Natural History Study of Batten Disease - Version:1
Research type
Research Study
Full title
Natural History Study of Batten Disease
IRAS ID
290905
Contact name
Ruth E Williams
Contact email
Sponsor organisation
Amicus Therapeutics, Inc.
Clinicaltrials.gov Identifier
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
This is a multicentre, international, study collecting both retrospective and prospective natural history data from people with Batten disease to define clinical characteristics of select subtypes of Batten disease. These diseases are severe neurodegenerative disorders, with progressive degeneration of neuronal functions impacting cognition, vision, and motor abilities. There are limited data on the natural history of all Batten disease types. The natural history of Batten disease in patients with CLN6 or CLN3 variants is currently of most interest, as gene therapies for the diseases that result from these variants are currently in clinical development by Amicus. For CLN6 and CLN3 Batten diseases, there are no current approved therapies that can treat, cure, or delay the onset of disease. This study intends to characterise the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms and assess various factors which may influence these parameters (e.g., genotype). Data to be captured include motor function, speech/language, cognition, behaviour, seizures, sleep, vision/ophthalmologic examinations. Standard of care assessments (e.g. EEG, ECG, ECHO) results, and relevant laboratory parameters. As needed, genotyping, skin biopsy and Biobanking collection and analysis. These data are intended to create a historical control dataset for data being obtained in patients who have received an Amicus investigational gene therapy specific to their subtype of Batten disease. Patients will be recruited from specialised children’s hospitals - 75 participants for Cohort 1 (CLN6 Batten disease with the majority (> 60%) to have vLINCL6) and 120 participants for Cohort 2 (CLN3 Batten disease). Patients in the prospective part of the study will have a 10 year follow-up period.
REC name
Wales REC 4
REC reference
21/WA/0210
Date of REC Opinion
14 Jul 2021
REC opinion
Unfavourable Opinion