Trial record 14 of 50 for:    "21-hydroxylase deficiency"

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

This study has been completed.
Sponsor:
Collaborators:
Society for Endocrinology
The Clinical Endocrinology Trust
Information provided by (Responsible Party):
Sheffield Teaching Hospitals NHS Foundation Trust
ClinicalTrials.gov Identifier:
NCT00749593
First received: September 8, 2008
Last updated: June 8, 2012
Last verified: June 2012
  Purpose

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.

Condition
Congenital Adrenal Hyperplasia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia.

Resource links provided by NLM:


Further study details as provided by Sheffield Teaching Hospitals NHS Foundation Trust:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Enrollment: 25
Study Start Date: August 2004
Study Completion Date: December 2011
Primary Completion Date: June 2007 (Final data collection date for primary outcome measure)
Groups/Cohorts
CaHASE 1
Adults with CAH

  Eligibility

Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

UK Adults with Congenital Adrenal Hyperplasia

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Pregnant females
  • Under 18
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00749593

Locations
United Kingdom
Sheffield Teaching Hospital NHS Foundation Trust
Sheffield, United Kingdom, S10 2JF
Sponsors and Collaborators
Sheffield Teaching Hospitals NHS Foundation Trust
Society for Endocrinology
The Clinical Endocrinology Trust
Investigators
Study Chair: Richard JM Ross, MD Sheffield Teaching Hospital NHS Foundation Trust
  More Information

Additional Information:
No publications provided by Sheffield Teaching Hospitals NHS Foundation Trust

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Sheffield Teaching Hospitals NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT00749593     History of Changes
Other Study ID Numbers: CaHASE STH13503, MREC 04/07/013
Study First Received: September 8, 2008
Last Updated: June 8, 2012
Health Authority: United Kingdom: Research Ethics Committee

Keywords provided by Sheffield Teaching Hospitals NHS Foundation Trust:
Congenital Adrenal Hyperplasia
Quality of Life
Genotype
Metabolic outcomes

Additional relevant MeSH terms:
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Hyperplasia
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders
Pathologic Processes

ClinicalTrials.gov processed this record on April 23, 2014