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Gene Polymorphisms Influencing Steroid Synthesis and Action

NCT ID: NCT00485186

Last Updated: 2013-09-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

WITHDRAWN

Study Classification

OBSERVATIONAL

Study Start Date

2007-06-30

Study Completion Date

2013-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Disorders of Sex Development Congenital Adrenal Hyperplasia Congenital Adrenal Hypoplasia Adrenal Insufficiency Mineralocorticoid Deficiency Intersex

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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1

No interventions assigned to this group

2

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Disorders of Sex Development
* Congenital Adrenal Hyperplasia
* Congenital Adrenal Hypoplasia
* Adrenal Insufficiency
* Mineralocorticoid Deficiency
* Salt-loss
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital Schleswig-Holstein

OTHER

Sponsor Role lead

Responsible Party

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Felix Riepe

Prof. Dr.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Paul-Martin Holterhus, MD

Role: STUDY_CHAIR

University Hospital Schleswig-Holstein

Felix G Riepe, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Schleswig-Holstein

Countries

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Germany

Other Identifiers

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D429/05

Identifier Type: -

Identifier Source: org_study_id