X-linked Hypohidrotic Ectodermal DysplasiaECP-002eNCT01992289
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
An observational study of X-linked Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 7 sites in 5 countries.
Trial summary
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. Read more about this study
- Who is it for?
- Ages 6 months to 1 year, men only
- Conditions the study is for
- X-linked Hypohidrotic Ectodermal Dysplasia
- What is being tested?
- EDI200
- How many people
- 10 participants
- Where
- 7 sitesin 5 countries
- Study dates
- Mar 2014to Mar 2025
- 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 6 months to 1 year
- Men only
- No healthy volunteers
- Child
Study population: This is an open-label extension study without additional study drug administration on as many as 10 XLHED-affected males previously having received EDI200 in the ECP-002 trial. XLHED-affected male infants who completed the ECP-002 trial will be followed with yearly visits starting at age 1 year.
Who may be able to join
- Subjects must meet all of the following criteria to be enrolled:
- Subject received at least one dose of EDI200 in the neonate study ECP-002
- Written informed consent of parent(s)
Who cannot join
- Subjects who meet any of the following criteria may not be enrolled in this study:
- Medically-significant postnatal complications or congenital anomalies outside of those considered to be associated with the diagnosis of XLHED
- Major protocol violations during enrollment in study ECP-002 as determined by the Sponsor
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 goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. The efficacy evaluations will incorporate growth and development parameters, frequency of infections and hospitalizations, and age-appropriate assessments of ectoderm-derived organ function. The safety evaluations will include physical examinations, adverse events and concomitant medication documentation, and laboratory testing. Funding Source - FDA OOPD
Read the detailed description
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a disorder of ectoderm development in which sweat and other secretory gland hypoplasias predispose affected infants to serious and potentially life-threatening hyperthermia and pneumonia. Those XLHED patients who survive infancy face a host of ectoderm-related clinical conditions including failure to thrive, oligodontia and misshapen teeth, mid-face hypoplasia, eczema, chronic dry eyes, asthma, respiratory infections, sinusitis and chronic nosebleeds. XLHED is caused by inherited defects in the ectodysplasin gene (EDA, www.ncbi.nlm.nih.gov/omim) resulting in a deficiency of the ectoderm signaling protein EDA-A1. As is the general case with X-linked disorders, hemizygous XLHED males are more consistently and severely affected, while heterozygous XLHED females have a more variable phenotype.
In normal development, EDA-A1 acts as an ectoderm signaling molecule that binds specifically to the EDA-A1 receptor (EDAR) triggering initiation and maturation of ectodermal appendages into sweat and other secretory glands, tooth buds and hair follicles. In the case of XLHED, EDA-A1 deficiency results in the absence or functional hypoplasia of the ectoderm appendages. There are no therapies currently available for XLHED that prevent or correct the underlying ectodermal abnormalities.
EDI200 is a fully humanized EDA-A1 replacement molecule under development as a novel therapeutic for XLHED. EDI200 comprises the human IgG1 Fc domain linked to the human EDA-A1 receptor-binding domain. On-target EDI200 activation of the EDA-A1/EDAR signaling pathway in vivo is evidenced by the remarkable phenotypic response in preclinical models. In XLHED-affected animals, EDA-A1 deficiency is corrected by a single course of EDI200 therapy, administered either prenatally (mice) or postnatally (newborn mice and dogs), resulting in a significant and sustained improvement in the health of the treated animals. Postnatal studies in both mice and dogs demonstrated a consistent and restricted window of efficacy. These results support the clinical development of EDI200 as a therapeutic to be administered to XLHED-affected patients in the neonatal period or earlier.
ECP-002, a Phase 2, international, first-in-neonate EDI200 study is enrolling treatment-naïve, XLHED-affected male newborns in the first two weeks of life. All subjects will meet entry criteria including documentation of an EDA mutation associated with XLHED. Following Baseline evaluations, EDI200 dosing is initiated between day-of-life 2 and 14, with each study subject receiving a single course of study drug administered at 2 doses/week for a total of 5 doses. The treatment study protocol incorporates comprehensive safety, pharmacokinetic (PK), immunogenetic, and pharmacodynamic (PD)/efficacy evaluations continuing through age 6 months.
