Niemann Pick Type C patient finder
Research type
Research Study
Full title
Niemann-Pick Type C (NP-C) Patient Finder Initiative: Can Hospital Episode Statistics (HES) data be used to identify complex clinical syndromes and diagnose a rare disease?
IRAS ID
171051
Contact name
Robin Lachmann
Contact email
Duration of Study in the UK
0 years, 7 months, 31 days
Research summary
In England, Hospital Episode Statistics (HES)data applies an ICD-10 code to each clinical symptom and procedure a patient experiences while attending a hospital, as either an inpatient or outpatient. Niemann-Pick C is an ultra rare metabolic disease with multiple clinical symptoms. This disease is often not diagnosed due to the diverse phenotype and variable age of onset. This study will evaluate if using combinations of HES ICD-10 codes linked to specific symptoms seen in NP-C, can identify patients who may have this disease. Having identified a patient who could potentially have NP-C, the treating physician will be contacted with a letter from the Principal Investigator. This will inform them about the study, tell them that we have identified a patient who might have NP-C, give them the HES patient identifier and suggest how they might confirm the diagnosis if they wish to.
REC name
London - Brent Research Ethics Committee
REC reference
15/LO/1773
Date of REC Opinion
5 Nov 2015
REC opinion
Favourable Opinion