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

Recruiting now · Phase 2

Conditions studied: X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

In brief

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.

Key facts

Study ID

NCT04980638

Run by

EspeRare Foundation

People needed

20

Starts

2022-04-26

Expected to finish

2032-12-01

Last updated by the study team

2025-04-30

Who can join

Age: 18 and older. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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 it is running

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

Full record on ClinicalTrials.gov

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