Clinical Trial: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Brief 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.

Detailed Summary: 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.
Sponsor: Edimer Pharmaceuticals

Current Primary Outcome:

  • To assess clinical course of untreated XLHED individuals [ Time Frame: Up to 5 years of life ]
    To characterize the clinical course of untreated XLHED male and female subjects in early childhood, capturing data from physician and hospital records, medical history including growth and development, and family interviews.
  • To assess the phenotype of untreated XLHED individuals [ Time Frame: Up to 5 years of life ]
    To characterize the phenotype of untreated XLHED male subjects and female in early childhood with endpoint assessments including sweat (males only), dentition, craniofacial development, pulmonary and ocular health.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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 ]
    To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects.


Original Secondary Outcome: Same as current

Information By: Edimer Pharmaceuticals

Dates:
Date Received: March 26, 2014
Date Started: April 2014
Date Completion: October 2019
Last Updated: September 3, 2015
Last Verified: September 2015