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Summary

Eligibility
for people ages up to 36 months
Location
at San Francisco, California and other locations
Dates
study started
estimated completion:

Description

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.

Details

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.

Keywords

X-Linked Hypohidrotic Ectodermal Dysplasia XLHED Hypohidrotic ectodermal dysplasia HED Christ-Siemens-Touraine syndrome

Eligibility

You can join if…

Open to people ages up to 36 months

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)

You CAN'T join if...

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

Locations

  • Washington University School of Medicine
    St. Louis, Missouri, 63110, United States
  • Children's National Medical Center
    Washington, District of Columbia, 20010, United States
  • University Hospital of Wales
    Cardiff, CF14 4XW, United Kingdom
  • Hôpital Necker-Enfants Malades
    Paris, 75015, France
  • University Hospital Erlangen
    Erlangen, Bavaria, 91054, Germany
  • Azienda Ospedaliera-Polo Universitario "Luigi Sacco"
    Milan, 20157, Italy

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Edimer Pharmaceuticals
Links
XLHED Network sign-up
Tools for those seeing genetic counseling
ID
NCT02099552
Study Type
Observational
Last Updated
September 2015