Registry for Patients with Niemann-Pick Type C Disease (Scotland 2)

• Research type

  Research Database

• IRAS ID

  225503

• Research summary

  Registry for Patients with Niemann-Pick Type C Disease

• REC name

  Scotland A: Adults with Incapacity only

• REC reference

  17/SS/0050

• Date of REC Opinion

  6 Jun 2017

• REC opinion

  Favourable Opinion

• Data collection arrangements

  At patient enrolment into the NPC Registry and at subsequent follow up visits,data collection includes 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 is also recorded. Safety information is 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 is generating 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 ensures that prescribing advice related to patient safety is followed and monitored. Data analysis is co-ordinated and assessed by an Independent Scientific Committee. Findings are 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

  CH4123 Allschwil

  Switzerland

  CH4123