Recruiting
Phase 2

ER004

Sponsor:

EspeRare Foundation

Code:

NCT04980638

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Eligibility Criteria

Sex: Female

Age: 18+

Healthy Volunteers: Not accepted

Interventions

ER004

Study Details

Brief 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.

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Study ID

NCT04980638

Start date

Apr 26, 2022

Status verified date

Apr, 2025

Completion date

Dec, 2032

Anticipated

Primary completion date

Feb, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 18+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

20 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: ER004

Human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor binding domain fusion protein.

Interventions

ER004

Intra-amniotic route 100 mg/kg of estimated fetal weight per injection. 3 injections, approximately 3 weeks apart starting from gestational week 26

Primary outcome measure

  • Mean sweat volume [ Time Frame: at 6 months of age (corrected age for subjects born at < 37 weeks) ]

Central Contacts and Locations

Central contacts

Agnes Jaulent

+41 22 794 4004Info.er004@esperare.org

Marlène Guiraud

+33 5 34 50 60 00contact.edelife@pierre-fabre.com

Locations

Cedars-Sinai Medical Center

Recruiting

Los Angeles, California, United States, 90048

Contacts

(310)-423-8965ClinicalTrials@cshs.org

Washington University

Recruiting

St. Louis, Missouri, United States, 63110

Contacts

Dorothy Grange

grangedk@wustl.edu

More Information

Sponsor

EspeRare Foundation

Last update posted

Apr 30, 2025

Last verified

Apr, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by EspeRare Foundation on 2025-04-30.