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New study maps how rare brain diseases worsen over time in kids

NCT ID NCT05109793

Knowledge-focused Sponsor: Azafaros B.V. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design future treatments. No new drug or therapy was tested; this was purely an observational study.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

31 people

The number who actually took part.

Started

Feb 2022

Finished

Sep 2025

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease

Ages

2 to 20 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

GM1 gangliosidosis GM2 gangliosidosis hereditary disease lysosomal storage disease nervous system disorder Sandhoff disease Tay-Sachs disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GM1 gangliosidosis Sandhoff disease Tay-Sachs disease

Contacts and locations

Locations

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

    Paris, France

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

  • Great Ormond Street Hospital NHSFT

    London, United Kingdom

  • Hopital d'Enfants CHU Timone

    Marseille, France

  • Hospital Pequeno Principe

    Curitiba, Brazil

  • Hospital de Clinicas de Porto Alegre

    Porto Alegre, Brazil

  • Hôpital des Enfants - CHU Toulouse Purpan

    Toulouse, France

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

    Munich, Germany

  • Mayo Clinic Rochester

    Rochester, Minnesota, 55905, United States

  • UCSF Benioff Children's Hospital

    Oakland, California, 94609, United States

  • Universita' di Catania

    Catania, Italy

  • University Hospital Friuli Centrale

    Udine, Italy

  • Universtitäsklinikum Giessen und Marburg

    Giessen, Germany

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