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. The efficacy evaluations will incorporate growth and development parameters, frequency of infections and hospitalizations, and age-appropriate assessments of ectoderm-derived organ function. The safety evaluations will include physical examinations, adverse events and concomitant medication documentation, and laboratory testing.
- Being tested
- EDI200
- Keywords
- XLHED, HED, Hypohidrotic ectodermal dysplasia, 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.
EDI200Drug
Also called APO200
Long-term follow-up study of subjects that received EDI200 as part of protocol ECP-002
| Study group | Role | What they receive |
|---|---|---|
| No treatment | This is a long-term follow-up study of subjects that received EDI200 as part of protocol ECP-002. Receives: Drug: EDI200 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Growth and development
Growth and development as compared with age-matched standards
Measured: Annually up to age 10 years
Dentition
Dentition assessed by dental examinations and radiographs at ages 2 yrs, 5 yrs, and 10 yrs
Measured: Change from baseline dentition at 2, 5 and 10 years
Secondary outcomes (12)
Mortality
At each annual visit the subject and his family will be questioned regarding mortality, hospitalization, infections, unexplained fevers and heat intolerance occurring since the last annual visit.
Measured: Annually up to age 10 years
Hospitalizations
At each annual visit the subject and his family will be questioned regarding mortality, hospitalization, infections, unexplained fevers and heat intolerance occurring since the last annual visit.
Measured: Annually up to age 10 years
Infections
At each annual visit the subject and his family will be questioned regarding mortality, hospitalization, infections, unexplained fevers and heat intolerance occurring since the last annual visit.
Measured: Annually up to age 10 years
Unexplained fevers
At each annual visit the subject and his family will be questioned regarding mortality, hospitalization, infections, unexplained fevers and heat intolerance occurring since the last annual visit.
Measured: Annually up to age 10 years
Heat intolerance
At each annual visit the subject and his family will be questioned regarding mortality, hospitalization, infections, unexplained fevers and heat intolerance occurring since the last annual visit.
Measured: Annually up to age 10 years
Sweat gland density
Sweat duct density (number/cm2) from at least two different sites on the soles of the feet or the palms of the hands will be determined through analysis of images collected annually if positive findings were observed at the end of protocol ECP-002 and will continue until negative results are observed on two consecutive evaluations. This will be accomplished by direct visualization with an FDA 510(k) device, the Lucid VivaScope 1500 (www.lucid-tech.com). This technology has been tested in controls and XLHED-affected males from the newborn period to adulthood without complication. An adhesive ring will be placed on the subject's palm to which the VivaScope will be attached via a magnetic lock. A series of photographs will be taken of an area approximately 6mm X 6mm. An individual trained in the use of this device will be involved in the acquisition of all images.
Measured: Annually up to age 10 years
Sweat function
Maximal sweating on the volar lower arm surface of each subject will be induced by pilocarpine iontophoresis followed by sweat collection using the Macroduct Sweat Collection System developed primarily for sweat collection and analysis in the diagnosis of Cystic Fibrosis from the newborn period on (www.wescor.com).
Following completion of the pilocarpine iontophoresis the Webster Sweat Inducer electrodes and discs are removed from the subject, the application site is wiped once with alcohol, and a Macroduct Sweat Collector is placed over the site of one electrode. The Macroduct Sweat Collector is held in place for approximately 30 minutes using a Velcro Macroduct Strap. Sweat volume is determined from microliter markings on a collection coil diagram. Sweat rate will be determined annually if positive findings were observed at the end of protocol ECP-002 and will continue until negative results are observed on two consecutive evaluations.
Measured: Annually up to age 10 years
Skin health
Skin examination and history of skin disorders will be evaluated at each annual visit by detailed physical exam and medical history.
Measured: Annually up to age 10 years
Hair growth
At the year 5 and 10 visits the total and anagen hair counts and follicular unit counts in the scalp will be determined from color macrophotographs of clipped hair in a 1 cm2 circular target area centered by a cosmetic ink dot. Hair in the target area will first be clipped to approximately a 1 mm length for determination of total hair count and hairs per follicular unit, and then clipped further to about 0.35 mm to monitor hair growth over the 2-3 day period between phototrichograms. The sponsor will provide all of the equipment necessary for photography and to cut the hair to the exact lengths specified. A second photogram will be taken approximately 2-3 days later for the determination of anagen and telogen hair counts, based on the number of hairs that have lengthened over the intervening time period, as well as hair properties including growth rate and hair width.
Measured: Change from baseline hair growth at 5 and 10 years
Respiratory health
Annual medical history and physical exam related to asthma, sinusitis, nosebleeds and nasal congestion will be evaluated annually. Pulmonary function testing (FVC and FEV1) will be performed on all subjects starting at age 5 years at a laboratory experienced with pediatric subjects. Additionally, levels of exhaled nitric oxide (eNO) as an indicator of pulmonary inflammation will be quantified non-invasively with an age-group appropriate device in all subjects age 5 years and older.
Measured: Annually up to age 10 years
Ocular health
The eye examination will be performed by an ophthalmologist experienced in assessments of tear film and ocular surface in infants as well as children and adults. The examination will document the presence/absence of signs of infection, inflammation and corneal irritation, as well as a tear film break-up time. For children 5 years or older the assessment will also include the Shirmer test for rate of tear production and the OCULAR SURFACE DISEASE INDEX© questionnaire.
Measured: Annually up to age 10 years
Number of participants with adverse events
The annual safety evaluations will consist of safety laboratory sampling, assessment of adverse events and concomitant medications, and a physical examination with vital signs.
Measured: Annually up to age 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Nov 2013 (estimated)
- Study startMar 2014
- Primary completionMar 2025 (estimated)
- Study completionMar 2025 (estimated)
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
- Other
- Time perspective
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Kenneth Huttner, MD, PhD, Study director, Edimer Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01992289
- Sponsor's protocol ID
- ECP-002e
- Other IDs
- 1R01FD005099-01
- Acronym
- ECP-002e
- Status last verified
- Aug 2017
- First submitted
- 12 Nov 2013
- Last updated
- 5 Sep 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
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
- Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
- ClinicalTrials.gov ID
- NCT01992289
- Acronym / sponsor ID
- ECP-002e / ECP-002e
- Keywords
- XLHED, HED, Hypohidrotic ectodermal dysplasia, Christ-Siemens-Touraine Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Mar 2014
- Primary completion
- Mar 2025 (estimated)
- Study completion
- Mar 2025 (estimated)
- First posted
- 25 Nov 2013 (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 goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. The efficacy evaluations will incorporate growth and development parameters, frequency of infections and hospitalizations, and age-appropriate assessments of ectoderm-derived organ function. The safety evaluations will include physical examinations, adverse events and concomitant medication documentation, and laboratory testing. Funding Source - FDA OOPD
Detailed description
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a disorder of ectoderm development in which sweat and other secretory gland hypoplasias predispose affected infants to serious and potentially life-threatening hyperthermia and pneumonia. Those XLHED patients who survive infancy face a host of ectoderm-related clinical conditions including failure to thrive, oligodontia and misshapen teeth, mid-face hypoplasia, eczema, chronic dry eyes, asthma, respiratory infections, sinusitis and chronic nosebleeds. XLHED is caused by inherited defects in the ectodysplasin gene (EDA, www.ncbi.nlm.nih.gov/omim) resulting in a deficiency of the ectoderm signaling protein EDA-A1. As is the general case with X-linked disorders, hemizygous XLHED males are more consistently and severely affected, while heterozygous XLHED females have a more variable phenotype.
In normal development, EDA-A1 acts as an ectoderm signaling molecule that binds specifically to the EDA-A1 receptor (EDAR) triggering initiation and maturation of ectodermal appendages into sweat and other secretory glands, tooth buds and hair follicles. In the case of XLHED, EDA-A1 deficiency results in the absence or functional hypoplasia of the ectoderm appendages. There are no therapies currently available for XLHED that prevent or correct the underlying ectodermal abnormalities.
