Study of Selected X-linked Disorders: Goltz Syndrome
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ClinicalTrials.gov Identifier: NCT00691223 |
Recruitment Status :
Active, not recruiting
First Posted : June 5, 2008
Last Update Posted : March 9, 2022
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Condition or disease |
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Focal Dermal Hypoplasia (FDH) Goltz Syndrome |
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.
We are not actively recruiting but study remains open for data analysis on existing data and samples.
Study Type : | Observational |
Actual Enrollment : | 84 participants |
Observational Model: | Other |
Time Perspective: | Prospective |
Official Title: | Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders |
Actual Study Start Date : | June 2007 |
Estimated Primary Completion Date : | January 2025 |
Estimated Study Completion Date : | January 2025 |

Group/Cohort |
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Experimental
Individuals with Goltz syndrome and their first degree relatives.
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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
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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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00691223
United States, Texas | |
Baylor College of Medicine | |
Houston, Texas, United States, 77030 |
Principal Investigator: | Ignatia B Van den Veyver, MD | Baylor College of Medicine |
Other Publications:
Responsible Party: | Ignatia Van den Veyver, Professor, Baylor College of Medicine |
ClinicalTrials.gov Identifier: | NCT00691223 |
Other Study ID Numbers: |
BCM Goltz H21291 |
First Posted: | June 5, 2008 Key Record Dates |
Last Update Posted: | March 9, 2022 |
Last Verified: | February 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Plan Description: | Deidentified patient data may be published following peer review in journals and/or presented at scientific meetings. There is currently no new recruitment or immediate publication plan. |
Focal dermal hypoplasia Goltz syndrome X linked disorders PORCN Wnt signaling |
Focal Dermal Hypoplasia Syndrome Disease Pathologic Processes 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 |