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Study of Selected X-linked Disorders: Goltz Syndrome

NCT00691223 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 84

Last updated 2026-05-01

No results posted yet for this 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

  • Focal Dermal Hypoplasia (FDH)
  • Goltz Syndrome

Sponsors & Collaborators

  • Baylor College of Medicine

    lead OTHER

Principal Investigators

  • Ignatia B Van den Veyver, MD · Baylor College of Medicine

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-06-30
Primary Completion
2030-01-31
Completion
2030-01-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00691223 on ClinicalTrials.gov