (better)
0-4 years
Change of Timed Up & Go
Time Frame: 0-4 years
Time a patient takes to rise from a chair, walk 3 meters, turn around 180°, walk back to the chair, and sit down while turning 180°
0-4 years
Change in swallowing score
Time Frame: 0-4 years
Assessment of patient swallowing ability - score between 0 (better) and 5 (worse)
0-4 years
Change in the overall composite score of the Vineland Adaptive Behavioral Scale (VABS)
Time Frame: 0-4 years
Rated on 0 (never performed),1, 2 (habitually performed) scale
0-4 years
Change in BSFC-s score for each of the 10 items and overall score
Time Frame: 0-4 years
Rated on a 4-point scale with the values "strongly disagree", "disagree", "agree", and "strongly agree"
0-4 years
Collection of seizures events, choking episodes, respiratory tract infections
Time Frame: 0-4 years
Gathering data about presence/absence and frequency of seizures, choking episodes, respiratory tract infections
0-4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Azafaros A.G.

Investigators

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 22, 2022

Primary Completion (Estimated)

May 30, 2026

Study Completion (Estimated)

May 30, 2026

Study Registration Dates

First Submitted

October 8, 2021

First Submitted That Met QC Criteria

October 25, 2021

First Posted (Actual)

November 5, 2021

Study Record Updates

Last Update Posted (Actual)

October 18, 2023

Last Update Submitted That Met QC Criteria

October 17, 2023

Last Verified

October 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AZA-001-5A4-01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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