Gene Polymorphisms Influencing Steroid Synthesis and Action - Full Text View

Sponsored by:	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	Intervention
Disorders of Sex Development Congenital Adrenal Hyperplasia Congenital Adrenal Hypoplasia Adrenal Insufficiency Mineralocorticoid Deficiency	Procedure: blood drawing

Genetics Home Reference related topics: 21-hydroxylase deficiency X-linked adrenal hypoplasia congenita X-linked adrenoleukodystrophy

MedlinePlus related topics: Addison's Disease

U.S. FDA Resources

Study Type:	Observational
Study Design:	Natural History, Cross-Sectional, Defined Population, Retrospective Study
Official Title:	Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development

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

Estimated Enrollment:	200
Study Start Date:	June 2007
Estimated Study Completion Date:	June 2017

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

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

Study ID Numbers:	D429/05
Study First Received:	June 8, 2007
Last Updated:	June 8, 2007
ClinicalTrials.gov Identifier:	NCT00485186
Health Authority:	Germany: Federal Institute for Drugs and Medical Devices

Study placed in the following topic categories:

Addison's disease
Adrenal Insufficiency
Autoimmune Diseases
Metabolic Diseases
Gonadal Disorders
Adrenogenital Syndrome
Adrenal Gland Diseases
Endocrine System Diseases
X-linked adrenal hypoplasia congenita
Hypoadrenalism
Sex Differentiation Disorders
Adrenocortical Hyperfunction

Adrenal gland hypofunction
Metabolism, Inborn Errors
Adrenal hyperplasia
Hyperplasia
Genetic Diseases, Inborn
Adrenoleukodystrophy
Addison Disease
Adrenal Hyperplasia, Congenital
Endocrinopathy
Metabolic disorder
X-linked adrenoleukodystrophy

Additional relevant MeSH terms:

Pathologic Processes
Disease
Immune System Diseases
Steroid Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on January 16, 2009