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Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Edimer Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01386775
First received: June 29, 2011
Last updated: June 26, 2012
Last verified: June 2012
History of Changes
  Purpose

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).


Condition
Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Official Title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Resource links provided by NLM:

MedlinePlus related topics: Sweat
U.S. FDA Resources

Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:
  • 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 [ Time Frame: Day of study conduct ] [ Designated as safety issue: No ]
    Day 1


Secondary Outcome Measures:
  • Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire [ Time Frame: Day of study conduct ] [ Designated as safety issue: No ]
    Study Day 1

  • Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings [ Time Frame: Day of study conduct ] [ Designated as safety issue: No ]
    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 [ Time Frame: Day of study conduct ] [ Designated as safety issue: No ]
    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 [ Time Frame: Day of study conduct ] [ Designated as safety issue: No ]
    Study Day 1


Enrollment: 64
Study Start Date: June 2011
Study Completion Date: September 2011
Primary Completion Date: July 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts
HED Affected Males
Controls

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.

  Eligibility

Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference

Criteria

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.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01386775

Locations
United States, Illinois
Hilton Garden Inn St. Louis Shiloh/O'Fallon
O'Fallon, Illinois, United States, 62269
Sponsors and Collaborators
Edimer Pharmaceuticals
Investigators
Principal Investigator: Dorothy K Grange, MD Washington University School of Medicine
  More Information

No publications provided

Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01386775     History of Changes
Other Study ID Numbers: ECP-007
Study First Received: June 29, 2011
Last Updated: June 26, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Edimer Pharmaceuticals:
X-Linked Hypohidrotic Ectodermal Dysplasia
XLHED
Hypohidrotic Ectodermal Dysplasia
HED

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Hyperplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
 Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked
Pathologic Processes

ClinicalTrials.gov processed this record on May 22, 2013