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

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)

Status

Withdrawn

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03912792

Enrollment

Registered

2019-04-11

Start date

2019-06-28

Completion date

2019-09-30

Last updated

2019-07-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

XLHED

Keywords

Natural History Study, X-Linked Hypohidrotic Ectodermal Dysplasia

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

No minimum to 80 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame
The volume of sweat from a pilocarpine-induced sweat test	Day 1

Countries

United States

Outcome results