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This study has been withdrawn prior to enrollment.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

History of Changes

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:

Genetics Home Reference related topics: 17 alpha-hydroxylase/17,20-lyase deficiency 21-hydroxylase deficiency 3-beta-hydroxysteroid dehydrogenase deficiency X-linked adrenal hypoplasia congenita autoimmune Addison disease congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency familial glucocorticoid deficiency persistent Müllerian duct syndrome

MedlinePlus related topics: Genes and Gene Therapy

Genetic and Rare Diseases Information Center resources: Hypoadrenalism 21-hydroxylase Deficiency Congenital Adrenal Hyperplasia Addison's Disease X-linked Adrenal Hypoplasia Congenita

U.S. FDA Resources

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)

Groups/Cohorts
1
2

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
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

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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


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 Hyperplasia Adrenal Insufficiency Adrenal Hyperplasia, Congenital Adrenogenital Syndrome Disorders of Sex Development Genetic Diseases, X-Linked Pathologic Processes Adrenal Gland Diseases Endocrine System Diseases	Urogenital Abnormalities Congenital Abnormalities Genetic Diseases, Inborn Steroid Metabolism, Inborn Errors Metabolism, Inborn Errors Metabolic Diseases Gonadal Disorders Autoimmune Diseases Immune System Diseases

ClinicalTrials.gov processed this record on September 23, 2016

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