Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (ECP-015)

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.

Study Overview

• Status: Completed
• Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia

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 Type: Observational
• Enrollment (Anticipated): 150

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Hôpital Necker-Enfants Malades
• Germany
  • Bavaria
    • Erlangen, Bavaria, Germany, 91054
      • University Hospital Erlangen
• Italy
  • Milan, Italy, 20157
    • Azienda Ospedaliera-Polo Universitario "Luigi Sacco"
• United Kingdom
  • Cardiff, United Kingdom, CF14 4XW
    • University Hospital of Wales
• United States
  • California
    • San Francisco, California, United States, 94143
      • University of California, San Francisco
  • District of Columbia
    • Washington, D.C., District of Columbia, United States, 20010
      • Children's National Medical Center
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 3 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Those with the condition of XLHED up to age 36 months

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
XLHED; Those with the condition of XLHED

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	Up to 5 years of life

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects.	Baseline through 5 years of age

Collaborators and Investigators

• Sponsor: Edimer Pharmaceuticals
• Investigators: Study Director: Ramsey Johnson, MSM, Edimer Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2014
• Primary Completion (Actual): December 1, 2016
• Study Completion (Actual): December 1, 2016

Study Registration Dates

• First Submitted: March 26, 2014
• First Submitted That Met QC Criteria: March 26, 2014
• First Posted (Estimate): March 31, 2014

Study Record Updates

• Last Update Posted (Actual): September 5, 2017
• Last Update Submitted That Met QC Criteria: August 31, 2017
• Last Verified: August 1, 2017

More Information

Terms related to this study

• Keywords: Hypohidrotic ectodermal dysplasia; HED; XLHED; X-Linked hypohidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Hyperplasia; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic
• Other Study ID Numbers: ECP-015