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Clinical Trials in Germany / NCT04980638
Recruiting Phase 2

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

NCT04980638 · tracked via the Priya Life Science Germany tracker
Sponsor
EspeRare Foundation
Phase
Phase 2
Started
2022-04-26
Last updated
2025-04-30

Condition(s) studied

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Investigational drug(s) / intervention(s)

ER004

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)

Trial sites (8)

FacilityCityRegionStatus
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 Cardiff United Kingdom Recruiting

Other trials for the same condition

Official registry record

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.

View NCT04980638 on ClinicalTrials.gov ↗ ← All trials in Germany