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
EspeRare Foundation
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.
Description
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare developmental disease affecting body parts derived from the embryonal ectoderm. It is caused by a broad spectrum of mutations in the ectodysplasin A gene (EDA). The main symptoms of XLHED are hypo- or anhidrosis, oligo- or anodontia, and hypotrichosis. Current treatment options are limited to the management of disease symptoms and prevention of complications. Effective corrective treatment for XLHED remains a high unmet medical need. ER004 represents a first-in-class signaling protein replacement molecule designed for specific, high…
Eligibility
- Age range
- 18+ years
- Sex
- Female
- 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…
Interventions
- BiologicalER004
Intra-amniotic route 100 mg/kg of estimated fetal weight per injection. 3 injections, approximately 3 weeks apart starting from gestational week 26
Locations (8)
- Cedars-Sinai Medical CenterLos Angeles, California
- Washington UniversitySt Louis, Missouri
- Hôpital Necker - Enfants MaladesParis, Paris
- Universitaetsklinikum ErlangenErlangen, Bavaria
- Universitaetsklinikum Leipzig AoeRLeipzig, Saxony
- IRCCS Ca' Granda Ospedale PoliclinicoMilan