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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT05109793
Recruitment Status : Recruiting
First Posted : November 5, 2021
Last Update Posted : June 21, 2022
Information provided by (Responsible Party):
Azafaros A.G.

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).

Condition or disease
GM1 Gangliosidosis Sandhoff Disease Tay-Sachs Disease

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.

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Study Type : Observational
Estimated Enrollment : 75 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis
Actual Study Start Date : February 22, 2022
Estimated Primary Completion Date : February 22, 2026
Estimated Study Completion Date : February 22, 2026

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

Primary Outcome Measures :
  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 Outcome Measures:
  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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05109793

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Contact: Cécile Paquet-Luzy + 41 79 631 71 46
Contact: Emilie Doppler

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United States, Minnesota
Mayo Clinic Rochester Recruiting
Rochester, Minnesota, United States, 55905
Contact: Marc Patterson, MD    507-284-3351   
Hospital Pequeno Principe Recruiting
Curitiba, Brazil
Contact: Daniel Almeida do Valle, MD    41.3310.1356      
Hospital de Clinicas de Porto Alegre Recruiting
Porto Alegre, Brazil
Contact: Roberto Giugliani, MD    51 3359 6340   
Hopital d'Enfants CHU Timone Recruiting
Marseille, France
Contact: Brigitte Chabrol, MD    + 33 (0) 4 91 38 48 00   
Armand-Trousseau Children's Hospital - CHU Paris Est Recruiting
Paris, France
Contact: Benedicte Heron, MD    +33 (0)1 40 87 52 86   
Contact: Minhhanh Triboulet, MD    +33 (0)6 77 71 41 59   
Universtitäsklinikum Giessen und Marburg Recruiting
Gießen, Germany
Contact: Andreas Hahn, MD    +49 98543543   
LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik Recruiting
Munich, Germany
Contact: Susanne Schneider, MD    +49 89 4400 76977   
Contact: Ivonne Naumann, MD   
Universita' di Catania Recruiting
Catania, Italy
Contact: Agata Fiumara, MD    390953781193   
University Hospital Friuli Centrale Recruiting
Udine, Italy
Contact: Maurizio Scarpa, MD    390432559914   
United Kingdom
Birmingham Children's Hospital NHS Foundation Trust Recruiting
Birmingham, United Kingdom
Contact: Suresh Vijayaraghavan, MD    0121 333 9908   
Great Ormond Street Hospital NHSFT Recruiting
London, United Kingdom
Contact: Spyros Batzios, MD    +4402074059200 EXT 5539   
Sponsors and Collaborators
Azafaros A.G.
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Study Director: Ruben Giorgino, MD, PhD Azafaros A.G.
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Responsible Party: Azafaros A.G. Identifier: NCT05109793    
Other Study ID Numbers: AZA-001-5A4-01
First Posted: November 5, 2021    Key Record Dates
Last Update Posted: June 21, 2022
Last Verified: June 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Azafaros A.G.:
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
Additional relevant MeSH terms:
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Nervous System Diseases
Tay-Sachs Disease
Gangliosidosis, GM1
Sandhoff Disease
Gangliosidoses, GM2
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders