Focal Dermal Hypoplasia (FDH)NCT00691223
Study of Selected X-linked Disorders: Goltz Syndrome
An observational study of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome, run by Baylor College of Medicine at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Focal Dermal Hypoplasia (FDH), Goltz Syndrome
- How many people
- 84 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2007to Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.
Who may be able to join
- 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
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
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.
Read the 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.
We are not actively recruiting but study remains open for data analysis on existing data and samples.
- Conditions
- Focal Dermal Hypoplasia (FDH), Goltz Syndrome
- Keywords
- Focal dermal hypoplasia, Goltz syndrome, X linked disorders, PORCN, Wnt signaling
- Medical subject headings
- Focal Dermal Hypoplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Experimental | Individuals with Goltz syndrome and their first degree relatives. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completion - average 20 years (recruitment has currently ended)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2008 (estimated)
- Study startJun 2007
- Primary completionJan 2030 (estimated)
- Study completionJan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Focal Dermal Hypoplasia (FDH)Studies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 84 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ignatia Van den Veyver, Baylor College of Medicine
- Investigators
- Ignatia B Van den Veyver, MD, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00691223
- Sponsor's protocol ID
- BCM Goltz H21291
- Status last verified
- Apr 2026
- First submitted
- 3 Jun 2008
- Last updated
- 1 May 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: 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.
Publications
Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992 Aug;128(8):1108-11. No abstract available.
PubMed 1497368GOLTZ 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.
PubMed 13948891Wang 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.
PubMed 17546030Ross 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.
PubMed 25464842
Study at a glance
From the registry record, last updated by the sponsor on 1 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
- ClinicalTrials.gov ID
- NCT00691223
- Acronym / sponsor ID
- BCM Goltz H21291
- Conditions
- Focal Dermal Hypoplasia (FDH), Goltz Syndrome
- Keywords
- Focal dermal hypoplasia, Goltz syndrome, X linked disorders, PORCN, Wnt signaling
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 84 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Study start
- Jun 2007 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2030 (estimated)
- First posted
- 5 Jun 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
We are not actively recruiting but study remains open for data analysis on existing data and samples.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Experimental | – | –Individuals with Goltz syndrome and their first degree relatives. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.
Key inclusion criteria (5 listed)
- Features suggestive of Goltz syndrome (not all features must be present)
- Presence of a mutation in PORCN
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identifying the change in the genetic information that causes Goltz syndrome.
Time frame: Through study completion - average 20 years (recruitment has currently ended)
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 May 2026.
- Background: PubMed 1497368Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992 Aug;128(8):1108-11. No abstract available.
- Background: PubMed 13948891GOLTZ 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.
- Results publication: PubMed 17546030Wang 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.
- Results publication: PubMed 25464842Ross 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.
- Individual participant dataSharing planned: Undecided. 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ignatia B Van den Veyver, MD principal investigator
Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Focal Dermal Hypoplasia (FDH) and Goltz Syndrome, run by Baylor College of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 1 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identifying the change in the genetic information that causes Goltz syndrome. (time frame: Through study completion - average 20 years (recruitment has currently ended)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00691223, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 May 2026.