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

Related Clinical Trial
Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Sweat Duct Imaging in Mother/Newborn Dyads Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Phenotypic Properties in Individuals Affected With XLHED Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) 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 A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia – A

Brief 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

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

Brief 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 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 Type

Observational


Primary Outcome

Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire


Condition

X-linked Hypohidrotic Ectodermal Dysplasia


Study Arms / Comparison Groups

 Male HED-Affected Individuals
Description:  Male subjects affected by HED

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

36

Start Date

June 2012

Completion Date

October 2012

Primary Completion Date

July 2012

Eligibility Criteria

        Inclusion Criteria:

          1. Males of any age who are registered and attending the 2012 NFED Family Conference;

          2. 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.

          3. 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.

        Exclusion Criteria:

          1. Subjects who are not able or are not willing to comply with the procedures of this
             protocol.

          2. Subjects with any major medical problem that will prevent them from participating in
             this study.

          3. HED-affected male subjects who have had prior genetic testing confirming they do not
             have the X-linked form of the disorder.
      

Gender

Male

Ages

N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Dorothy K Grange, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01629940

Organization ID

ECP-013


Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals


Study Sponsor

Dorothy K Grange, MD, Principal Investigator, Washington University School of Medicine


Verification Date

December 2012