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

Dermelix Biotherapeutics, LLC.

Overview

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

Conditions

XLHED

Eligibility

Sex: ALLMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Chicago Marriott Lincolnshire Resort

Lincolnshire, Illinois, United States

Outcomes

Primary Outcomes

The volume of sweat from a pilocarpine-induced sweat test

Time frame: Day 1

Data from ClinicalTrials.gov

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