Status:
ACTIVE_NOT_RECRUITING
Study of Selected X-linked Disorders: Goltz Syndrome
Lead Sponsor:
Baylor College of Medicine
Conditions:
Focal Dermal Hypoplasia (FDH)
Goltz Syndrome
Eligibility:
All Genders
Brief 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...
Detailed Description
Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and her...
Eligibility Criteria
Inclusion
- 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
Exclusion
- None
Key Trial Info
Start Date :
June 1 2007
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 1 2030
Estimated Enrollment :
84 Patients enrolled
Trial Details
Trial ID
NCT00691223
Start Date
June 1 2007
End Date
January 1 2030
Last Update
August 16 2024
Active Locations (1)
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1
Baylor College of Medicine
Houston, Texas, United States, 77030