X Linked Hypohidrotic Ectodermal DysplasiaECP-014NCT01871714
Phenotypic Properties in Individuals Affected With XLHED
An observational study of X Linked Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
Trial summary
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED. Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- X Linked Hypohidrotic Ectodermal Dysplasia
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- May 2013to Sep 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
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 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: XLHED affected males and females and unaffected female controls
Who may be able to join
- Females of original gender of age 18-45 years who are registered and attending the 2013 NFED Family Conference. This will include those at risk for XLHED and controls
- XLHED-affected males of original gender of age 4 yrs and up who are registered and attending the 2013 NFED Family Conference
- Provide informed consent/assent
Who cannot join
- Subjects who are not able or are not willing to comply with the procedures of this protocol
- Subjects with any major medical problem that will prevent them from participating in this study
- Male subjects who participated in the prior study ECP-003 sponsored by Edimer Pharmaceuticals Inc. in May 2011 in San Francisco, CA
- Males at risk for XLHED with prior genetic testing that did not reveal an EDA mutation
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
Read the detailed description
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED. Facial 3-dimensional (3D) imaging will be created from white-field morphometric scanning (Hammond, 2004. The 3D facial photographs collected from males (ages 4 years and up) will be used to develop a non-invasive screening tool, which could enable detection of craniofacial signs of XLHED in the newborn period. 3D facial profiling has been reported to be effective in identifying HED (Dellavia et al., 2008), but the technology does not yet meet the ease-of-use criteria for a universal screening tool.
Standard 2-dimensional (2D) frontal and lateral facial photographs will be taken of the same XLHED-affected male subjects as well as of adult females (ages 18-45 yrs) at risk for being XLHED carriers and unaffected adult female controls. The 2D facial photographs will serve a dual purpose; the first being to beta-test a previously developed algorithm to identify males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.
- Keywords
- XLHED, HED, Hypohidrotic Ectodermal Dysplasia, X Linked Hypohidrotic Ectodermal Dysplasia
- Medical subject headings
- Ectodermal Dysplasia 1, Anhidrotic
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 |
|---|---|---|
| XLHED affected Males | All males ages 4 and up affected by XLHED | |
| Females affected by XLHED | Adult females (ages 18-45) affected by XLHED | |
| Unaffected females | Unaffected adult female controls (ages 18-45) |
What is being measured
The primary outcome is the main question the study is designed to answer.
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls using a medical questionnaire
Measured: Study day 1
To test and refine a computer algorithm for facial recognition of XLHED
To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs obtained from subjects at risk for XLHED and controls
Measured: Study day 1
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
Measured: Study day 1
To test for the presence of genetic mutations in subjects at risk for XLHED
To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis
Measured: Study day 1
To test the validity of a using saliva samples for genetic testing
To test the validity of a using saliva samples for genetic testing buy simultaneously perform genetic testing on blood and salvia and comparing the mutations identified
Measured: Study day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2013 (estimated)
- Study startMay 2013
- Primary completionJul 2013
- Study completionSep 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X Linked Hypohidrotic Ectodermal DysplasiaStudies of the same condition, open and under way.
- 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
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Dorothy K Grange, MD, Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01871714
- Sponsor's protocol ID
- ECP-014
- Acronym
- ECP-014
- Status last verified
- Nov 2013
- First submitted
- 3 Jun 2013
- Last updated
- 27 Nov 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Nov 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
- ClinicalTrials.gov ID
- NCT01871714
- Acronym / sponsor ID
- ECP-014 / ECP-014
- Keywords
- XLHED, HED, Hypohidrotic Ectodermal Dysplasia, X Linked Hypohidrotic Ectodermal Dysplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- May 2013
- Primary completion
- Jul 2013 (actual)
- Study completion
- Sep 2013 (actual)
- First posted
- 7 Jun 2013 (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.
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
Detailed description
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED. Facial 3-dimensional (3D) imaging will be created from white-field morphometric scanning (Hammond, 2004. The 3D facial photographs collected from males (ages 4 years and up) will be used to develop a non-invasive screening tool, which could enable detection of craniofacial signs of XLHED in the newborn period. 3D facial profiling has been reported to be effective in identifying HED (Dellavia et al., 2008), but the technology does not yet meet the ease-of-use criteria for a universal screening tool.
Standard 2-dimensional (2D) frontal and lateral facial photographs will be taken of the same XLHED-affected male subjects as well as of adult females (ages 18-45 yrs) at risk for being XLHED carriers and unaffected adult female controls. The 2D facial photographs will serve a dual purpose; the first being to beta-test a previously developed algorithm to identify males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.
Study design
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| XLHED affected Males | – | –All males ages 4 and up affected by XLHED |
| Females affected by XLHED | – | –Adult females (ages 18-45) affected by XLHED |
| Unaffected females | – | –Unaffected adult female controls (ages 18-45) |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- XLHED affected males and females and unaffected female controls
Key inclusion criteria (3 listed)
- Females of original gender of age 18-45 years who are registered and attending the 2013 NFED Family Conference. This will include those at risk for XLHED and controls
- XLHED-affected males of original gender of age 4 yrs and up who are registered and attending the 2013 NFED Family Conference
- Provide informed consent/assent
Key exclusion criteria (4 listed)
- Subjects who are not able or are not willing to comply with the procedures of this protocol
- Subjects with any major medical problem that will prevent them from participating in this study
- Male subjects who participated in the prior study ECP-003 sponsored by Edimer Pharmaceuticals Inc. in May 2011 in San Francisco, CA
- Males at risk for XLHED with prior genetic testing that did not reveal an EDA mutation
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
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
Time frame: Study day 1
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls using a medical questionnaire
To test and refine a computer algorithm for facial recognition of XLHED
Time frame: Study day 1
To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs obtained from subjects at risk for XLHED and controls
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
Time frame: Study day 1
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
To test for the presence of genetic mutations in subjects at risk for XLHED
Time frame: Study day 1
To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis
To test the validity of a using saliva samples for genetic testing
Time frame: Study day 1
To test the validity of a using saliva samples for genetic testing buy simultaneously perform genetic testing on blood and salvia and comparing the mutations identified
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Nov 2013.
- Sponsor websiteLink provided by the sponsor.
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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.
Dorothy K Grange, MD principal investigator
Washington University School 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 X Linked Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals 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 3 inclusion and 4 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: finished, as of the sponsor's last update on 27 Nov 2013. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls (time frame: Study day 1). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 27 Nov 2013.