ER004: Intra-amniotic route 100 mg/kg of estimated fetal weight per injection. 3 injections, approximately 3 weeks apart starting from gestational week 26
Study summary
This is an open-label, prospective, genotype-match controlled for primary estimand, non randomized, multicenter, international Phase 2 clinical trial designed to investigate the efficacy and safety of ER004 administered intraamniotically as a treatment for unborn XLHED male subjects.
Eligibility
Sex
FEMALE
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
For mother: adult mother with confirmed pregnancy no later than week 23+6 and genetically confirmed as carrier of an EDA mutation
* For fetal subject : male fetal subject with confirmed diagnosis of XLHED
* For untreated relative: untreated male relative subject aged between 6 months and 75 years with the same EDA mutation as the treated subject
Exclusion Criteria:
* For mother: any evidence of active maternal infection associated with a risk of preterm birth and/or congenital anomalies of prenatal and postnatal risk to the child. Documented maternal HIV infection. Any pre-existing maternal medical condition that increases the risk of preterm birth or increases the risk of a serious untoward event occurring to the mother during pregnancy. Any pregnancy disorder associated with an increased risk of preterm birth, and/or maternal, fetal or neonatal morbidity/mortality.
* For fetal subject : second major anatomic anomaly (not related to the underlying XLHED) that contributes to a significant morbidity or mortality risk, or echocardiogram or ultrasonography or other findings that indicate a high risk of fetal demise or risk of preterm birth. Any condition other than XLHED that is likely to have an impact on the number of tooth germs. Any other medical condition which in the opinion of the investigator would not allow for safe conduct of the study for the subject, or that would interfere with efficacy assessments.
* For untreated relative: carrier of an hypomorphic EDA mutation. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists. Presence of an implanted device (e.g., defibrillator, neurostimulator, pacemaker). Previous treatment with the study intervention by any route of administration prior to study start.
Primary outcome measure(s)
Mean sweat volume — at 6 months of age (corrected age for subjects born at < 37 weeks) For treated subject, mean sweat volume is collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating)
Trial sites (8)
Facility
City
Region
Status
Cedars-Sinai Medical Center
Los Angeles
California
Recruiting
Washington University
St Louis
Missouri
Recruiting
Hôpital Necker - Enfants Malades
Paris
Paris
Recruiting
Universitaetsklinikum Erlangen
Erlangen
Bavaria
Recruiting
Universitaetsklinikum Leipzig AoeR
Leipzig
Saxony
Recruiting
IRCCS Ca' Granda Ospedale Policlinico
Milan
Italy
Recruiting
Hospital Universitario Virgen de la Arrixaca
El Palmar
Murcia
Recruiting
University Hospital of Wales Cardiff and Vale University Local Health
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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