NCT02099552

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.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Apr 2014

Typical duration for all trials

Geographic Reach
5 countries

7 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 26, 2014

Completed
5 days until next milestone

First Posted

Study publicly available on registry

March 31, 2014

Completed
1 day until next milestone

Study Start

First participant enrolled

April 1, 2014

Completed
2.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2016

Completed
Last Updated

September 5, 2017

Status Verified

August 1, 2017

Enrollment Period

2.7 years

First QC Date

March 26, 2014

Last Update Submit

August 31, 2017

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia

Keywords

X-Linked hypohidrotic ectodermal dysplasiaXLHEDHypohidrotic ectodermal dysplasiaHEDChrist-Siemens-Touraine syndrome

Outcome Measures

Primary Outcomes (2)

  • To assess clinical course of untreated XLHED individuals

    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.

    Up to 5 years of life

  • To assess the phenotype of untreated XLHED individuals

    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.

    Up to 5 years of life

Secondary Outcomes (9)

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

    Baseline and yearly up through 5 years of age

  • To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)

    Baseline and yearly up through 5 years of age

  • To assess changes in endpoint assessments over time (sweat rate)

    Baseline and yearly through 5 years of age

  • To assess changes in endpoint assessments over time (Dentition)

    Baseline and yearly through 5 years of age

  • To assess changes in endpoint assessments over time (dry eye)

    Baseline and yearly through 5 years of age

  • +4 more secondary outcomes

Study Arms (1)

XLHED

Those with the condition of XLHED

Eligibility Criteria

AgeUp to 36 Months
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

Those with the condition of XLHED up to age 36 months

You may qualify if:

  • Subjects must meet all of the following criteria to be enrolled in this study:
  • Confirmed genetic diagnosis of XLHED
  • Written informed consent of both parents (if reasonably available)

You may not qualify if:

  • Subjects who meet any of the following criteria cannot be enrolled in this study:
  • Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED
  • 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.
  • Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
  • Presence of pacemakers

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

University of California, San Francisco

San Francisco, California, 94143, United States

Location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

University Hospital Erlangen

Erlangen, Bavaria, 91054, Germany

Location

Azienda Ospedaliera-Polo Universitario "Luigi Sacco"

Milan, 20157, Italy

Location

University Hospital of Wales

Cardiff, CF14 4XW, United Kingdom

Location

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal DysplasiaAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Ramsey Johnson, MSM

    Edimer Pharmaceuticals

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 26, 2014

First Posted

March 31, 2014

Study Start

April 1, 2014

Primary Completion

December 1, 2016

Study Completion

December 1, 2016

Last Updated

September 5, 2017

Record last verified: 2017-08

Locations

GB(1)IT(1)US(3)FR(1)DE(1)