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

NCT ID: NCT04470713

Last Updated: 2021-11-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

226 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-07-31

Study Completion Date

2021-10-30

Brief Summary

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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.

Detailed Description

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Conditions

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

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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Group A - Retrospective data collection

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

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

0 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Idorsia Pharmaceuticals Ltd.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Clinical Trials

Role: STUDY_DIRECTOR

Idorsia Pharmaceuticals Ltd.

Locations

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

Chicago, Illinois, United States

Site Status

Mayo Clinic - Rochester

Rochester, Minnesota, United States

Site Status

Lysosomal and Rare Disorders Research and Treatment Center

Fairfax, Virginia, United States

Site Status

UCL Cliniques Universitaires Saint-Luc

Brussels, , Belgium

Site Status

Hospital de Clínicas de Porto Alegre - HCPA

Porto Alegre, , Brazil

Site Status

AP-HP - Hôpitaux Universitaires Est Parisien

Paris, , France

Site Status

SphinCS GmbH

Höchheim, , Germany

Site Status

Azienda Ospedaliero Universitaria Meyer

Florence, , Italy

Site Status

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

Milan, , Italy

Site Status

Centro Hospitalar Universitario Lisboa Norte, EPE

Lisbon, , Portugal

Site Status

Centro Universitario Hospitalar de São João, EPE

Porto, , Portugal

Site Status

Hospital Sant Joan de Deu

Barcelona, , Spain

Site Status

Quirónsalud

Zaragoza, , Spain

Site Status

Universitätsspital Bern Inselspital

Bern, , Switzerland

Site Status

Universitäts-Kinderspital Zürich

Zurich, , Switzerland

Site Status

University Hospitals Birmingham NHS Foundation Trust

Birmingham, , United Kingdom

Site Status

Great Ormond Street Hospital for Children NHS Found. Trust

London, , United Kingdom

Site Status

Countries

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

Other Identifiers

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2019-01125

Identifier Type: OTHER

Identifier Source: secondary_id

ID-085A301

Identifier Type: -

Identifier Source: org_study_id