Overview

This trial is active, not recruiting.

Condition x-linked hypohidrotic ectodermal dysplasia
Sponsor Edimer Pharmaceuticals
Start date April 2014
End date October 2019
Trial size 150 participants
Trial identifier NCT02099552, ECP-015

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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model cohort
Arm
Those with the condition of XLHED

Primary Outcomes

Measure
To assess clinical course of untreated XLHED individuals
time frame: Up to 5 years of life
To assess the phenotype of untreated XLHED individuals
time frame: Up to 5 years of life

Secondary Outcomes

Measure
To assess changes in endpoint assessments over time (growth and development)
time frame: Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)
time frame: Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (sweat rate)
time frame: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (Dentition)
time frame: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (dry eye)
time frame: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (skin, hair and nail health)
time frame: Baseline through 5 years of age
To assess changes in endpoint assessments over time (respiratory health)
time frame: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (craniofacial development)
time frame: Baseline and yearly through 5 years of age
To assess genotype-phenotype correlation in XLHED affected individuals
time frame: Baseline through 5 years of age

Eligibility Criteria

Male or female participants up to 36 months old.

Inclusion Criteria: Subjects must meet all of the following criteria to be enrolled in this study: 1. Confirmed genetic diagnosis of XLHED 2. Written informed consent of both parents (if reasonably available) Exclusion Criteria: Subjects who meet any of the following criteria cannot be enrolled in this study: 1. Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED 2. 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. 3. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists 4. Presence of pacemakers

Additional Information

Official title Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
Description Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. 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. Genotype-phenotype correlations in XLHED, based on well-documented health records and prospective assessments on genetically-confirmed individuals, may now provide new and clinically-predictive information for the benefit of patients, families, health care providers and clinical investigators designing trials for therapeutic interventions.
Trial information was received from ClinicalTrials.gov and was last updated in September 2015.
Information provided to ClinicalTrials.gov by Edimer Pharmaceuticals.