Treatment for male fetuses with X-linked hypohidrotic ectodermal dysplasia using ER004

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

This study is testing a new treatment for male fetuses with a genetic condition called X-linked hypohidrotic ectodermal dysplasia to see if it can help them after they are born.

Quick facts

• Phase: Phase 2
• Study type: Interventional
• Enrollment: 20 (estimated)
• Ages: 18 Years and up
• Sex: Female
• Sponsor: EspeRare Foundation (Academic / other)
• Locations: 8 sites (Los Angeles, California and 7 other locations)
• Trial ID: NCT04980638 on ClinicalTrials.gov

What this trial studies

This Phase 2 clinical trial investigates the safety and efficacy of ER004, a signaling protein replacement, administered intraamniotically to male fetuses diagnosed with X-linked hypohidrotic ectodermal dysplasia (XLHED). The study is open-label and genotype-match controlled, focusing on a larger cohort to confirm previous findings. Eligible participants include male fetuses with confirmed EDA mutations and their mothers, who must also be carriers of the mutation. The trial aims to assess the treatment's effects up to six months after birth, while monitoring maternal safety for one month post-delivery.

Who should consider this trial

Good fit: Ideal candidates for this study are male fetuses diagnosed with XLHED and their mothers who are confirmed carriers of an EDA mutation.

Not a fit: Patients with other major anatomic anomalies unrelated to XLHED or those with active maternal infections may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could provide a corrective approach for XLHED, significantly improving the quality of life for affected individuals.

How similar studies have performed: While this approach is novel, previous studies have indicated potential success in using signaling protein replacements for similar genetic conditions.

Eligibility criteria

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.

Where this trial is running

Los Angeles, California and 7 other locations

• Cedars-Sinai Medical Center — Los Angeles, California, United States (Recruiting)
• Washington University — St Louis, Missouri, United States (Recruiting)
• Hôpital Necker - Enfants Malades — Paris, Paris, France (Recruiting)
• Universitaetsklinikum Erlangen — Erlangen, Bavaria, Germany (Recruiting)
• Universitaetsklinikum Leipzig AoeR — Leipzig, Saxony, Germany (Recruiting)
• IRCCS Ca' Granda Ospedale Policlinico — Milan, Italy (Recruiting)
• Hospital Universitario Virgen de la Arrixaca — El Palmar, Murcia, Spain (Recruiting)
• University Hospital of Wales Cardiff and Vale University Local Health — Cardiff, United Kingdom (Recruiting)

Study contacts

• Principal investigator: Holm Schneider, MD — University Erlangen-Nürnberg Erlangen, Germany
• Study coordinator: Agnes Jaulent

Conditions X-Linked Hypohidrotic Ectodermal Dysplasia