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NCT00485186 Clinical Trial

Gene Polymorphisms Influencing Steroid Synthesis and Action

Adrenal Insufficiency Clinical Trial

Official title:
Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development

Clinical Trial Details — Status: Withdrawn

Administrative data
NCT number NCT00485186
Other study ID # D429/05
Secondary ID
Status Withdrawn
Phase N/A
First received June 8, 2007
Last updated September 4, 2013
Start date June 2007
Est. completion date June 2013

Study information
Verified date September 2013
Source University of Schleswig-Holstein
Contact n/a
Is FDA regulated No
Health authority Germany: Federal Institute for Drugs and Medical Devices
Study type Observational

Clinical Trial Summary

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.

Recruitment information / eligibility
Status Withdrawn
Enrollment 0
Est. completion date June 2013
Est. primary completion date June 2013
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group N/A and older
Eligibility Inclusion Criteria:

- Disorders of Sex Development

- Congenital Adrenal Hyperplasia

- Congenital Adrenal Hypoplasia

- Adrenal Insufficiency

- Mineralocorticoid Deficiency

- Salt-loss

Study Design

Observational Model: Family-Based, Time Perspective: Prospective

Related Conditions & MeSH terms

Locations
Country Name City State
n/a

Sponsors (1)
Lead Sponsor Collaborator
University of Schleswig-Holstein
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