Gene Polymorphisms Influencing Steroid Synthesis and Action

This study has been withdrawn prior to enrollment.
Sponsor:
Information provided by (Responsible Party):
Felix Riepe, University of Schleswig-Holstein
ClinicalTrials.gov Identifier:
NCT00485186
First received: June 8, 2007
Last updated: September 4, 2013
Last verified: September 2013
  Purpose

The extend of steroid biosynthesis and action is mainly dependent on underlying genetic polymorphisms and gene mutations. These sequence variations in multiple genes involved in steroid biosynthesis and action cause different diseases (for example congenital adrenal hyperplasia or disorders of sex development). In addition, sequence variations in several other genes may influence the severity of a genetically caused disease of steroid biosynthesis or action. By this, the differences in an observed phenotype may be explained. Within the study all genes necessary for adrenal and gonadal steroid biosynthesis and several genes which are known to influence the action of steroid hormones will be analysed in patients with congenital disorders of adrenal and gonadal steroid biosynthesis, disorders of steroid action and disorders of sex development. The primary aim is to set up a correlation of the disease phenotype with the different genotypes detected.


Condition
Disorders of Sex Development
Congenital Adrenal Hyperplasia
Congenital Adrenal Hypoplasia
Adrenal Insufficiency
Mineralocorticoid Deficiency
Intersex

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development

Resource links provided by NLM:


Further study details as provided by University of Schleswig-Holstein:

Enrollment: 0
Study Start Date: June 2007
Study Completion Date: June 2013
Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Inclusion Criteria:

  • Disorders of Sex Development
  • Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hypoplasia
  • Adrenal Insufficiency
  • Mineralocorticoid Deficiency
  • Salt-loss
Criteria

Inclusion Criteria:

  • Disorders of Sex Development
  • Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hypoplasia
  • Adrenal Insufficiency
  • Mineralocorticoid Deficiency
  • Salt-loss
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00485186

Sponsors and Collaborators
University of Schleswig-Holstein
Investigators
Study Chair: Paul-Martin Holterhus, MD University of Schleswig-Holstein
Principal Investigator: Felix G Riepe, MD University of Schleswig-Holstein
  More Information

No publications provided

Responsible Party: Felix Riepe, Prof. Dr., University of Schleswig-Holstein
ClinicalTrials.gov Identifier: NCT00485186     History of Changes
Other Study ID Numbers: D429/05
Study First Received: June 8, 2007
Last Updated: September 4, 2013
Health Authority: Germany: Federal Institute for Drugs and Medical Devices

Additional relevant MeSH terms:
Addison Disease
Adrenal Insufficiency
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Hyperplasia
Disorders of Sex Development
Genetic Diseases, X-Linked
Adrenal Gland Diseases
Endocrine System Diseases
Autoimmune Diseases
Immune System Diseases
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Gonadal Disorders
Pathologic Processes
Sexual and Gender Disorders
Mental Disorders

ClinicalTrials.gov processed this record on April 14, 2014