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.
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.
Study Type
OBSERVATIONAL
Enrollment
150
University of California, San Francisco
San Francisco, California, United States
Children's National Medical Center
Washington D.C., District of Columbia, United States
Washington University School of Medicine
St Louis, Missouri, United States
Hôpital Necker-Enfants Malades
Paris, France
To assess clinical course of untreated XLHED individuals
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.
Time frame: Up to 5 years of life
To assess the phenotype of untreated XLHED individuals
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.
Time frame: Up to 5 years of life
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
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University Hospital Erlangen
Erlangen, Bavaria, Germany
Azienda Ospedaliera-Polo Universitario "Luigi Sacco"
Milan, Italy
University Hospital of Wales
Cardiff, United Kingdom
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
To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects.
Time frame: Baseline through 5 years of age