X-Linked Hypohidrotic Ectodermal DysplasiaECP-015NCT02099552
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
An observational study of X-Linked Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 7 sites in 5 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 36 months
- Conditions the study is for
- X-Linked Hypohidrotic Ectodermal Dysplasia
- How many people
- 150 participants
- Where
- 7 sitesin 5 countries
- Study dates
- Apr 2014to Dec 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 36 months
- All sexes
- No healthy volunteers
- Child
Study population: Those with the condition of XLHED up to age 36 months
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
7 sites in 5 countries.
7 sites in 5 countries
United States3 sites
University of California, San Francisco
San Francisco, California, 94143
Washington University School of Medicine
St Louis, Missouri, 63110
Children's National Medical Center
Washington D.C., District of Columbia, 20010
About this study
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.
Read the 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.
- Keywords
- X-Linked hypohidrotic ectodermal dysplasia, XLHED, Hypohidrotic ectodermal dysplasia, HED, Christ-Siemens-Touraine syndrome
- Medical subject headings
- Ectodermal Dysplasia 1, Anhidrotic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| XLHED | Those with the condition of XLHED |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Up to 5 years of life
Secondary outcomes (9)
To assess changes in endpoint assessments over time (growth and development)
Measured: Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)
Measured: Baseline and yearly up through 5 years of age
To assess changes in endpoint assessments over time (sweat rate)
Measured: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (Dentition)
Measured: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (dry eye)
Measured: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (skin, hair and nail health)
Measured: Baseline through 5 years of age
To assess changes in endpoint assessments over time (respiratory health)
Measured: Baseline and yearly through 5 years of age
To assess changes in endpoint assessments over time (craniofacial development)
Measured: Baseline and yearly through 5 years of age
To assess genotype-phenotype correlation in XLHED affected individuals
To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects.
Measured: Baseline through 5 years of age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2014 (estimated)
- Study startApr 2014
- Primary completionDec 2016
- Study completionDec 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-Linked Hypohidrotic Ectodermal DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ramsey Johnson, MSM, Study director, Edimer Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02099552
- Sponsor's protocol ID
- ECP-015
- Acronym
- ECP-015
- Status last verified
- Aug 2017
- First submitted
- 26 Mar 2014
- Last updated
- 5 Sep 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
- ClinicalTrials.gov ID
- NCT02099552
- Acronym / sponsor ID
- ECP-015 / ECP-015
- Keywords
- X-Linked hypohidrotic ectodermal dysplasia, XLHED, Hypohidrotic ectodermal dysplasia, HED, Christ-Siemens-Touraine syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Apr 2014 (actual)
- Primary completion
- Dec 2016 (actual)
- Study completion
- Dec 2016 (actual)
- First posted
- 31 Mar 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| XLHED | – | –Those with the condition of XLHED |
Who may qualify
- Ages
- Up to 36 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Those with the condition of XLHED up to age 36 months
Key inclusion criteria (3 listed)
- Confirmed genetic diagnosis of XLHED
- Written informed consent of both parents (if reasonably available)
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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.
9 secondary outcomes
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ramsey Johnson, MSM study director
Edimer Pharmaceuticals
7 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-Linked Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 7 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Sep 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, France, Germany, Italy, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To assess clinical course of untreated XLHED individuals (time frame: Up to 5 years of life). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Sep 2017.