GM1 GangliosidosisPRONTONCT05109793
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
An observational study of GM1 Gangliosidosis and Sandhoff Disease, run by Azafaros B.V. at 13 sites in 6 countries.
Trial summary
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant). Read more about this study
- Who is it for?
- Ages 2 to 20 years
- Conditions the study is for
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- How many people
- 31 participants
- Where
- 13 sitesin 6 countries
- Study dates
- 22 Feb 2022to 16 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
13 sites in 6 countries.
13 sites in 6 countries
France3 sites
Hopital d'Enfants CHU Timone
Marseille
Armand-Trousseau Children's Hospital - CHU Paris Est
Paris
Hôpital des Enfants - CHU Toulouse Purpan
Toulouse
Italy3 sites
Universita' di Catania
Catania
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan
University Hospital Friuli Centrale
Udine
United States2 sites
UCSF Benioff Children's Hospital
Oakland, California, 94609
Mayo Clinic Rochester
Rochester, Minnesota, 55905
Brazil2 sites
Hospital Pequeno Principe
Curitiba
Hospital de Clinicas de Porto Alegre
Porto Alegre
Germany2 sites
Universtitäsklinikum Giessen und Marburg
Giessen
LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik
Munich
About this study
Official title: Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
Read the 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 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.
- Conditions
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- Keywords
- 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
- Medical subject headings
- Gangliosidosis, GM1, Sandhoff Disease, Tay-Sachs Disease, Gangliosidoses, GM2, Lysosomal Storage Diseases, Nervous System Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort | Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. The study anticipates to include a total of approximately 35 patients. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA)
Score between 0 (better) and 8 (worse) points
Measured: 0-4 years
Change in the Speech 7-point item score of SARA
Score between 0 (better) and 6 (worse) points
Measured: 0-4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Nov 2021
- Study start22 Feb 2022
- Primary completion16 Sep 2025
- Study completion16 Sep 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GM1 GangliosidosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- Azafaros B.V.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05109793
- Sponsor's protocol ID
- AZA-001-5A4-01
- Acronym
- PRONTO
- Status last verified
- Sep 2025
- First submitted
- 8 Oct 2021
- Last updated
- 29 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis
- ClinicalTrials.gov ID
- NCT05109793
- Acronym / sponsor ID
- PRONTO / AZA-001-5A4-01
- Conditions
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- Keywords
- GM1 Gangliosidosis, GM2 Gangliosidosis, Natural History Study, Lysosomal Storage Disorders, Nervous System Diseases, Tay-Sachs disease, Sandhoff disease, Genetic Diseases, Inborn
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- Azafaros B.V.Industry (pharma, biotech, devices)
- Study start
- 22 Feb 2022 (actual)
- Primary completion
- 16 Sep 2025 (actual)
- Study completion
- 16 Sep 2025 (actual)
- First posted
- 5 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
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 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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort | – | –Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. The study anticipates to include a total of approximately 35 patients. |
Who may qualify
- Ages
- 2 to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Change in the Speech 7-point item score of SARA
Time frame: 0-4 years
Score between 0 (better) and 6 (worse) points
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
13 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GM1 Gangliosidosis and Sandhoff Disease, run by Azafaros B.V. at 13 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in France, Italy, United States, Brazil, Germany and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA) (time frame: 0-4 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2025.