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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Prof
John
McGrath
john.mcgrath@kcl.ac.uk
Dr
Jacqueline
Simpson
Jaqueline.simpson@gstt.nhs.uk
Other congenital malformations
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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. 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,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
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.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
•Any inclusion criteria not met •Adult subjects that lack capacity to consent to take part in the study will be excluded from this research.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by King's College London and funded by NIHR Rare Diseases Translational Research Collaboration .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 17383
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
