Trial document





This study has been imported from ClinicalTrials.gov without additional data checks.
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  DRKS00007318

Trial Description

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Title

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

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Trial Acronym

ECP-015

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URL of the Trial

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Brief Summary in Lay Language

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.

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Brief Summary in Scientific Language

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.

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Organizational Data

  •   DRKS00007318
  •   2016/03/21
  •   2014/03/26
  •   no
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Secondary IDs

  •   NCT02099552  (ClinicalTrials.gov)
  •   ECP-015  (Edimer Pharmaceuticals)
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Health Condition or Problem studied

  •   X-Linked Hypohidrotic Ectodermal Dysplasia
  •   Q82.4 -  Ectodermal dysplasia (anhidrotic)
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Interventions/Observational Groups

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Characteristics

  •   Non-interventional
  •   Observational study
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  •   N/A
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Primary Outcome

- 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.

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Secondary Outcome

- 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.

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Countries of Recruitment

  •   United States
  •   France
  •   Germany
  •   Italy
  •   United Kingdom
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Locations of Recruitment

  •  
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Recruitment

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  •   2014/04/30
  •   150
  •   Multicenter trial
  •   International
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Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   36   Months
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Additional 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)

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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

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Addresses

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    • Edimer Pharmaceuticals
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    • Edimer Pharmaceuticals
    • Kenneth Huttner, MD, PhD 
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    • Ramsey Johnson, MSM 
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Sources of Monetary or Material Support

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    • Bitte wenden Sie sich an den Sponsor / Please refer to primary sponsor
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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

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The parameters in ClinicalTrials.gov and DRKS are not identical. Therefore the data import from ClinicalTrials.gov required adjustments. For full details please see the DRKS FAQs .
  •   1
  •   2014/11/05
* This entry means the parameter is not applicable or has not been set.