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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02099552
First Posted: March 31, 2014
Last Update Posted: September 4, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Edimer Pharmaceuticals
  Purpose
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
X-Linked Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Other
Official Title: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Resource links provided by NLM:


Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:
  • 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.

  • 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:
  • 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 ]
  • 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 [ 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.


Estimated Enrollment: 150
Actual Study Start Date: April 2014
Study Completion Date: December 2016
Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
XLHED
Those with the condition of XLHED

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.
  Eligibility

Information from the National Library of Medicine

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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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02099552


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     History of Changes
Other Study ID Numbers: ECP-015
First Submitted: March 26, 2014
First Posted: March 31, 2014
Last Update Posted: September 4, 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:
Hyperplasia
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked