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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

WITHDRAWN

Study Classification

OBSERVATIONAL

Study Start Date

2019-06-28

Study Completion Date

2019-09-30

Brief Summary

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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.

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Detailed Description

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Conditions

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XLHED

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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XLHED Patients

No interventions assigned to this group

Healthy Controls

No interventions assigned to this group

Eligibility Criteria

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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

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes