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NCT00691223 · ClinicalTrials.gov registry record
Study of Selected X-linked Disorders: Goltz Syndrome
A clinical trial of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome, sponsored by Baylor College of Medicine.
- Active
- Registry status
- 84
- Enrollment target
- 1
- Study location
NCT00691223 is a study of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome that is active but no longer recruiting, run by Baylor College of Medicine. The registered enrollment target is 84 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00691223, a study of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome, is active but no longer recruiting, sponsored by Baylor College of Medicine.
- ACTIVE NOT RECRUITING
- Registry status
- 84 participants
- Enrollment target
- 1
- Study location
Study Summary
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome. This neurodevelopmental disorder is characterized by birth defects of the skin, skeleton, eyes, and in some cases other organs. Our team is working to obtain a better understanding of how mutations in PORCN lead to the clinical features of Goltz syndrome. We are also trying to identify the genetic change in those patients where no mutations in PORCN have been found. We are also investigating conditions with phenotypes similar to Goltz syndrome to determine if they also have mutations in PORCN. We are collecting blood samples from patients and their parents. DNA from these samples is isolated and then used for genetic testing. We also review medical records to compare clinical symptoms with the detected mutations to determine if there is a correlation.
Conditions Studied
Study Locations (1)
Texas
- Baylor College of Medicine - Houston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 84 participants |
| Start Date | 2007-06 |
| Est. Completion | 2030-01 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00691223
The ClinicalTrials.gov registry entry for NCT00691223 describes a study currently listed as active not recruiting, categorized as an unspecified phase. The registered enrollment target is 84 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Baylor College of Medicine, which has 616 total studies on file at ClinicalTrials.gov.
The record links to 2 conditions, with Focal Dermal Hypoplasia (FDH) appearing as the primary indexed condition, and to 0 interventions.
NCT00691223 reports 1 study location spanning 1 distinct geographic area - top geographies include Texas.
Frequently Asked Questions
What is clinical trial NCT00691223 about?
NCT00691223 is a clinical study titled "Study of Selected X-linked Disorders: Goltz Syndrome". Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome. This neurodevelopmental disorder is characterized by birth defects of the skin, skeleton, eyes, and in some cases other organs. Our team is working to obtain a better...
What is the current status of trial NCT00691223?
This trial is currently active not recruiting. The enrollment target is 84 participants. The study started on 2007-06. Estimated completion is 2030-01.
What conditions does trial NCT00691223 study?
This clinical trial studies the following conditions: Focal Dermal Hypoplasia (FDH), Goltz Syndrome.
Who is sponsoring clinical trial NCT00691223?
This trial is sponsored by Baylor College of Medicine, which has 616 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00691223 being conducted?
This trial has 1 study location across Texas. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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