Clinical trial NCT04470713: Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Official title: Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: GM1 Gangliosidosis
GM2 Gangliosidosis
Gaucher Disease, Type 2
Tay-Sachs Disease
AB Variant Gangliosidosis GM2
Sandhoff Disease
Lead sponsor: Idorsia Pharmaceuticals Ltd.
Sponsor class: INDUSTRY
First posted: 2020-07-14
Enrollment: 226
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2
timeFrame: 2.5 years
Secondary outcomes:
Other outcomes:
measure: Epidemiological data available from medical records
timeFrame: 2.5 years
Locations:
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Rochester
country: United States
facility: Mayo Clinic - Rochester
state: Minnesota
city: Fairfax
country: United States
facility: Lysosomal and Rare Disorders Research and Treatment Center
state: Virginia
city: Bruxelles
country: Belgium
facility: UCL Cliniques Universitaires Saint-Luc
city: Porto Alegre
country: Brazil
facility: Hospital de Clínicas de Porto Alegre - HCPA
city: Paris
country: France
facility: AP-HP - Hôpitaux Universitaires Est Parisien
city: Hochheim
country: Germany
facility: SphinCS GmbH
city: Florence
country: Italy
facility: Azienda Ospedaliero Universitaria Meyer
city: Milano
country: Italy
facility: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
city: Lisboa
country: Portugal
facility: Centro Hospitalar Universitario Lisboa Norte, EPE
city: Porto
country: Portugal
facility: Centro Universitario Hospitalar de São João, EPE
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Deu
city: Zaragoza
country: Spain
facility: Quirónsalud
city: Bern
country: Switzerland
facility: Universitätsspital Bern Inselspital
city: Zürich
country: Switzerland
facility: Universitäts-Kinderspital Zürich
city: Birmingham
country: United Kingdom
facility: University Hospitals Birmingham NHS Foundation Trust
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Children NHS Found. Trust
Study officials:
affiliation: Idorsia Pharmaceuticals Ltd.
name: Clinical Trials
role: STUDY_DIRECTOR
References: