Registry for Patients with Niemann-Pick Type C Disease
Research type
Research Database
IRAS ID
186674
Contact name
Katell Hahnel
Contact email
Research summary
Registry for Patients with Niemann-Pick Type C Disease
REC name
London - South East Research Ethics Committee
REC reference
15/LO/1327
Date of REC Opinion
26 Oct 2015
REC opinion
Favourable Opinion
Data collection arrangements
At patient enrolment into the NPC Registry and at subsequent follow up visits, data collection will include the completion of a disability scale, current medication and non-drug therapies, status of disease characteristics such as seizures and tremor, status of muscle control, speech, co-ordination and swallowing, cognitive function, general and specific physical status, laboratory examinations and neuroimaging. At enrolment, minimal patient demography, diagnostic information and some medical history will also be recorded. Safety information will be collected for patients exposed to Zavesca® throughout their involvement in the registry.
A secure, internet based electronic data collection system (EDC) will be used for data entry and hosting. Data privacy is governed by UK and EU data protection laws and security measures are compliant with relevant US FDA regulations. Access to the registry will be restricted to authorised, trained individuals using a unique, combined user ID and password. The participating physician will obtain written informed consent from each patient (or legal representative) before their data is recorded in the EDC. Each centre will only have access to the data for those patients under their direct care. Patients will be identified only by a unique patient number, gender and date of birth.Research programme
NPC Disease is a very rare, inherited, lysosomal disorder. It is a life threatening condition which can affect infants, children and adults. Symptoms are highly variable but generally the patients develop learning difficulties, dementia and suffer severe, progressive neurological decline. Due to the lack of patient data, the disease course is not widely understood and consequently treatment is variable. The NPC Registry is part of a research programme agreed with the European Medicines Agency by the Sponsor. It has been established to collect prospective data from as many diagnosed NPC patients as possible undergoing routine clinical care, from enrolment to long-term follow up. As the first such database for NPC Disease, data analysis will generate valuable, clinical information on the course of the disease and the outcome of various treatment regimens. This should lead to the standardisation of treatment guidelines and more effective patient care. In addition, for patients treated with Zavesca®, the registry will ensure that prescribing advice related to patient safety is followed and monitored. Data analysis will be co-ordinated and assessed by an independent Scientific Committee. Findings will be freely available from publications, meetings and patient groups.
Research database title
Registry for Patients with Niemann-Pick Type C Disease
Establishment organisation
Actelion Pharmaceuticals Ltd
Establishment organisation address
Gewerbestrasse 16
Allschwil
Switzerland
CH-4123