GM1 GangliosidosisRETRIEVENCT04470713
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
An observational study of GM1 Gangliosidosis and GM2 Gangliosidosis, run by Idorsia Pharmaceuticals Ltd. at 17 sites in 10 countries.
Trial summary
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Read more about this study
- Who is it for?
- Ages 0 months and older
- Conditions the study is for
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2
- How many people
- 226 participants
- Where
- 17 sitesin 10 countries
- Study dates
- 31 Jul 2019to 30 Oct 2021
- 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 0 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This study will be conducted in hospitals/clinical centers managing pediatric patients with GM1 gangliosidosis, GM2 gangliosidoses, and/or Gaucher Disease type 2 across several countries in North America, South America, and Europe. In order to minimize the patient/data selection bias, the centers are asked to include all eligible patients from their center.
Who may be able to join
- Patient with either GM1 gangliosidosis, GM2 gangliosidoses (Tay-Sachs, Sandhoff, or AB Variant), or Gaucher Disease Type 2.
- Diagnosis confirmed by either biochemical (enzyme activity) or genetic testing, or both.
- Date of birth on or after 1 January 2000.
- Onset of first neurological symptom within 24 months of age.
- Informed consent of parent or legal guardian as required by local law.
Who cannot join
None listed.
Trial locations and contacts
17 sites in 10 countries.
17 sites in 10 countries
United States3 sites
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Lysosomal and Rare Disorders Research and Treatment Center
Fairfax, Virginia, 22030
Mayo Clinic - Rochester
Rochester, Minnesota, 55905
Italy2 sites
Azienda Ospedaliero Universitaria Meyer
Florence, 50139
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Milan, 20133
Portugal2 sites
Centro Hospitalar Universitario Lisboa Norte, EPE
Lisbon, 1649-035
Centro Universitario Hospitalar de São João, EPE
Porto, 4200-319
Spain2 sites
Hospital Sant Joan de Deu
Barcelona, 08950
Quirónsalud
Zaragoza, 50006
Switzerland2 sites
Universitätsspital Bern Inselspital
Bern, CH-3010
Universitäts-Kinderspital Zürich
Zurich, CH-8032
United Kingdom2 sites
University Hospitals Birmingham NHS Foundation Trust
Birmingham, B4 6NH
Great Ormond Street Hospital for Children NHS Found. Trust
London, WC1N 3JH
Brazil1 site
Hospital de Clínicas de Porto Alegre - HCPA
Porto Alegre, 90035-903
About this study
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Retrospective data collection is planned for at least 150 deceased patients (Group A). Group B is for patients alive at the time of enrollment. In Group B it is planned to prospectively collect more comprehensive data from at least 30 patients. The purpose of this study is to collect relevant information for a adequate design of a potential subsequent research program in these diseases.
In this study no therapy is being offered.
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease
- Medical subject headings
- Gangliosidosis, GM1, Gangliosidoses, GM2, Gaucher Disease, Tay-Sachs Disease, Tay-Sachs Disease, AB Variant, Sandhoff Disease
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 |
|---|---|---|
| Group A - Retrospective data collection | Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment. | |
| Group B - Prospective data collection | Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2
Measured: 2.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2020
- Study start31 Jul 2019
- Primary completion30 Oct 2021
- Study completion30 Oct 2021
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
- Case only
- Time perspective
- Other
- Enrolment
- 226 participants (actual)
Sponsor and investigators
- Lead sponsor
- Idorsia Pharmaceuticals Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trials, Study director, Idorsia Pharmaceuticals Ltd.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04470713
- Sponsor's protocol ID
- ID-085A301
- Other IDs
- 2019-01125, 2019
- Acronym
- RETRIEVE
- Status last verified
- Nov 2021
- First submitted
- 10 Jul 2020
- Last updated
- 8 Nov 2021
- 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 8 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
- ClinicalTrials.gov ID
- NCT04470713
- Acronym / sponsor ID
- RETRIEVE / ID-085A301
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 226 participants (actual)
- Lead sponsor
- Idorsia Pharmaceuticals Ltd.Industry (pharma, biotech, devices)
- Study start
- 31 Jul 2019 (actual)
- Primary completion
- 30 Oct 2021 (actual)
- Study completion
- 30 Oct 2021 (actual)
- First posted
- 14 Jul 2020 (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.
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Retrospective data collection is planned for at least 150 deceased patients (Group A). Group B is for patients alive at the time of enrollment. In Group B it is planned to prospectively collect more comprehensive data from at least 30 patients. The purpose of this study is to collect relevant information for a adequate design of a potential subsequent research program in these diseases.
In this study no therapy is being offered.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group A - Retrospective data collection | – | –Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment. |
| Group B - Prospective data collection | – | –Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care. |
Who may qualify
- Ages
- 0 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will be conducted in hospitals/clinical centers managing pediatric patients with GM1 gangliosidosis, GM2 gangliosidoses, and/or Gaucher Disease type 2 across several countries in North America, South America, and Europe. In order to minimize the patient/data selection bias, the centers are asked to include all eligible patients from their center.
Key inclusion criteria (5 listed)
- Patient with either GM1 gangliosidosis, GM2 gangliosidoses (Tay-Sachs, Sandhoff, or AB Variant), or Gaucher Disease Type 2.
- Diagnosis confirmed by either biochemical (enzyme activity) or genetic testing, or both.
- Date of birth on or after 1 January 2000.
- Onset of first neurological symptom within 24 months of age.
- Informed consent of parent or legal guardian as required by local law.
Key exclusion criteria (0 listed)
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
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2
Time frame: 2.5 years
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 8 Nov 2021.
- Individual participant dataSharing planned: No
Related trials for GM1 Gangliosidosis
RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Active, not recruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Gangliosidoses, GM2, Gangliosidosis, GM1
RecruitingPhase 1/2
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Lysosomal Diseases, Gangliosidosis
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.
Clinical Trials study director
Idorsia Pharmaceuticals Ltd.
17 sites in 10 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GM1 Gangliosidosis and GM2 Gangliosidosis, run by Idorsia Pharmaceuticals Ltd. at 17 sites in 10 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 5 inclusion and 0 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 8 Nov 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 17 sites in United States, Italy, Portugal, Spain, Switzerland and 5 more countries. 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?
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2 (time frame: 2.5 years). 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 8 Nov 2021; AzTrials last refreshed its copy on 7 Nov 2026.