Study of Selected X-linked Disorders: Goltz Syndrome
Running, not enrolling
Conditions studied: Focal Dermal Hypoplasia (FDH), Goltz Syndrome
In brief
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.
Key facts
- Study ID
- NCT00691223
- Run by
- Baylor College of Medicine
- People needed
- 84
- Starts
- 2007-06-01
- Expected to finish
- 2030-01-01
- Last updated by the study team
- 2026-05-01
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Features suggestive of Goltz syndrome (not all features must be present)
- Areas of hypoplastic skin
- Digital patterning defects
- Ocular and dental malformations
- Presence of a mutation in PORCN
You may not qualify if…
- None
Where it is running
- Baylor College of Medicine — Houston, Texas, United States
Full record on ClinicalTrials.gov
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