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

• ClinicalTrials.gov Identifier: NCT02099552
• Recruitment Status: Completed
• First Posted: March 31, 2014
• Last Update Posted: September 5, 2017
• Sponsor: Edimer Pharmaceuticals
• Information provided by (Responsible Party): Edimer Pharmaceuticals

Study Description

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.

Condition or disease
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 Design

• Study Type: Observational
• Estimated Enrollment: 150 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
• Actual Study Start Date: April 2014
• Actual Primary Completion Date: December 2016
• Actual Study Completion Date: December 2016

Groups and Cohorts

Group/Cohort
XLHED; Those with the condition of XLHED

Outcome Measures

Primary Outcome Measures :

1. 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.
2. 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.

Secondary Outcome Measures :

1. To assess changes in endpoint assessments over time (growth and development) [ Time Frame: Baseline and yearly up through 5 years of age ]
2. 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 ]
3. To assess changes in endpoint assessments over time (sweat rate) [ Time Frame: Baseline and yearly through 5 years of age ]
4. To assess changes in endpoint assessments over time (Dentition) [ Time Frame: Baseline and yearly through 5 years of age ]
5. To assess changes in endpoint assessments over time (dry eye) [ Time Frame: Baseline and yearly through 5 years of age ]
6. To assess changes in endpoint assessments over time (skin, hair and nail health) [ Time Frame: Baseline through 5 years of age ]
7. To assess changes in endpoint assessments over time (respiratory health) [ Time Frame: Baseline and yearly through 5 years of age ]
8. To assess changes in endpoint assessments over time (craniofacial development) [ Time Frame: Baseline and yearly through 5 years of age ]
9. 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.

Eligibility Criteria

• Ages Eligible for Study: up to 36 Months (Child)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Those with the condition of XLHED up to age 36 months

Criteria

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

Contacts and Locations

Locations

United States, California

University of California, San Francisco

San Francisco, California, United States, 94143

United States, District of Columbia

Children's National Medical Center

Washington, D.C., District of Columbia, United States, 20010

United States, Missouri

Washington University School of Medicine

Saint Louis, Missouri, United States, 63110

France

Hôpital Necker-Enfants Malades

Paris, France, 75015

Germany

University Hospital Erlangen

Erlangen, Bavaria, Germany, 91054

Italy

Azienda Ospedaliera-Polo Universitario "Luigi Sacco"

Milan, Italy, 20157

United Kingdom

University Hospital of Wales

Cardiff, United Kingdom, CF14 4XW

Sponsors and Collaborators

Edimer Pharmaceuticals

Investigators

• Study Director: Ramsey Johnson, MSM; Edimer Pharmaceuticals

More Information

• Responsible Party: Edimer Pharmaceuticals
• ClinicalTrials.gov Identifier: NCT02099552
• Other Study ID Numbers: ECP-015
• First Posted: March 31, 2014
• Last Update Posted: September 5, 2017
• Last Verified: August 2017

Keywords provided by Edimer Pharmaceuticals:

X-Linked hypohidrotic ectodermal dysplasia; XLHED; Hypohidrotic ectodermal dysplasia; HED; Christ-Siemens-Touraine syndrome

Additional relevant MeSH terms:

Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic; Hyperplasia; Pathologic Processes; Abnormalities, Multiple; Congenital Abnormalities; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases; Genetic Diseases, X-Linked