Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Completed

• Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia

• Registration Number: NCT02099552
• Lead Sponsor: Edimer Pharmaceuticals

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 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.

Study Timeline

• Study First Submitted: 2014-03-26
• Study First Submitted QC: 2014-03-26
• Study First Posted: 2014-03-31
• Study Start: 2014-04
• Primary Completion: 2016-12
• Study Completion: 2016-12
• Status Verified: 2017-08
• Last Update Submitted: 2017-08-31
• Last Update Posted: 2017-09-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To assess clinical course of untreated XLHED individuals	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	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.

Secondary Outcome Measures

Name	Time	Method
To assess changes in endpoint assessments over time (growth and development)	Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)	Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (sweat rate)	Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (Dentition)	Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (dry eye)	Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (skin, hair and nail health)	Baseline through 5 years of age
To assess changes in endpoint assessments over time (respiratory health)	Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (craniofacial development)	Baseline and yearly through 5 years of age
To assess genotype-phenotype correlation in XLHED affected individuals	Baseline through 5 years of age	To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects.

Trial Locations

Locations (7)

University Hospital of Wales; 🇬🇧 Cardiff, United Kingdom

University of California, San Francisco; 🇺🇸 San Francisco, California, United States

Children's National Medical Center; 🇺🇸 Washington, D.C., District of Columbia, United States

Azienda Ospedaliera-Polo Universitario "Luigi Sacco"; 🇮🇹 Milan, Italy

University Hospital Erlangen; 🇩🇪 Erlangen, Bavaria, Germany

Washington University School of Medicine; 🇺🇸 Saint Louis, Missouri, United States

Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France