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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: Active study of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome, sponsored by Baylor College of Medicine.
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. According to ClinicalTrials.gov, the official US trial registry.
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.
Primary Outcome
The investigators isolate genetic material from samples of individuals with Goltz syndrome and their parents (if available). DNA sequencing and other molecular methods along with bioinformatic analysis is used to find genetic variants (changes) in the genetic code unique to individuals with Goltz syndrome, not seen in healthy population. When a gene that shows variants that are deleterious to its function is identified in at least 3 unrelated Goltz syndrome individuals but not in healthy people
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 |
What the registry record for NCT00691223 still lists
NCT00691223 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 84 participants, a relatively small participant target.
The record links to 2 conditions, with Focal Dermal Hypoplasia (FDH) appearing as the primary indexed condition, and to 0 interventions.
NCT00691223 reports a single indexed study location in 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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