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

Last updated: September 24, 2025
Sponsor: Azafaros A.G.
Overall Status: Completed

Phase

N/A

Condition

Neuronal Ceroid Lipofuscinoses (Ncl)

Bone Marrow Disorder

Neurologic Disorders

Treatment

N/A

Clinical Study ID

NCT05109793
AZA-001-5A4-01
  • Ages 2-20
  • All Genders

Study Summary

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

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Genetically confirmed GM1 Gangliosidosis or genetically confirmed Tay-Sachs orSandhoff disease

  • Onset of neurological symptoms on or after the patient's first birthday

  • Achieved 12-month developmental milestones at normal developmental time points asper Principal Investigator's judgement

  • Abnormal gait and/or speech disturbance

Exclusion

Exclusion Criteria:

  • Patients who have received (within 6 months before screening), are currentlyreceiving or are planned to receive (within the following 6 months) gene therapy,stem cell transplantation, experimental drugs, or any drug, which, in theInvestigator´s opinion, may (have) interfere(d) with disease progression

Study Design

Total Participants: 31
Study Start date:
February 22, 2022
Estimated Completion Date:
September 16, 2025

Study 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.

Connect with a study center

  • Hospital Pequeno Principe

    Curitiba,
    Brazil

    Site Not Available

  • Hospital Pequeno Principe

    Curitiba 3464975,
    Brazil

    Site Not Available

  • Hospital de Clinicas de Porto Alegre

    Porto Alegre,
    Brazil

    Site Not Available

  • Hospital de Clinicas de Porto Alegre

    Porto Alegre 3452925,
    Brazil

    Site Not Available

  • Hopital d'Enfants CHU Timone

    Marseille,
    France

    Site Not Available

  • Hopital d'Enfants CHU Timone

    Marseille 2995469,
    France

    Site Not Available

  • Armand-Trousseau Children's Hospital - CHU Paris Est

    Paris,
    France

    Site Not Available

  • Armand-Trousseau Children's Hospital - CHU Paris Est

    Paris 2988507,
    France

    Site Not Available

  • Hôpital des Enfants - CHU Toulouse Purpan

    Toulouse,
    France

    Site Not Available

  • Hôpital des Enfants - CHU Toulouse Purpan

    Toulouse 2972315,
    France

    Site Not Available

  • Universtitäsklinikum Giessen und Marburg

    Giessen 2920512,
    Germany

    Site Not Available

  • Universtitäsklinikum Giessen und Marburg

    Gießen,
    Germany

    Site Not Available

  • LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik

    Munich,
    Germany

    Site Not Available

  • LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik

    Munich 2867714,
    Germany

    Site Not Available

  • Universita' di Catania

    Catania,
    Italy

    Site Not Available

  • Universita' di Catania

    Catania 2525068,
    Italy

    Site Not Available

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan,
    Italy

    Site Not Available

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan 3173435,
    Italy

    Site Not Available

  • University Hospital Friuli Centrale

    Udine,
    Italy

    Site Not Available

  • University Hospital Friuli Centrale

    Udine 3165072,
    Italy

    Site Not Available

  • Birmingham Children's Hospital NHS Foundation Trust

    Birmingham,
    United Kingdom

    Site Not Available

  • Great Ormond Street Hospital NHSFT

    London,
    United Kingdom

    Site Not Available

  • Great Ormond Street Hospital NHSFT

    London 2643743,
    United Kingdom

    Site Not Available

  • UCSF Benioff Children's Hospital

    Oakland, California 94609
    United States

    Site Not Available

  • UCSF Benioff Children's Hospital

    Oakland 5378538, California 5332921 94609
    United States

    Site Not Available

  • Mayo Clinic Rochester

    Rochester, Minnesota 55905
    United States

    Site Not Available

  • Mayo Clinic Rochester

    Rochester 5043473, Minnesota 5037779 55905
    United States

    Site Not Available

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