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

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

Study Description
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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
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
XLHED
Those with the condition of XLHED


Outcome Measures
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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
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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
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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
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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
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Study Director: Ramsey Johnson, MSM Edimer Pharmaceuticals
More Information
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Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov Identifier: NCT02099552    
Other Study ID Numbers: ECP-015
First Posted: March 31, 2014    Key Record Dates
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:
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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