CAH Adult Study Executive

Background

Congenital Adrenal Hyperplasia (CAH), one of the most common inherited diseases, affects 1:14,200 live births. It is the result of a genetic defect in one of the enzymes (typically 21-hydroxylase) required for cortisol biosynthesis, leading to reduced levels of cortisol and aldosterone, increased ACTH concentrations and consequently increased adrenal androgen production.

An audit of adults with CAH in the UK conducted by the Society for Endocrinology revealed a lack of a consensus on the best treatment for adults with CAH (Ross RJM, UK Audit of Adult Congenital Adrenal Hyperplasia Care. J. Endocrinol 164 suppl: S38). CAH has therefore been identified as an area that requires further research into the day-to-day management of adults with CAH.

The Society for Endocrinology, with a grant from the Clinical Endocrinology Trust, set up CaHASE in 2003 under the chairmanship of Prof Richard JM Ross (Sheffield). It specifically looks at congenital adrenal hyperplasia in adulthood. Seventeen specialist endocrinology centres around the UK are currently collaborating in CaHASE, a multi-centre prospective research study. By working together the 17 centres aim to study a large number of patients to obtain much needed information on the effect of CAH in adults.

Aim

  1. To identify the medical, psychological and physical problems experienced by patients with CAH.
  2. To identify areas of patient care where there is currently consensus or disagreement.
  3. To identify gaps in current knowledge where further research is needed.
  4. To publish a peer-reviewed paper containing a comprehensive review of the points above.

Protocol

Patients

The inclusion criteria for the study are adults (age range 18-65) with all types of CAH (classical/non-classical, salt-wasting/non-salt-wasting and all genotypes). Patients are approached by their clinician at their routine clinic appointment to see if they would like to take part in the study.

Methods

A case record form and self-administered quality of life questionnaires are completed for each patient with CAH who consents to take part in the study. Blood samples for genetic analysis and hormone profile are also taken. In order to obtain information on the causes of morbidity in patients with CAH, participants in the study are flagged with the NHS information centre in England (England and Wales) and Information & Statistics Division (Scotland).

Ethics

The study has MREC approval (MREC 04/07/013) and is conducted in accordance with UK legislation on data protection, ethics and written informed patient consent.

CaHASE is registered with ClinicalTrials.gov, please see http://clinicaltrials.gov/ct2/show/NCT00749593?term=CAH&rank=5

Governance

CaHASE is a collaborative research project overseen by a Project Board made up of representatives from the participating centres under the auspices of the Clinical Committee of the Society for Endocrinology. The board is chaired by Professor R J M Ross. The board is reviewed on an annual basis by the Clinical Committee.

The Project Board meet at least once a year and is responsible for setting the project targets and monitoring outcomes. It is responsible for raising any necessary funds and for monitoring and approving expenditure.

All principal investigators should be members of the Society for Endocrinology.

Ownership of data

The data will be owned by the Society for Endocrinology.

Support

Clinical Endocrinology TrustThe Society is grateful to the Clinical Endocrinology Trust for their continued financial support.

 

Impact of project

Impact of Project (pdf) (133kb)

Publications

Further information

Further information on the project is available from the Project Manager Dr Debbie Willis, and the following articles: -