Hypohidrotic Ectodermal Dysplasia
Conditions
Keywords
X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, Hypohidrotic Ectodermal Dysplasia, HED
Brief summary
This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation).
Detailed description
This pilot study in affected HED males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation). To this end, priority will be given to families that contain multiple affected siblings (i.e. two brothers). Summary data will be generated for the various groups tested, but no power calculations are involved.
Interventions
None listed
Sponsors
Edimer Pharmaceuticals
Eligibility
Sex/Gender
MALE
Age
1 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Registered and attending the 2011 NFED Family Conference; * One year of age or greater; * 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 with the clinical characteristics of HED, including at least a history of decreased sweating and either abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns), and/or sparseness of scalp and body hair (Male HED subjects with an affected sibling also enrolling in the study will be given priority to be in the study); * Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers.
Exclusion criteria
* Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists; * Known hypersensitivity to lidocaine or lidocaine like agents; * Presence of pacemakers; * 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls, including determination of the number of sweat ducts and the rate of sweating | Day of study conduct | Day 1 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire | Day of study conduct | Study Day 1 |
| Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings | Day of study conduct | Study Day 1 - Comparison of sweat duct counts, sweat rate and hair analysis among HED-affected male siblings |
| Evaluation of hair RNA profiles in samples from HED and unaffected male controls | Day of study conduct | Study Day 1 -This is a novel use of the RNASeq technology and will follow the protocol provided by an expert in the field, Dr. Benjamin Yu. The hairs will be cut not plucked from the occipital scalp, with 10-20 collected hairs placed in a regular mailing envelope. The hair-containing envelopes will be shipped to Dr. Yu's laboratory for processing and analysis. |
| Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study | Day of study conduct | Study Day 1 |
Countries
United States
Outcome results
None listed