Trial record 1 of 3 for:    "Focal facial dermal dysplasia"
Previous Study | Return to List | Next Study

Study of Selected X-linked Disorders: Goltz Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2011 by Baylor College of Medicine
Sponsor:
Collaborators:
National Foundation for Ectodermal Dysplasias
March of Dimes
Information provided by:
Baylor College of Medicine
ClinicalTrials.gov Identifier:
NCT00691223
First received: June 3, 2008
Last updated: June 23, 2011
Last verified: June 2011
  Purpose

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.


Condition
Focal Dermal Hypoplasia (FDH)
Goltz Syndrome
X Linked Disorders

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders

Resource links provided by NLM:


Further study details as provided by Baylor College of Medicine:

Biospecimen Retention:   Samples With DNA

lymphoblast DNA; tissue


Estimated Enrollment: 300
Study Start Date: June 2007
Estimated Study Completion Date: January 2018
Groups/Cohorts
A.
Individuals with Goltz syndrome and their first degree relatives

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%. Ninety percent of individuals with FDH are female. Ninety-five 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00691223

Contacts
Contact: Ivonne Curiel, AA 713-798-5511 icuriel@bcm.edu
Contact: Ignatia B Van den Veyver, MD 713-798-4914 iveyver@bcm.edu

Locations
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Ignatia B Van den Veyver, MD    713-798-4914    iveyver@bcm.edu   
Contact: Tanya Eble, MS    713-873-2290    teble@bcm.edu   
Principal Investigator: Ignatia B Van den Veyver, MD         
Sponsors and Collaborators
Baylor College of Medicine
National Foundation for Ectodermal Dysplasias
March of Dimes
Investigators
Principal Investigator: Ignatia B Van den Veyver, MD Baylor College of Medicine
  More Information

Publications:
Responsible Party: Ignatia B. Van den Veyver, Principal Investigator, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT00691223     History of Changes
Other Study ID Numbers: BCM Goltz H21291
Study First Received: June 3, 2008
Last Updated: June 23, 2011
Health Authority: United States: Institutional Review Board

Keywords provided by Baylor College of Medicine:
Focal dermal hypoplasia
Goltz syndrome
X linked disorders
PORCN
Wnt signaling

Additional relevant MeSH terms:
Focal Dermal Hypoplasia
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Skin Diseases, Genetic
Skin Diseases

ClinicalTrials.gov processed this record on July 24, 2014