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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-01125 | Other Identifier | BASEC |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2 | 2.5 years |
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| Measure | Description | Time Frame |
|---|---|---|
| Epidemiological data available from medical records | Patients' medical record data such as date of diagnosis, the date of appearance of first neurological symptom, dates of gain or loss of specific abilities (e.g. ability to sit) will be collected, if available. | 2.5 years |
Inclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Clinical Trials | Idorsia Pharmaceuticals Ltd. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Ann & Robert H. Lurie Children's Hospital of Chicago | Chicago | Illinois | 60611 | United States | ||
| Mayo Clinic - Rochester |
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| Rochester |
| Minnesota |
| 55905 |
| United States |
| Lysosomal and Rare Disorders Research and Treatment Center | Fairfax | Virginia | 22030 | United States |
| UCL Cliniques Universitaires Saint-Luc | Brussels | 1020 | Belgium |
| Hospital de Clínicas de Porto Alegre - HCPA | Porto Alegre | 90035-903 | Brazil |
| AP-HP - Hôpitaux Universitaires Est Parisien | Paris | 75012 | France |
| SphinCS GmbH | Höchheim | 65239 | Germany |
| Azienda Ospedaliero Universitaria Meyer | Florence | 50139 | Italy |
| Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | Milan | 20133 | Italy |
| Centro Hospitalar Universitario Lisboa Norte, EPE | Lisbon | 1649-035 | Portugal |
| Centro Universitario Hospitalar de São João, EPE | Porto | 4200-319 | Portugal |
| Hospital Sant Joan de Deu | Barcelona | 08950 | Spain |
| Quirónsalud | Zaragoza | 50006 | Spain |
| Universitätsspital Bern Inselspital | Bern | CH-3010 | Switzerland |
| Universitäts-Kinderspital Zürich | Zurich | CH-8032 | Switzerland |
| University Hospitals Birmingham NHS Foundation Trust | Birmingham | B4 6NH | United Kingdom |
| Great Ormond Street Hospital for Children NHS Found. Trust | London | WC1N 3JH | United Kingdom |
| ID | Term |
|---|---|
| D016537 | Gangliosidosis, GM1 |
| D020143 | Gangliosidoses, GM2 |
| D005776 | Gaucher Disease |
| D013661 | Tay-Sachs Disease |
| D049290 | Tay-Sachs Disease, AB Variant |
| D012497 | Sandhoff Disease |
| ID | Term |
|---|---|
| D005733 | Gangliosidoses |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
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