Ongoing Clinical Trials for Congenital Ectodermal Dysplasia
There is currently 1 ongoing clinical trial investigating treatment for congenital ectodermal dysplasia. This trial focuses on a prenatal therapy for X-linked hypohidrotic ectodermal dysplasia (XLHED), a genetic condition that affects the development of sweat glands, teeth, hair, and skin. The investigational treatment, called ER004, is being tested in male fetuses diagnosed before birth across multiple European countries.
Clinical trial locations
- France
- Germany
- Italy
- Spain
Study on ER004 for Treating Boys with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)
This trial is investigating a prenatal treatment approach for X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition that affects the development of sweat glands, teeth, hair, and skin. The most significant feature of XLHED is the reduced or absent ability to sweat, which can lead to dangerous overheating, along with sparse hair and missing teeth.
Main inclusion criteria: To participate in this study, several requirements must be met. The mother must be an adult who is pregnant with a male fetus, with the pregnancy confirmed no later than 23 weeks and 6 days. She must be a confirmed genetic carrier of an EDA mutation, which is the genetic change responsible for XLHED. The male fetus must have a confirmed diagnosis of XLHED through genetic testing. Additionally, there must be an untreated male relative between 6 months and 75 years old who has the same EDA mutation, as this person will serve as a comparison for the treatment’s effectiveness.
Main exclusion criteria: This study is specifically for male fetuses with XLHED, so female fetuses cannot participate. Only those with a confirmed diagnosis of XLHED and a specific type of genetic mutation called a null mutation in the EDA gene are eligible. The study focuses on infants who will be assessed at 6 months of age, so participants must meet the age requirement at the time of evaluation.
Focus and goal: The primary goal of this trial is to evaluate whether prenatal treatment with ER004 can improve the ability to sweat in boys born with XLHED. The main measurement will be taken when the treated infant reaches 6 months of age, when researchers will measure the amount of sweat produced on both forearms after stimulating the skin with a substance called pilocarpine. This will be compared with the sweating ability of an untreated family member who has the same genetic mutation. Secondary goals include assessing sweat pore density on the soles of the feet, counting erupted teeth and tooth buds to evaluate dental development, and examining other symptoms such as dry eyes, reduced saliva production, and eczema. The study will also monitor the number of hospitalizations related to XLHED, the safety and tolerability of the treatment, and the overall quality of life for affected children.
Investigational drug: The treatment being tested is called ER004, which is a type of gene therapy. It is administered as an injection directly into the amniotic fluid surrounding the fetus during pregnancy, a method called intra-amniotic injection. ER004 works by targeting the EDA gene, which is responsible for the development of tissues affected in XLHED, including sweat glands. The treatment is given before birth with the hope that it will improve the development of these tissues and reduce symptoms after the baby is born. The trial began recruiting participants in January 2022 and is expected to continue until January 2030.
Summary
Currently, there is one active clinical trial for congenital ectodermal dysplasia, specifically targeting X-linked hypohidrotic ectodermal dysplasia. This trial represents a pioneering approach by testing a prenatal treatment that aims to address the condition before birth. The trial is being conducted across four European countries: France, Germany, Italy, and Spain, providing access to this experimental therapy for families in multiple locations. The focus on ER004, a gene therapy administered before birth, represents an innovative strategy to potentially improve outcomes for boys diagnosed with this genetic condition while still in the womb. Families interested in this trial should note that participation requires early diagnosis during pregnancy and genetic confirmation of both the mother’s carrier status and the fetus’s condition.