CompletedNot Applicable

Phenotypic Properties in Individuals Affected With XLHED

United States30 participantsStarted 2013-05

Plain-language summary

The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.

Who can participate

Age range4 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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

Exclusion criteria

✕. 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

What they're measuring

To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls

Timeframe: Study day 1

To test and refine a computer algorithm for facial recognition of XLHED

Timeframe: Study day 1

To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males

Timeframe: Study day 1

To test for the presence of genetic mutations in subjects at risk for XLHED

Timeframe: Study day 1

To test the validity of a using saliva samples for genetic testing

Timeframe: Study day 1

Trial details

NCT IDNCT01871714

SponsorEdimer Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2013-07

View on ClinicalTrials.gov More X Linked Hypohidrotic Ectodermal Dysplasia trials

Who can participate

Age range4 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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

Exclusion criteria

✕. 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

What they're measuring

To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls

Timeframe: Study day 1

To test and refine a computer algorithm for facial recognition of XLHED

Timeframe: Study day 1

To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males

Timeframe: Study day 1

To test for the presence of genetic mutations in subjects at risk for XLHED

Timeframe: Study day 1

To test the validity of a using saliva samples for genetic testing

Timeframe: Study day 1