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Study of Selected X-linked Disorders: Goltz Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00691223
Recruitment Status : Active, not recruiting
First Posted : June 5, 2008
Last Update Posted : February 24, 2020
Information provided by (Responsible Party):
Ignatia Van den Veyver, Baylor College of Medicine

Tracking Information
First Submitted Date June 3, 2008
First Posted Date June 5, 2008
Last Update Posted Date February 24, 2020
Actual Study Start Date June 2007
Estimated Primary Completion Date January 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Study of Selected X-linked Disorders: Goltz Syndrome
Official Title Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
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 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.
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 herniation of fat through dermal defects), digital patterning defects (syndactyly, polydactyly, camptodactyly, absence deformities), ocular and dental malformations, mild dysmorphism. Variable other defects include a pointed chin, hypoplastic ears, nasal deformities, short stature, papillomas of lips, gingival and larynx, dystrophic nails, sparse brittle hair. Mental retardation occurs in approximately 15%. 90% of individuals with FDH are female. 95% percent of all cases and 100% of male cases appear de novo.

Using array-based comparative hybridization (array-CGH) a deletion was initially identified in PORCN in two girls with FDH. Sequencing of genes in this region has resulted in the identification of mutations in PORCN in >75% of other individuals affected with FDH. A manuscript describing these mutations was published in Nature Genetics (Wang, 2007). PORCN encodes the human homolog of the Drosophila porcupine protein and has been found in drosophila and mouse studies to be a key regulator of Wnt-protein signaling. We believe that the PORCN mutation may cause FDH by affecting Wnt signaling, but this has yet to be proven.

For this study we are collecting information on patients with clinical findings suggestive of FDH or with known PORCN mutations. A detailed family history will be obtained when indicated, and additional family members will be evaluated afer appropriately obtained written voluntary consent. A detailed report of the history or physical findings will be obtained from referring physicians for patients identified at outside facilities or the participants may be evaluated by the study collaborators. Blood will be obtained from affected individuals unaffected parents and from other affected or unaffected family members where indicated. Occasionally, affected individuals may undergo surgical procedures with removal of tissues; in this case we may obtain tissues that would be otherwise discarded or that are not essential for further diagnostic studies or clinical care of the patient. It is anticipated that these specimens will be extremely valuable for understanding the pathogenesis of the investigated conditions. DNA, RNA or protein will be prepared from leukocytes and from tissues and used for mutation analysis and other molecular studies of the identified genes. Permanent lymphoblastoid cell lines will be prepared and stored in the laboratory as a permanent source of DNA for the molecular studies.

Study Type Observational
Study Design Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
lymphoblast DNA; tissue
Sampling Method Non-Probability Sample
Study Population Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.
  • Focal Dermal Hypoplasia (FDH)
  • Goltz Syndrome
Intervention Not Provided
Study Groups/Cohorts Experimental
Individuals with Goltz syndrome and their first degree relatives.
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Active, not recruiting
Actual Enrollment
 (submitted: January 7, 2018)
Original Estimated Enrollment
 (submitted: June 4, 2008)
Estimated Study Completion Date January 2025
Estimated Primary Completion Date January 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • 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 Criteria:

  • None
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00691223
Other Study ID Numbers BCM Goltz H21291
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: Deidentified patient data will be published following peer review in journals and/or presented at scientific meetings.
Responsible Party Ignatia Van den Veyver, Baylor College of Medicine
Study Sponsor Baylor College of Medicine
Collaborators Not Provided
Principal Investigator: Ignatia B Van den Veyver, MD Baylor College of Medicine
PRS Account Baylor College of Medicine
Verification Date February 2020