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

Last updated: March 17, 2025
Sponsor: Azafaros A.G.
Overall Status: Active - Not Recruiting

Phase

N/A

Condition

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 30, 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 and also a passive monitoring approach with a medical device.

Connect with a study center

  • Hospital Pequeno Principe

    Curitiba,
    Brazil

    Site Not Available

  • Hospital de Clinicas de Porto Alegre

    Porto Alegre,
    Brazil

    Site Not Available

  • Hopital d'Enfants CHU Timone

    Marseille,
    France

    Site Not Available

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

    Paris,
    France

    Site Not Available

  • Hôpital des Enfants - CHU Toulouse Purpan

    Toulouse,
    France

    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

  • Universita' di Catania

    Catania,
    Italy

    Site Not Available

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan,
    Italy

    Site Not Available

  • University Hospital Friuli Centrale

    Udine,
    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

  • UCSF Benioff Children's Hospital

    Oakland, California 94609
    United States

    Site Not Available

  • Mayo Clinic Rochester

    Rochester, Minnesota 55905
    United States

    Site Not Available

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