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

Brief Title

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

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.
    



Study Type

Observational


Primary Outcome

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


Condition

GM1 Gangliosidosis


Study Arms / Comparison Groups

 Group A - Retrospective data collection
Description:  Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

226

Start Date

July 31, 2019

Completion Date

October 30, 2021

Primary Completion Date

October 30, 2021

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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Clinical Trials, , 

Location Countries

Belgium

Location Countries

Belgium

Administrative Informations


NCT ID

NCT04470713

Organization ID

ID-085A301

Secondary IDs

2019-01125

Responsible Party

Sponsor

Study Sponsor

Idorsia Pharmaceuticals Ltd.


Study Sponsor

Clinical Trials, Study Director, Idorsia Pharmaceuticals Ltd.


Verification Date

November 2021