CompletedNot Applicable

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

United States, France, Germany150 participantsStarted 2014-04

Plain-language summary

The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.

Who can participate

Age range36 Months

SexALL

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Inclusion criteria

✓. Confirmed genetic diagnosis of XLHED
✓. Written informed consent of both parents (if reasonably available)

Exclusion criteria

✕. Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED
✕. Having received an investigational study drug prior to enrollment. For subjects less than 6 months of age, the mother cannot have taken an investigational drug during her pregnancy.
✕. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
✕. Presence of pacemakers

What they're measuring

To assess clinical course of untreated XLHED individuals

Timeframe: Up to 5 years of life

To assess the phenotype of untreated XLHED individuals

Timeframe: Up to 5 years of life

Trial details

NCT IDNCT02099552

SponsorEdimer Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2016-12

View on ClinicalTrials.gov More X-Linked Hypohidrotic Ectodermal Dysplasia trials