X-linked Hypohidrotic Ectodermal DysplasiaECP-013NCT01629940
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
An observational study of X-linked Hypohidrotic Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
Trial summary
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm… Read more about this study
- Who is it for?
- Any age, men onlyHealthy volunteers can take part
- Conditions the study is for
- X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
- How many people
- 36 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2012to Oct 2012
- 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 Any age
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: This study is being conducted among family members attending the 2012 National Foundation for Ectodermal Dysplasia (NFED) Family Conference, July 19-21, 2012, in Orlando, FL.
Who may be able to join
- Males of any age who are registered and attending the 2012 NFED Family Conference;
- Conform to one of the following requirements for providing informed consent/assent:
- if more than 18 years of age, subjects must provide signed informed consent;
- if less than 18 years of age and it is determined that the subject is capable of providing assent, both the assent of the subject and consent of the parent(s) or guardian of that subject must be granted. Under this condition, both parents of the subject should give their permission, unless 1 parent is deceased, unknown, incompetent, or not available;
- if the subject is incapable of providing assent, the consent of the parent(s) or guardian of the subject must be granted. Under this condition, both parents should give their consent, unless 1 parent is deceased, unknown, incompetent, or not available.
- As described in Section 3.2 above, subjects must meet one of the following criteria:
- Male subjects of original gender with genetic confirmation of an EDA mutation or with the clinical characteristics of HED including a history of decreased sweating;
- Unaffected, healthy male controls.
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.
- HED-affected male subjects who have had prior genetic testing confirming they do not have the X-linked form of the disorder.
Trial locations and contacts
1 site in 1 country.
United States1 site
Buenavista Palace Hotel and Spa
Orlando, Florida, 22206
About this study
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. A frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be also be recruited.
A subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status.
Read the detailed description
As the first exploratory objective for this study, we propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for XLHED. While 3D facial profiling has been reported in HED, the technology does not meet the ease-of-use criteria for a universal screening tool. FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. All males at risk for a diagnosis of XLHED and attending the 2012 NFED Family Conference will be eligible to participate. A short medical questionnaire will verify the clinical presentation, they will be requested to provide a baby photograph taken at up to 1 month of age (to be returned at study completion), and a frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be recruited at the 2012 NFED Family Conference for the photography study, in addition to the control data already available in the FDNA database.
As a second exploratory objective, a subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status. HED-affected patients in general (including XLHED) are reported to have evidence of growth restriction (weight for height) in this age range without clear mechanistic evidence. A screening panel of nutritional laboratory tests has been designed in collaboration with experts in the field at the University of California, San Francisco (UCSF). Anonymized samples will be analyzed at UCSF.
- Keywords
- X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED
- 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 |
|---|---|---|
| Male HED-Affected Individuals | Male subjects affected by HED | |
| Male controls | Male subjects not affected by HED |
What is being measured
The primary outcome is the main question the study is designed to answer.
Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Measured: Study day 1 - Day of study conduct
Exploratory Objective - To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs
Measured: Study day 1 - Day of study conduct
Exploratory Objective - To identify nutritional patterns associated with XLHED
Measured: Study day 1 - Day of study conduct
Exploratory Objective - To test for the presence of genetic mutations in a subset of HED-affected subjects enrolled in this study who lack prior genetic diagnosis
Measured: Study day 1 - Day of study conduct
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2012 (estimated)
- Study startJun 2012
- Primary completionJul 2012
- Study completionOct 2012
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
- 36 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
- NCT01629940
- Sponsor's protocol ID
- ECP-013
- Acronym
- ECP-013
- Status last verified
- Dec 2012
- First submitted
- 26 Jun 2012
- Last updated
- 18 Dec 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
- ClinicalTrials.gov ID
- NCT01629940
- Acronym / sponsor ID
- ECP-013 / ECP-013
- Keywords
- X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 36 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jun 2012
- Primary completion
- Jul 2012 (actual)
- Study completion
- Oct 2012 (actual)
- First posted
- 28 Jun 2012 (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 investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. A frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be also be recruited.
A subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status.
Detailed description
As the first exploratory objective for this study, we propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for XLHED. While 3D facial profiling has been reported in HED, the technology does not meet the ease-of-use criteria for a universal screening tool. FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. All males at risk for a diagnosis of XLHED and attending the 2012 NFED Family Conference will be eligible to participate. A short medical questionnaire will verify the clinical presentation, they will be requested to provide a baby photograph taken at up to 1 month of age (to be returned at study completion), and a frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be recruited at the 2012 NFED Family Conference for the photography study, in addition to the control data already available in the FDNA database.
As a second exploratory objective, a subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status. HED-affected patients in general (including XLHED) are reported to have evidence of growth restriction (weight for height) in this age range without clear mechanistic evidence. A screening panel of nutritional laboratory tests has been designed in collaboration with experts in the field at the University of California, San Francisco (UCSF). Anonymized samples will be analyzed at UCSF.
Study design
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Male HED-Affected Individuals | – | –Male subjects affected by HED |
| Male controls | – | –Male subjects not affected by HED |
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study is being conducted among family members attending the 2012 National Foundation for Ectodermal Dysplasia (NFED) Family Conference, July 19-21, 2012, in Orlando, FL.
Key inclusion criteria (8 listed)
- Males of any age who are registered and attending the 2012 NFED Family Conference;
- Conform to one of the following requirements for providing informed consent/assent:
- As described in Section 3.2 above, subjects must meet one of the following criteria:
Key exclusion criteria (3 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.
- HED-affected male subjects who have had prior genetic testing confirming they do not have the X-linked form of the disorder.
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
Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To identify nutritional patterns associated with XLHED
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To test for the presence of genetic mutations in a subset of HED-affected subjects enrolled in this study who lack prior genetic diagnosis
Time frame: Study day 1 - Day of study conduct
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 18 Dec 2012.
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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 and 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 8 inclusion and 3 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 18 Dec 2012. 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?
Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire (time frame: Study day 1 - Day of study conduct). The study lists 4 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 18 Dec 2012.