Gene Polymorphisms Influencing Steroid Synthesis and Action | NCT00485186

Studies
Gene Polymorphisms Influencing Steroid Synthesis and Action

NCT00485186

Sponsor

University Hospital Schleswig-Holstein

Status

Withdrawn

Last Update Posted

Sep 5, 2013Estimated

Enrollment

0Actual

Phase

Not provided

Conditions

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

Interventions

Not provided

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2013

Overall Recruitment Status or Expanded Access Status

Withdrawn

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2007

Primary Completion Date

Jun 2013Actual

Completion Date

Jun 2013Actual

First Submitted Date

Jun 8, 2007

First Submission Date that Met QC Criteria

Jun 8, 2007

First Posted Date

Jun 12, 2007Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 4, 2013

Last Update Posted Date

Sep 5, 2013Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

0Actual

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Inclusion Criteria:

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Paul-Martin Holterhus, MD	University Hospital Schleswig-Holstein	Study Chair
Felix G Riepe, MD	University Hospital Schleswig-Holstein	Principal Investigator

Locations

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D012734	Disorders of Sex Development
D000312	Adrenal Hyperplasia, Congenital
D000075262	Hypoadrenocorticism, Familial
D000309	Adrenal Insufficiency
D050090	Ovotesticular Disorders of Sex Development

Ancestor Terms

ID	Term
D014564	Urogenital Abnormalities
D052776	Female Urogenital Diseases
D005261	Female Urogenital Diseases and Pregnancy Complications
D000091642	Urogenital Diseases

Browse Leaves

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Browse Branches

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