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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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.
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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