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Gene Polymorphisms Influencing Steroid Synthesis and Action
This study has been withdrawn prior to enrollment.
Sponsor:
University of Schleswig-Holstein
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
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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
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:
Addison's Disease
Hypoadrenalism
21-hydroxylase Deficiency
Congenital Adrenal Hyperplasia
X-linked Adrenal Hypoplasia Congenita
U.S. FDA Resources
Further study details as provided by Felix Riepe, 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 |
| Sexes Eligible for Study: | All |
| 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
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00485186
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 |
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 July 21, 2017