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

NCT04470713 | Completed

• 2 other identifiers: ID-085A3012019-01125
• Study Type: observational
• Target: 226
• Locations: 10 countries
• Sites: 17

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

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

  2.5 years

Other Outcomes (1)

• Epidemiological data available from medical records

  2.5 years

Study Arms (2)

Group A - Retrospective data collection

Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.

Group B - Prospective data collection

Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care.

Eligibility Criteria

• Age: 0 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

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.

Sponsors & Collaborators

• Idorsia Pharmaceuticals Ltd.: lead

Study Sites (17)

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Mayo Clinic - Rochester

Rochester, Minnesota, 55905, United States

Location

Lysosomal and Rare Disorders Research and Treatment Center

Fairfax, Virginia, 22030, United States

Location

UCL Cliniques Universitaires Saint-Luc

Brussels, 1020, Belgium

Location

Hospital de Clínicas de Porto Alegre - HCPA

Porto Alegre, 90035-903, Brazil

Location

AP-HP - Hôpitaux Universitaires Est Parisien

Paris, 75012, France

Location

SphinCS GmbH

Höchheim, 65239, Germany

Location

Azienda Ospedaliero Universitaria Meyer

Florence, 50139, Italy

Location

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Milan, 20133, Italy

Location

Centro Hospitalar Universitario Lisboa Norte, EPE

Lisbon, 1649-035, Portugal

Location

Centro Universitario Hospitalar de São João, EPE

Porto, 4200-319, Portugal

Location

Hospital Sant Joan de Deu

Barcelona, 08950, Spain

Location

Quirónsalud

Zaragoza, 50006, Spain

Location

Universitätsspital Bern Inselspital

Bern, CH-3010, Switzerland

Location

Universitäts-Kinderspital Zürich

Zurich, CH-8032, Switzerland

Location

University Hospitals Birmingham NHS Foundation Trust

Birmingham, B4 6NH, United Kingdom

Location

Great Ormond Street Hospital for Children NHS Found. Trust

London, WC1N 3JH, United Kingdom

Location

MeSH Terms

Conditions

Gangliosidosis, GM1; Gangliosidoses, GM2; Gaucher Disease; Tay-Sachs Disease; Tay-Sachs Disease, AB Variant; Sandhoff Disease

Condition Hierarchy (Ancestors)

Gangliosidoses; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Clinical Trials

  Idorsia Pharmaceuticals Ltd.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 10, 2020
• First Posted: July 14, 2020
• Study Start: July 31, 2019
• Primary Completion: October 30, 2021
• Study Completion: October 30, 2021
• Last Updated: November 8, 2021

Record last verified: 2021-11

Data Sharing

• IPD Sharing: Will not share

Locations

ES (2); BE (1); CH (2); US (3); FR (1); PT (2); BR (1); GB (2); IT (2); DE (1)