Paediatric study GM1 and GM2 gangliosidoses and Gaucher disease
Research type
Research Study
Full title
Natural history study for paediatric patients with early onset of either GM1 gangliosidosis, GM2 gangliosidoses, or Gaucher disease type 2
IRAS ID
266008
Contact name
Suresh Vijay
Contact email
Sponsor organisation
Idorsia Pharmaceuticals Ltd
Duration of Study in the UK
2 years, 6 months, 22 days
Research summary
Research Summary
GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease type 2 are rare genetic disorders. There is currently no approved treatment for any of these diseases.Currently there is only limited data available to describe the clinical course of these diseases and the survival of patients. These disorders have different causes, but the similarities in the age of onset, neurological manifestations, and the short life span of patients with early onset of any of these conditions allows them to be studied under a single protocol.The data collected will broaden the knowledge of the natural history of the diseases in question and can serve as a historical control group for future clinical development programmes.The study is an international, multi-centre, observational study looking at two groups of patients: Group A (deceased patients and those whose survival status is not known), and Group B (living patients).Retrospective medical history data will be collected for both groups, and for Group B there will be prospective data collection until the end of 2021. The prospective part of the study will not involve any additional visits or investigations for patients. The data collected will be that which is recorded as part of their usual care.Patients with any one of the three diseases under study, and with onset of the first neurological symptom within the first 24 months of age, will be eligible for the study.The study will recruit patients from 20 to 30 paediatric centres in Europe, North and South America and Australia.Idorsia Pharmaceuticals, Switzerland, is funding the research.
Summary of Results
Survival from retrospectively collected data from the last 20 years differed across Gaucher Disease Type 2 (GD2), GM1 Gangliosidosis, and GM2 Gangliosidosis. In patients with onset of neurological manifestations in the first 24 months of life, the median survival in GM2 (44 months) was more than 3 times longer than in GD2 (14 months) and more than double that in GM1 (19 months).
Overall (Groups A and B), the patients from this study could serve as a historical control for future clinical trials with a survival endpoint. Several variables from this study (e.g., age at time of insertion of permanent enteral support and age at onset of neurological manifestations) could potentially be used as covariates if patients from this study serve as a historical control.
REC name
North of Scotland Research Ethics Committee 2
REC reference
19/NS/0116
Date of REC Opinion
1 Jul 2019
REC opinion
Favourable Opinion