A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

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Brief Title

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

Official Title

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by X-Linked Hypohidrotic XLHED Ectodermal Dysplasia (XLHED)

Brief Summary

      The proposed natural history study will enroll male patients with a diagnosis of XLHED,
      female carriers of XLHED and healthy volunteers. The study protocol will include collection
      of XLHED questionnaires and clinical outcomes using minimally invasive technologies. Data
      will be collected both retrospectively and prospectively.

      Clinical outcome assessments will be performed at the NFED Family Conference on July 11-12,
      2019. Study participants will be able to complete XLHED questionnaires electronically ahead
      of the conference.
    



Study Type

Observational


Primary Outcome

The volume of sweat from a pilocarpine-induced sweat test


Condition

XLHED


Study Arms / Comparison Groups

 XLHED Patients
Description:  

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

0

Start Date

June 28, 2019

Completion Date

September 2019

Primary Completion Date

September 2019

Eligibility Criteria

        Inclusion Criteria:

          -  Informed Consent

          -  Males with XLHED, female carriers of XLHED and healthy volunteers

        Exclusion Criteria:

          -  Treatment with an investigational study drug for XLHED

          -  Any major medical problems that would prevent her/him from participating in this study

          -  Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
             (Examples: Urecholine, Salagen, Pilocar, and Provocholine)

          -  Pacemaker
      

Gender

All

Ages

N/A - 80 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Dorothy K Grange, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03912792

Organization ID

DMX101-0001


Responsible Party

Sponsor

Study Sponsor

Dermelix Biotherapeutics, LLC.


Study Sponsor

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


Verification Date

June 2019