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

Completed

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

• Registration Number: NCT04470713
• Lead Sponsor: Idorsia Pharmaceuticals Ltd.

Brief 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. 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-07-31
• Study First Submitted: 2020-07-10
• Study First Submitted QC: 2020-07-10
• Study First Posted: 2020-07-14
• Primary Completion: 2021-10-30
• Study Completion: 2021-10-30
• Status Verified: 2021-11
• Last Update Submitted: 2021-11-05
• Last Update Posted: 2021-11-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 226

Inclusion Criteria

• 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.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2	2.5 years

Trial Locations

Locations (17)

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; 🇧🇪 Bruxelles, Belgium

Hospital de Clínicas de Porto Alegre - HCPA; 🇧🇷 Porto Alegre, Brazil

AP-HP - Hôpitaux Universitaires Est Parisien; 🇫🇷 Paris, France

SphinCS GmbH; 🇩🇪 Hochheim, Germany

Azienda Ospedaliero Universitaria Meyer; 🇮🇹 Florence, Italy

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; 🇮🇹 Milano, Italy

Centro Hospitalar Universitario Lisboa Norte, EPE; 🇵🇹 Lisboa, Portugal

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