Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia Clinical Trial

— ECP-015  

Official title:

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02099552
• Other study ID #: ECP-015
• Status: Completed
• Phase: N/A
• First received: March 26, 2014
• Last updated: August 31, 2017
• Start date: April 2014
• Est. completion date: December 2016

Study information

• Verified date: August 2017
• Source: Edimer Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 150
• Est. completion date: December 2016
• Est. primary completion date: December 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 36 Months

Eligibility

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

Related Conditions & MeSH terms

• Ectodermal Dysplasia
• Hyperplasia
• X-Linked Hypohidrotic Ectodermal Dysplasia

Locations

Country	Name	City	State
France	Hôpital Necker-Enfants Malades	Paris
Germany	University Hospital Erlangen	Erlangen	Bavaria
Italy	Azienda Ospedaliera-Polo Universitario "Luigi Sacco"	Milan
United Kingdom	University Hospital of Wales	Cardiff
United States	Washington University School of Medicine	Saint Louis	Missouri
United States	University of California, San Francisco	San Francisco	California
United States	Children's National Medical Center	Washington, D.C.	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
Edimer Pharmaceuticals

Countries where clinical trial is conducted

United States,  France,  Germany,  Italy,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	To assess changes in endpoint assessments over time (growth and development)		Baseline and yearly up through 5 years of age
Secondary	To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)		Baseline and yearly up through 5 years of age
Secondary	To assess changes in endpoint assessments over time (sweat rate)		Baseline and yearly through 5 years of age
Secondary	To assess changes in endpoint assessments over time (Dentition)		Baseline and yearly through 5 years of age
Secondary	To assess changes in endpoint assessments over time (dry eye)		Baseline and yearly through 5 years of age
Secondary	To assess changes in endpoint assessments over time (skin, hair and nail health)		Baseline through 5 years of age
Secondary	To assess changes in endpoint assessments over time (respiratory health)		Baseline and yearly through 5 years of age
Secondary	To assess changes in endpoint assessments over time (craniofacial development)		Baseline and yearly through 5 years of age
Secondary	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