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Completed

NCT Number: NCT05109793

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

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

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Key information

Conditions

GM1 Gangliosidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gangliosidoses Gangliosidoses, GM2 Gangliosidosis, GM1 Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sandhoff Disease Sphingolipidoses Tay-Sachs Disease

Age range

2 year–20 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Pequeno Principe, Curitiba, Brazil

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

  2. Change in the Speech 7-point item score of SARA

    Time frame: 0-4 years

    Score between 0 (better) and 6 (worse) points

Other outcomes

  1. 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

  2. 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)

  3. 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°

  4. Change in swallowing score

    Time frame: 0-4 years

    Assessment of patient swallowing ability - score between 0 (better) and 5 (worse)

  5. 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

  6. 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"

  7. 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

Sponsors and collaborators

Lead sponsor

Azafaros B.V.

Industry

Registry information

Official study title

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

Acronym: PRONTO

Important dates

Study start
2022
Primary completion
2025
Study completion
2025
First posted
Nov 5, 2021
Registry last updated
Sep 29, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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