Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Holm Schneider, Florian Faschingbauer, Sonia Schuepbach-Mallepell...
https://pubmed.ncbi.nlm.nih.gov/29694819Actively Recruiting
Phase 2
Age: 18Years +
FEMALE
ID04980638
A Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED
Led by EspeRare Foundation · Updated on 2025-04-30
20
Participants Needed
8
Research Sites
304 weeks
Total Duration
On this page
Sponsors
E
EspeRare Foundation
Lead Sponsor
P
Pierre Fabre Medicament
Collaborating Sponsor
AI-Summary
What this Trial Is About
This clinical trial investigates the use of ER004 as a prenatal treatment for male fetuses diagnosed with X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare developmental disorder affecting skin, teeth, and sweat glands caused by mutations in the ectodysplasin A gene. The study is an open-label, prospective, non-randomized Phase 2 trial conducted internationally across multiple centers, aiming to confirm the safety and effectiveness of ER004 administered before birth. This trial addresses a critical unmet medical need since current treatments only manage symptoms without correcting the underlying cause. ER004 is a biologic protein designed to replace the missing EDA1 protein in affected individuals. The treatment involves three intra-amniotic injections given approximately three weeks apart starting from the 26th week of pregnancy, dosed based on estimated fetal weight. The trial includes a genotype-matched control group for comparison. The main study phase assesses efficacy and safety up to 6 months after birth, with a long-term follow-up extending assessments up to 5 years of age. Participants and their mothers undergo various evaluations including sweat volume measurements at 6 months, dental development, sweat pore density, ocular surface assessments, and monitoring for adverse events throughout the study period. Mothers are followed for safety up to one month after delivery. The trial compares treated subjects' sweating ability to that of untreated relatives or matched controls. The extensive follow-up includes assessments of hospitalizations, eczema, salivation, and ocular health, ensuring comprehensive monitoring over five years.
CONDITIONS
Brief Title
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
Who Can Participate
Age: 18Years +
FEMALE
Eligibility Criteria
You may qualify if you...
- Adult mother with confirmed pregnancy no later than week 23+6 and genetically confirmed as carrier of an EDA mutation
- Male fetal subject with confirmed diagnosis of X-linked hypohidrotic ectodermal dysplasia (XLHED)
- Untreated male relative subject aged between 6 months and 75 years with the same EDA mutation as the treated subject
You will not qualify if you...
- Active maternal infection with risk of preterm birth or congenital anomalies
- Documented maternal HIV infection
- Maternal medical conditions increasing risk of preterm birth or serious events during pregnancy
- Pregnancy disorders associated with increased risk of preterm birth or maternal, fetal, or neonatal complications
- Fetal major anatomic anomalies unrelated to XLHED that increase morbidity or mortality risk
- Echocardiogram, ultrasonography, or other findings indicating high risk of fetal demise or preterm birth
- Conditions other than XLHED likely to impact tooth germ number
- Any medical condition judged unsafe for study participation or interfering with efficacy assessments
- Untreated relative who is a carrier of a hypomorphic EDA mutation
- Known hypersensitivity to pilocarpine or similar muscarinic agonists
- Presence of implanted devices like defibrillators, neurostimulators, or pacemakers
- Previous treatment with the study intervention prior to study start
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Treatment
Duration - Approximately 6 weeks
Participants receive 3 intra-amniotic injections of ER004, each approximately 3 weeks apart starting from gestational week 26.
3 treatment visits (in-person)
Follow-up
Duration - Up to 6 months after birth
Participants are followed to assess efficacy and safety up to 6 months of age; mothers are monitored for safety up to 1 month after delivery.
Multiple visits during the first 6 months of age
Long-term Monitoring
Duration - Up to 5 years
Participants are monitored for long-term efficacy and safety outcomes up to 5 years of age.
Periodic visits up to 5 years of age
Trial Site Locations
Total: 8 locations
1
Cedars-Sinai Medical Center
Los Angeles, California, United States, 90048
Actively Recruiting
2
Washington University
St Louis, Missouri, United States, 63110
Actively Recruiting
3
Hôpital Necker - Enfants Malades
Paris, Paris, France, 75743
Actively Recruiting
4
Universitaetsklinikum Erlangen
Erlangen, Bavaria, Germany, 91054
Actively Recruiting
5
Universitaetsklinikum Leipzig AoeR
Leipzig, Saxony, Germany, 04103
Actively Recruiting
6
IRCCS Ca' Granda Ospedale Policlinico
Milan, Italy, 20122
Actively Recruiting
7
Hospital Universitario Virgen de la Arrixaca
El Palmar, Murcia, Spain, 30120
Actively Recruiting
8
University Hospital of Wales Cardiff and Vale University Local Health
Cardiff, United Kingdom, CF14 4XW
Actively Recruiting
Loading map...
Research Team
A
Agnes Jaulent
M
Marlène Guiraud
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer...
https://pubmed.ncbi.nlm.nih.gov/36672894A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Holm Schneider, Christine Schweikl, Florian Faschingbauer...
https://pubmed.ncbi.nlm.nih.gov/37108325