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 range

4 Years

Sex

ALL

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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 range

4 Years

Sex

ALL

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