Phase 2 Study of ER004 Injections into the Amniotic Sac to Treat Unborn Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

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.

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia