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

Sandhoff Disease Clinical Trial

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Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04470713
• Other study ID #: ID-085A301
• Secondary ID: 2019-01125
• Status: Completed
• Start date: July 31, 2019
• Est. completion date: October 30, 2021

Study information

• Verified date: November 2021
• Source: Idorsia Pharmaceuticals Ltd.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 226
• Est. completion date: October 30, 2021
• Est. primary completion date: October 30, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• AB Variant Gangliosidosis GM2
• Gangliosidoses
• Gangliosidoses, GM2
• Gangliosidosis, GM1
• Gaucher Disease
• Gaucher Disease, Type 2
• GM1 Gangliosidosis
• GM2 Gangliosidosis
• Sandhoff Disease
• Tay-Sachs Disease

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Idorsia Pharmaceuticals Ltd.

Countries where clinical trial is conducted

United States,  Belgium,  Brazil,  France,  Germany,  Italy,  Portugal,  Spain,  Switzerland,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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
Primary	Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2		2.5 years