Disorders of Sex DevelopmentNCT00485186
Gene Polymorphisms Influencing Steroid Synthesis and Action
An observational study of Disorders of Sex Development and Congenital Adrenal Hyperplasia, run by University Hospital Schleswig-Holstein.
Trial 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). Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Disorders of Sex Development, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- Jun 2007to Jun 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Inclusion Criteria: * Disorders of Sex Development * Congenital Adrenal Hyperplasia * Congenital Adrenal Hypoplasia * Adrenal Insufficiency * Mineralocorticoid Deficiency * Salt-loss
Who may be able to join
- Disorders of Sex Development
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hypoplasia
- Adrenal Insufficiency
- Mineralocorticoid Deficiency
- Salt-loss
Who cannot join
None listed.
About this study
Official title: Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development
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.
- Conditions
- Disorders of Sex Development, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Adrenal Insufficiency, Mineralocorticoid Deficiency, Intersex
- Medical subject headings
- Disorders of Sex Development, Adrenal Hyperplasia, Congenital, Hypoadrenocorticism, Familial, Adrenal Insufficiency, Ovotesticular Disorders of Sex Development
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Not described | |
| 2 | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2007 (estimated)
- Study startJun 2007
- Primary completionJun 2013
- Study completionJun 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Disorders of Sex DevelopmentStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Schleswig-Holstein
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Felix Riepe, University Hospital Schleswig-Holstein
- Investigators
- Paul-Martin Holterhus, MD, Study chair, University Hospital Schleswig-HolsteinFelix G Riepe, MD, Principal investigator, University Hospital Schleswig-Holstein
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00485186
- Sponsor's protocol ID
- D429/05
- Status last verified
- Sep 2013
- First submitted
- 8 Jun 2007
- Last updated
- 5 Sep 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development
- ClinicalTrials.gov ID
- NCT00485186
- Acronym / sponsor ID
- D429/05
- Conditions
- Disorders of Sex Development, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Adrenal Insufficiency, Mineralocorticoid Deficiency, Intersex
- Study type
- Observational
- Recruitment status
- Withdrawn
- Enrolment
- 0 participants (actual)
- Lead sponsor
- University Hospital Schleswig-HolsteinUniversity, hospital or other
- Study start
- Jun 2007
- Primary completion
- Jun 2013 (actual)
- Study completion
- Jun 2013 (actual)
- First posted
- 12 Jun 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | – |
| 2 | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Inclusion Criteria: * Disorders of Sex Development * Congenital Adrenal Hyperplasia * Congenital Adrenal Hypoplasia * Adrenal Insufficiency * Mineralocorticoid Deficiency * Salt-loss
Key inclusion criteria (6 listed)
- Disorders of Sex Development
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hypoplasia
- Adrenal Insufficiency
- Mineralocorticoid Deficiency
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Paul-Martin Holterhus, MD study chair
University Hospital Schleswig-Holstein
Felix G Riepe, MD principal investigator
University Hospital Schleswig-Holstein
Questions about this trial
What is this clinical trial studying?
An observational study of Disorders of Sex Development and Congenital Adrenal Hyperplasia, run by University Hospital Schleswig-Holstein.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 5 Sep 2013. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Sep 2013.