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

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.
 
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

Tracking Information
First Submitted Date March 26, 2014
First Posted Date March 31, 2014
Last Update Posted Date September 5, 2017
Actual Study Start Date April 2014
Actual Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 26, 2014)
  • 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: March 26, 2014)
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
Official Title Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
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.
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
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Those with the condition of XLHED up to age 36 months
Condition X-Linked Hypohidrotic Ectodermal Dysplasia
Intervention Not Provided
Study Groups/Cohorts XLHED
Those with the condition of XLHED
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Estimated Enrollment
 (submitted: March 26, 2014)
150
Original Estimated Enrollment Same as current
Actual Study Completion Date December 2016
Actual Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages up to 36 Months   (Child)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France,   Germany,   Italy,   United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02099552
Other Study ID Numbers ECP-015
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Edimer Pharmaceuticals
Study Sponsor Edimer Pharmaceuticals
Collaborators Not Provided
Investigators
Study Director: Ramsey Johnson, MSM Edimer Pharmaceuticals
PRS Account Edimer Pharmaceuticals
Verification Date August 2017