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

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.

Study Overview

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

• Study Type: Observational
• Enrollment (Actual): 226

Contacts and Locations

Study Locations

• Belgium
  • Bruxelles, Belgium, 1020
    • UCL Cliniques universitaires Saint-Luc
• Brazil
  • Porto Alegre, Brazil, 90035-903
    • Hospital de Clinicas de Porto Alegre - HCPA
• France
  • Paris, France, 75012
    • AP-HP - Hôpitaux Universitaires Est Parisien
• Germany
  • Hochheim, Germany, 65239
    • SphinCS GmbH
• Italy
  • Florence, Italy, 50139
    • Azienda Ospedaliero Universitaria Meyer
  • Milano, Italy, 20133
    • Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
• Portugal
  • Lisboa, Portugal, 1649-035
    • Centro Hospitalar Universitario Lisboa Norte, EPE
  • Porto, Portugal, 4200-319
    • Centro Universitario Hospitalar de São João, EPE
• Spain
  • Barcelona, Spain, 08950
    • Hospital Sant Joan de Deu
  • Zaragoza, Spain, 50006
    • Quironsalud
• Switzerland
  • Bern, Switzerland, CH-3010
    • Universitätsspital Bern Inselspital
  • Zürich, Switzerland, CH-8032
    • Universitäts-Kinderspital Zürich
• United Kingdom
  • Birmingham, United Kingdom, B4 6NH
    • University Hospitals Birmingham NHS Foundation Trust
  • London, United Kingdom, WC1N 3JH
    • Great Ormond Street Hospital for Children NHS Found. Trust
• United States
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic - Rochester
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal and Rare Disorders Research and Treatment Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Idorsia Pharmaceuticals Ltd.

Study record dates

Study Major Dates

• Study Start (Actual): July 31, 2019
• Primary Completion (Actual): October 30, 2021
• Study Completion (Actual): October 30, 2021

Study Registration Dates

• First Submitted: July 10, 2020
• First Submitted That Met QC Criteria: July 10, 2020
• First Posted (Actual): July 14, 2020

Study Record Updates

• Last Update Posted (Actual): November 8, 2021
• Last Update Submitted That Met QC Criteria: November 5, 2021
• Last Verified: November 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gangliosidoses; Gangliosidosis, GM1; Gaucher Disease; Gangliosidoses, GM2; Tay-Sachs Disease; Sandhoff Disease; Tay-Sachs Disease, AB Variant
• Other Study ID Numbers: ID-085A301; 2019-01125 (Other Identifier: BASEC)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No