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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04470713

Acronym

RETRIEVE

Enrollment

226

Registered

2020-07-14

Start date

2019-07-31

Completion date

2021-10-30

Last updated

2021-11-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

0 Months to No maximum

Healthy volunteers

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.

Design outcomes

Primary

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

Other

Measure	Time frame	Description
Epidemiological data available from medical records	2.5 years	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.

Countries

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

Outcome results