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| 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 |
| 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 |
Inclusion Criteria:
Inclusion Criteria:
Contacts and Locations| 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 |
| Germany | |
| University Hospital Schleswig-Holstein | Recruiting |
| Kiel, Germany, 24105 | |
| Contact: Felix G Riepe, MD +49 431 597 ext 1622 friepe@pediatrics.uni-kiel.de | |
| 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
| 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 |
|
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 |
