Study of UK Adults With Congenital Adrenal Hyperplasia. (CaHASE)

Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia.

Congenital Adrenal Hyperplasia (CAH) is one of the commonest inherited diseases, affecting 1:14,200 live births. It is the result of a genetic defect in one of the enzymes (in most cases 21-hydroxylase) required for cortisol biosynthesis, leading to reduced levels of cortisol and aldosterone, increased ACTH concentrations and consequently increased adrenal androgen production. Patients suffer from problems with growth and development and as adults patients may have problems with fertility, virilisation in women, testicular masses in men and both men and women have an impaired quality of life. Patients have to take life-long therapy. Despite its frequency knowledge surrounding the management of adults with CAH remains fairly limited. There has been a lot of work describing the management of children with CAH but to date there is no consensus on how to manage adults. To address this issue a number of adult endocrinologists in the UK under the auspices of the Society for Endocrinology have established a country wide study (CaHASE) to undertake research in order to set standards of care for adult patients with CAH.

In CAH the severity of the symptoms experienced by affected individuals varies depending on the mutation and the genetic background of the individual. The ability to tailor CAH therapy on an individual basis, as determined by the severity of the underlying defect and an understanding of the likely natural history of the disease, is a key goal in clinical management. Correlation of phenotype (clinical status) and genotype (the underlying 21 hydroxylase gene mutation) will facilitate stratification of severity and provide an important contribution to the debate on potential mechanisms of individualised therapy. For instance it may become clear that certain CAH genotypes are associated with specific long term outcomes. In time, this could lead to suggesting different treatment strategies in certain groups. Moreover, genotype data are important if we are to address the relative contribution of environment (e.g. treatment) vs. genetics on long term outcomes.

This multi-centre study aims to:

  1. - Investigate the medical health of adults with congenital adrenal hyperplasia.
  2. - Investigate the relationship between the genotype of the patient and the phenotype.
  3. - Investigate the quality of life of adults with congenital adrenal hyperplasia.

Study Overview

Status

Completed

Study Type

Observational

Enrollment (Actual)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Sheffield, United Kingdom, S10 2JF
        • Sheffield Teaching Hospital NHS Foundation Trust

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 65 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

UK Adults with Congenital Adrenal Hyperplasia

Description

Inclusion Criteria:

  • Age over 18
  • Clinical and genetic diagnosis of congenital adrenal hyperplasia

Exclusion Criteria:

  • Pregnant females
  • Under 18

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
CaHASE 1
Adults with CAH

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
The anthropometric, metabolic, endocrine and quality of life variables of adults with congenital adrenal Hyperplasia will be compared to reference ranges for the normal population.
Time Frame: End of Study
End of Study

Secondary Outcome Measures

Outcome Measure
Time Frame
To identify areas where further research is required and to inform on the day to day management of adults with CAH
Time Frame: End of study
End of study

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Study Chair: Richard JM Ross, MD, Sheffield Teaching Hospitals NHS Foundation Trust

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2004

Primary Completion (Actual)

June 1, 2007

Study Completion (Actual)

December 1, 2011

Study Registration Dates

First Submitted

September 8, 2008

First Submitted That Met QC Criteria

September 8, 2008

First Posted (Estimate)

September 9, 2008

Study Record Updates

Last Update Posted (Estimate)

June 11, 2012

Last Update Submitted That Met QC Criteria

June 8, 2012

Last Verified

June 1, 2012

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Congenital Adrenal Hyperplasia

3
Subscribe