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Gene Polymorphisms Influencing Steroid Synthesis and Action
This study is currently recruiting participants.
Verified by University of Schleswig-Holstein, February 2009
First Received: June 8, 2007   Last Updated: February 17, 2009   History of Changes
Sponsor: University of Schleswig-Holstein
Information provided by: University of Schleswig-Holstein
ClinicalTrials.gov Identifier: NCT00485186
  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

Study Type: Observational
Study Design: Family-Based, 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:

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

Estimated Enrollment: 500
Study Start Date: June 2007
Estimated Study Completion Date: June 2017
Groups/Cohorts
1
2

  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

Contacts
Contact: Felix G Riepe, MD +49 431 597 ext 1622 friepe@pediatrics.uni-kiel.de
Contact: Paul-Martin Holterhus, MD +49 431 597 ext 1622 holterhus@pediatrics.uni-kiel.de

Locations
Germany
University Hospital Schleswig-Holstein Recruiting
Kiel, Germany, 24105
Contact: Felix G Riepe, MD     +49 431 597 ext 1622     friepe@pediatrics.uni-kiel.de    
Sponsors and Collaborators
University of Schleswig-Holstein
Investigators
Study Chair: Paul-Martin Holterhus, MD University Hospital Schleswig-Holstein - Kiel Campus
Principal Investigator: Felix G Riepe, MD University Hospital Schleswig-Holstein - Kiel Campus
  More Information

No publications provided

Responsible Party: University Hospital of Schleswig-Hostein ( Felix Riepe )
Study ID Numbers: D429/05
Study First Received: June 8, 2007
Last Updated: February 17, 2009
ClinicalTrials.gov Identifier: NCT00485186     History of Changes
Health Authority: Germany: Federal Institute for Drugs and Medical Devices

Additional relevant MeSH terms:
Adrenal Insufficiency
Metabolic Diseases
Disease
Autoimmune Diseases
Immune System Diseases
Gonadal Disorders
Adrenogenital Syndrome
Adrenal Gland Diseases
Endocrine System Diseases
Sex Differentiation Disorders
Adrenocortical Hyperfunction
Metabolism, Inborn Errors
Hyperplasia
Pathologic Processes
Genetic Diseases, Inborn
Addison Disease
Adrenal Hyperplasia, Congenital
Steroid Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on November 05, 2009