Actively Recruiting

Phase 2
Age: 18Years +
FEMALE
NCT04980638

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

Led by EspeRare Foundation · Updated on 2025-04-30

20

Participants Needed

8

Research Sites

553 weeks

Total Duration

On this page

Sponsors

E

EspeRare Foundation

Lead Sponsor

P

Pierre Fabre Medicament

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

Age: 18Years +
FEMALE

Eligibility Criteria

Eligible

You may qualify if you...

  • Adult pregnant woman with confirmed pregnancy no later than 23 weeks and 6 days and genetically confirmed as carrier of an EDA mutation
  • Male fetus with confirmed diagnosis of X-linked hypohidrotic ectodermal dysplasia (XLHED)
  • Untreated male relative subject aged between 6 months and 75 years with the same EDA mutation as the treated subject
Not Eligible

You will not qualify if you...

  • Active maternal infection linked to risk of preterm birth or congenital anomalies
  • Documented maternal HIV infection
  • Pre-existing maternal medical conditions increasing risk of preterm birth or serious pregnancy complications
  • Pregnancy disorders with increased risk of preterm birth or maternal, fetal, or neonatal morbidity/mortality
  • Fetal major anatomical anomalies unrelated to XLHED that increase morbidity or mortality risk
  • Echocardiogram, ultrasound, or other findings indicating high risk of fetal demise or preterm birth
  • Conditions other than XLHED affecting tooth germ number
  • Medical conditions that prevent safe study conduct or interfere with efficacy assessments
  • Untreated relative carriers of hypomorphic EDA mutation
  • Known allergy to pilocarpine or similar drugs
  • Presence of implanted devices like defibrillators or pacemakers
  • Previous treatment with study drug before trial start

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 8 locations

1

Cedars-Sinai Medical Center

Los Angeles, California, United States, 90048

Actively Recruiting

2

Washington University

St Louis, Missouri, United States, 63110

Actively Recruiting

3

Hôpital Necker - Enfants Malades

Paris, Paris, France, 75743

Actively Recruiting

4

Universitaetsklinikum Erlangen

Erlangen, Bavaria, Germany, 91054

Actively Recruiting

5

Universitaetsklinikum Leipzig AoeR

Leipzig, Saxony, Germany, 04103

Actively Recruiting

6

IRCCS Ca' Granda Ospedale Policlinico

Milan, Italy, 20122

Actively Recruiting

7

Hospital Universitario Virgen de la Arrixaca

El Palmar, Murcia, Spain, 30120

Actively Recruiting

8

University Hospital of Wales Cardiff and Vale University Local Health

Cardiff, United Kingdom, CF14 4XW

Actively Recruiting

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Research Team

A

Agnes Jaulent

CONTACT

M

Marlène Guiraud

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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