Genotype-phenotype correlation in ARCI
Research type
Research Study
Full title
Genotype-phenotype correlation in autosomal recessive congenital ichthyosis
IRAS ID
148669
Contact name
John McGrath
Contact email
Sponsor organisation
King's College London
Research summary
Background
Ichthyosis is a heterogeneous family of skin disorders characterised by dry, thickened, scaly/ flaky skin. Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare forms of inherited ichthyosis. The management of ARCI is challenging. They often start as a similar red scaly skin and evolve into different appearances. The prognosis is highly variable – some forms may improve spontaneously whereas others may be life threatening. Being able to determine prognosis and the disease journey for individuals would be helpful in defining optimal personalised care, appropriateness of certain therapies, the need for multidisciplinary care and molecular stratification for clinical trials. This study aims to find the relationship between the genetic mutations associated with ARCI and the observable characteristics and traits of patients with ARCI.Methods
This is a NIHR Rare Disease (Skin) Theme funded study taking place in multiple NHS Trusts across the UK. Site researchers will identify potential participants from living and deceased patients under their care. Site researchers will recruit and consent living participants. Participants will be clinically examined by site researchers. Clinical information directly relevant to participants’ ARCI diagnosis will be retrospectively collected from their hospital notes as well as prospectively collected over a 10-year period to enable determination of disease course. Living participants may be requested to donate a blood, skin, hair and DNA sample. Blood samples will be analysed for its biochemical contents. Skin and hair samples may be examined under microscopes. Gene mutation analysis will be performed on the DNA samples. Parents/relatives of living participants will also be invited to donate a DNA sample as this will facilitate mutation analysis of participants’ DNA. All data collected will be anonymised, used for the purpose of this study only, and analysed by the coordinating site/Chief Investigator adhering to strict national standards of privacy, security and confidentiality.REC name
West Midlands - Solihull Research Ethics Committee
REC reference
14/WM/1092
Date of REC Opinion
3 Sep 2014
REC opinion
Further Information Favourable Opinion