Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

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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


Primary Outcome

To assess clinical course of untreated XLHED individuals

Secondary Outcome

 To assess changes in endpoint assessments over time (growth and development)

Condition

X-Linked Hypohidrotic Ectodermal Dysplasia


Study Arms / Comparison Groups

 XLHED
Description:  Those with the condition of XLHED

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

150

Start Date

April 2014

Completion Date

December 2016

Primary Completion Date

December 2016

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
      

Gender

All

Ages

N/A - 36 Months

Accepts Healthy Volunteers

No

Contacts

Ramsey Johnson, MSM, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT02099552

Organization ID

ECP-015


Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals


Study Sponsor

Ramsey Johnson, MSM, Study Director, Edimer Pharmaceuticals


Verification Date

August 2017