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

Launched by ESPERARE FOUNDATION · Jul 22, 2021

Keywords

ClinConnect Summary

This clinical trial is exploring the safety and effectiveness of a treatment called ER004 for unborn boys diagnosed with X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a genetic condition that affects skin and tooth development. The study involves giving the treatment directly into the amniotic fluid surrounding the baby before birth. It is currently looking for participants, specifically adult mothers who are pregnant and confirmed carriers of a gene mutation linked to XLHED, and their unborn male babies who have been diagnosed with this condition.

To participate, mothers must be pregnant by at least 23 weeks and have a confirmed EDA mutation. Additionally, there may be opportunities for untreated male relatives of the baby, aged 6 months to 75 years, who share the same genetic mutation. Participants in this trial will be closely monitored to assess how well the treatment works and if there are any side effects. It's important to note that mothers with certain health issues or complications during pregnancy may not be eligible to join the study. This trial aims to provide valuable information that could improve care for boys with XLHED in the future.

Gender

FEMALE

Eligibility criteria

• 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.