Intra-Amniotic ER004 as a Prenatal Treatment for Males With X-linked Hypohidrotic Ectodermal Dysplasia

What is the Purpose of this Study?

The purpose of this study is to assess the effectiveness and safety of intra-amniotic administrations (injection into amniotic fluid) of an experimental drug called ER004 in male fetuses with X-linked hypohidrotic ectodermal dysplasia (XLHED). XLHED is a rare genetic disorder that affects sweat glands, skin, hair, and teeth; it is diagnosed by molecular genetic testing of the mother’s DNA. Treatment before birth (prenatal treatment) with ER004 has the potential to prevent or at least significantly reduce the severity of XLHED symptoms and may enable people living with this condition to experience an improvement in their quality of life. During normal development of a baby in the womb, the baby secretes a protein called EDA-1. This protein helps a baby’s skin, teeth, hair, and sweat glands develop properly. EDA-1 is missing or non-functioning in XLHED-affected boys. The study drug (ER004) is a protein that is grown in a laboratory and has been designed to resemble EDA-1. Given at the right time during the baby’s development in the womb, ER004 should substitute the missing EDA-1 and trigger the mechanism that leads to the normal development of a baby’s skin, teeth, hair, and sweat glands. ER004 is injected 3 times into the amniotic fluid surrounding the fetus towards the end of the second trimester and during the third trimester of pregnancy. Previous studies have validated how ER004 may work in fetuses. ER004 treatment may improve the chances of the fetus developing functional sweat glands, which are essential for regulating the body’s temperature and improving some other key XLHED symptoms (teeth, eyes glands and salivation).


Eligibility

  • 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
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Where can I participate?

Beverly

More about this Clinical Trial

What is the full name of this clinical trial?

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 X-linked hypohidrotic ectodermal dysplasia

Study Details
Disease Type/Condition

Other

Principal Investigator

Klein, Ophir

Co-Investigators

Pedro Sanchez

Age Group

Children

Phase

II

IRB Number

STUDY00003194

ClinicalTrials.gov ID

NCT04980638

Key Eligibility
ClinicalTrials.gov

How do I learn more about this study?
Email
clinicaltrials@cshs.org
Study Detail
Disease Type/Condition

Other

Principal Investigator

Klein, Ophir

Age Group

Children

Phase

II

IRB Number

ER004-CLIN01-F60082AI201

ClinicalTrials.gov ID

NCT04980638

Key Eligibility
ClinicalTrials.gov

Contact
Email
clinicaltrials@cshs.org