NCT00691223|Active Not Recruiting
Study of Selected X-linked Disorders: Goltz Syndrome
Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
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Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
Sponsor study identifier
observational
84
1 country
1
Study Start
June 2007
Actual (reported)Primary Completion
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 2007
Actual (reported)June 3, 2008
Actual (reported)June 5, 2008
Actual (reported)January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Identifying the change in the genetic information that causes Goltz syndrome.
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 (whose DNA sequence is in public databases), the outcome (finding the genetic cause of Goltz syndrome) will be achieved.
Through study completion - average 20 years (recruitment has currently ended)
Individuals with Goltz syndrome and their first degree relatives.
Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.
Baylor College of Medicine
Houston, Texas, 77030, United States
Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992 Aug;128(8):1108-11. No abstract available.
GOLTZ RW, PETERSON WC, GORLIN RJ, RAVITS HG. Focal dermal hypoplasia. Arch Dermatol. 1962 Dec;86:708-17. doi: 10.1001/archderm.1962.01590120006002. No abstract available.
Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):836-8. doi: 10.1038/ng2057. Epub 2007 Jun 3.
lymphoblast DNA; tissue
Ignatia B Van den Veyver, MD
Baylor College of Medicine
84 participants (actual enrollment reported by the registry).
First Submitted
June 3, 2008
First Posted
June 5, 2008
Study Start
June 2007
Actual (reported)Contact the study team to confirm eligibility.
Ross J, Busch J, Mintz E, Ng D, Stanley A, Brafman D, Sutton VR, Van den Veyver I, Willert K. A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11;9(5):1770-1780. doi: 10.1016/j.celrep.2014.10.049. Epub 2014 Nov 20.
Primary Completion
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
January 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
May 1, 2026
Record last verified: 2026-04
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