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

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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Key information

Conditions

GM1 Gangliosidosis AB Variant Gangliosidosis GM2 Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities GM2 Gangliosidosis Gangliosidoses Gangliosidoses, GM2 Gangliosidosis, GM1 Gaucher Disease Gaucher Disease, Type 2 Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sandhoff Disease Sphingolipidoses Tay-Sachs Disease Tay-Sachs Disease, AB Variant

Age range

0 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

UCL Cliniques Universitaires Saint-Luc, Brussels, Belgium

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2

Time frame: 2.5 years

Other outcomes

Epidemiological data available from medical records

Time frame: 2.5 years

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.

Sponsors and collaborators

Lead sponsor

Idorsia Pharmaceuticals Ltd.

Industry

Registry information

Acronym: RETRIEVE

Important dates

Study start: 2019
Primary completion: 2021
Study completion: 2021
First posted: Jul 14, 2020
Registry last updated: Nov 8, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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