EDI200 is a fully humanized EDA-A1 replacement molecule under development as a novel therapeutic for XLHED. EDI200 comprises the human IgG1 Fc domain linked to the human EDA-A1 receptor-binding domain. On-target EDI200 activation of the EDA-A1/EDAR signaling pathway in vivo is evidenced by the remarkable phenotypic response in preclinical models. In XLHED-affected animals, EDA-A1 deficiency is corrected by a single course of EDI200 therapy, administered either prenatally (mice) or postnatally (newborn mice and dogs), resulting in a significant and sustained improvement in the health of the treated animals. Postnatal studies in both mice and dogs demonstrated a consistent and restricted window of efficacy. These results support the clinical development of EDI200 as a therapeutic to be administered to XLHED-affected patients in the neonatal period or earlier.
ECP-002, a Phase 2, international, first-in-neonate EDI200 study is enrolling treatment-naïve, XLHED-affected male newborns in the first two weeks of life. All subjects will meet entry criteria including documentation of an EDA mutation associated with XLHED. Following Baseline evaluations, EDI200 dosing is initiated between day-of-life 2 and 14, with each study subject receiving a single course of study drug administered at 2 doses/week for a total of 5 doses. The treatment study protocol incorporates comprehensive safety, pharmacokinetic (PK), immunogenetic, and pharmacodynamic (PD)/efficacy evaluations continuing through age 6 months.
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. The efficacy evaluations will incorporate growth and development parameters, frequency of infections and hospitalizations, and age-appropriate assessments of ectoderm-derived organ function. The safety evaluations will include physical examinations, adverse events and concomitant medication documentation, and laboratory testing.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No treatment | – | Drug: EDI200This is a long-term follow-up study of subjects that received EDI200 as part of protocol ECP-002. |
Who may qualify
- Ages
- 6 months to 1 year
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- This is an open-label extension study without additional study drug administration on as many as 10 XLHED-affected males previously having received EDI200 in the ECP-002 trial. XLHED-affected male infants who completed the ECP-002 trial will be followed with yearly visits starting at age 1 year.
Key inclusion criteria (3 listed)
- Subject received at least one dose of EDI200 in the neonate study ECP-002
- Written informed consent of parent(s)
Key exclusion criteria (3 listed)
- Medically-significant postnatal complications or congenital anomalies outside of those considered to be associated with the diagnosis of XLHED
- Major protocol violations during enrollment in study ECP-002 as determined by the Sponsor
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EDI200Also: APO200Long-term follow-up study of subjects that received EDI200 as part of protocol ECP-002 | Drug | No treatment |
Primary outcome
Growth and development
Time frame: Annually up to age 10 years
Growth and development as compared with age-matched standards
Dentition
Time frame: Change from baseline dentition at 2, 5 and 10 years
Dentition assessed by dental examinations and radiographs at ages 2 yrs, 5 yrs, and 10 yrs
12 secondary outcomes
Mortality
Time frame: Annually up to age 10 years
Hospitalizations
Time frame: Annually up to age 10 years
Infections
Time frame: Annually up to age 10 years
Unexplained fevers
Time frame: Annually up to age 10 years
Heat intolerance
Time frame: Annually up to age 10 years
Sweat gland density
Time frame: Annually up to age 10 years
Sweat function
Time frame: Annually up to age 10 years
Skin health
Time frame: Annually up to age 10 years
Hair growth
Time frame: Change from baseline hair growth at 5 and 10 years
Respiratory health
Time frame: Annually up to age 10 years
Ocular health
Time frame: Annually up to age 10 years
Number of participants with adverse events
Time frame: Annually up to age 10 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2017.
- Individual participant dataSharing planned: Undecided
Related trials for X-linked Hypohidrotic Ectodermal Dysplasia
RecruitingPhase 2
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
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.
Kenneth Huttner, MD, PhD 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 3 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: status not confirmed, 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?
Results are not available in the source record.
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?
Growth and development (time frame: Annually up to age 10 years). 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.