Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

Completed

Conditions studied: GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease

In brief

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.

Key facts

Study ID

NCT04470713

Run by

Idorsia Pharmaceuticals Ltd.

People needed

226

Starts

2019-07-31

Expected to finish

2021-10-30

Last updated by the study team

2021-11-08

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

Where it is running

• Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
• Mayo Clinic - Rochester — Rochester, Minnesota, United States
• Lysosomal and Rare Disorders Research and Treatment Center — Fairfax, Virginia, United States
• UCL Cliniques Universitaires Saint-Luc — Brussels, Belgium
• Hospital de Clínicas de Porto Alegre - HCPA — Porto Alegre, Brazil
• AP-HP - Hôpitaux Universitaires Est Parisien — Paris, France
• SphinCS GmbH — Höchheim, Germany
• Azienda Ospedaliero Universitaria Meyer — Florence, Italy
• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta — Milan, Italy
• Centro Hospitalar Universitario Lisboa Norte, EPE — Lisbon, Portugal
• Centro Universitario Hospitalar de São João, EPE — Porto, Portugal
• Hospital Sant Joan de Deu — Barcelona, Spain
• Quirónsalud — Zaragoza, Spain
• Universitätsspital Bern Inselspital — Bern, Switzerland
• Universitäts-Kinderspital Zürich — Zurich, Switzerland
• University Hospitals Birmingham NHS Foundation Trust — Birmingham, United Kingdom
• Great Ormond Street Hospital for Children NHS Found. Trust — London, United Kingdom

Full record on ClinicalTrials.gov

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