Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
This study is investigating a new treatment called ER004 for unborn baby boys who have been diagnosed with a rare genetic condition called X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), whilst they are still in the womb. XLHED affects how parts of the body like skin, hair, teeth, and sweat glands develop. Currently, treatments mainly manage symptoms, so there's a big need for something that addresses the root cause. ER004 is designed to replace a missing protein that causes XLHED. Researchers want to see if giving this medicine before birth can help the baby's development. The study will look at how safe ER004 is for both the baby and the mother, and how well it works, by comparing treated babies to family members with the same condition or to past cases.
במבט חטוף
על מה המחקר הזה?
X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) is a rare condition that affects how certain parts of the body develop, such as the skin, hair, teeth, and sweat glands. This is because a specific protein, called EDA, isn't working properly or is completely missing. People with XLHED often have trouble sweating, have fewer or misshaped teeth, and sparse hair. While there are ways to manage the symptoms, doctors are looking for a treatment that can help address the problem before it fully develops.
This study is testing a new medicine called ER004. ER004 is designed to act like the missing EDA protein, helping the body to develop more typically. The idea is to give this medicine to baby boys with XLHED while they are still in the womb, specifically by injecting it into the fluid surrounding the baby (the amniotic fluid). The hope is that giving ER004 at this early stage could help improve the development of their sweat glands, teeth, and hair.
This is a 'Phase 2' study, meaning researchers are further investigating whether ER004 is both safe and effective. They will closely monitor the health of the mothers and babies over a long period. They will also compare the development of the treated babies, especially their ability to sweat, with family members who have XLHED but weren't treated, or with information from other children with XLHED who haven't had this treatment. This will help them understand the potential impact of ER004.
נקודות עיקריות
- Tests a new medicine (ER004) for baby boys with XLHED before they're born.
- Aims to help develop sweat glands, teeth, and hair.
- Involves an injection into the fluid surrounding the baby in the womb.
- Will monitor the health of both mother and child for several years.
- Compares treated babies with family members who have XLHED but were not treated.
- ההשתתפות היא בהתנדבות, ואתה יכול לפרוש בכל עת.
מי עשוי להיות זכאי?
To join this study, the **mother** must be an adult with a confirmed pregnancy before 24 weeks and already known to carry the genetic change linked to XLHED. The **unborn baby** must be a boy with a confirmed diagnosis of XLHED, which is typically found through genetic tests and sometimes by ultrasound scans looking at early tooth development.
There are also specific reasons why someone might *not* be able to take part. For **mothers**, this includes having active infections that could harm the baby or lead to an early birth, having certain existing health conditions, or any pregnancy problem that increases risks for her or the baby. For the **unborn baby**, they cannot have other major health problems unrelated to XLHED that could put them at high risk or interfere with how the study works.
Additionally, the study is comparing treated babies to **untreated male relatives** who also have the same XLHED genetic change, if available, between 6 months and 75 years old. These relatives cannot have certain allergies or medical devices, or have previously received the study drug, to be eligible for comparison.
האם מחקר זה יכול להתאים לך?
ענה על השאלות המהירות הללו כדי לבדוק אם אתה עשוי להיות זכאי. זהו מדריך בלבד — צוות המחקר מקבל את ההחלטה הסופית.
- Are you an adult woman with a confirmed pregnancy before 24 weeks?
- Have you been genetically diagnosed as a carrier for XLHED?
- Has your unborn baby been diagnosed as a boy with XLHED?
- Does your baby *not* have other major health issues unrelated to XLHED?
- Do you *not* have active infections or serious pre-existing health conditions?
מה כרוך בהשתתפות?
If you decide to take part, the mother will receive the ER004 medicine for her unborn baby by injection into the amniotic fluid (the fluid around the baby in the womb). This procedure will be performed by a specialist doctor. After the treatment, both the mother and baby will be closely monitored.
For the mother, her health will be checked regularly until about one month after the baby is born. For the baby, their health and development, including their ability to sweat, will be checked frequently up to 6 months of age. Then, there will be a longer-term follow-up phase where the child's health and development will continue to be monitored until they are 5 years old. The total duration of active follow-up for the child is 5 years. There will be several hospital visits for check-ups, scans, and assessments during this time.
סיכונים ותועלות פוטנציאליים
מיקומים (8)
- Cedars-Sinai Medical Centerמיקוד מאומתלוס אנג'לס, ארצות הברית· גיוס
- אוניברסיטת וושינגטוןמיקוד מאומתסנט לואיס, ארצות הברית· גיוס
- Hôpital Necker - Enfants Maladesמיקוד מאומתפריז, צרפת· גיוס
- Universitaetsklinikum Erlangenמיקוד מאומתארלנגן, גרמניה· גיוס
- Universitaetsklinikum Leipzig AoeRמיקוד מאומתלייפציג, גרמניה· גיוס
- IRCCS Ca' Granda Ospedale Policlinicoמיקוד מאומתמילאנו, איטליה· גיוס
- Hospital Universitario Virgen de la Arrixacaמיקוד מאומתEl Palmar, Spain· גיוס
- University Hospital of Wales Cardiff and Vale University Local Healthמיקוד מאומתCardiff, United Kingdom· גיוס
שאלות נפוצות
What is X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)?
It's a rare genetic condition mostly affecting boys, causing problems with the development of skin, hair, teeth, and sweat glands.
What is ER004 and how is it given?
ER004 is a new medicine designed to replace a missing protein in XLHED. It is given by injecting it into the fluid around the baby in the womb.
Will my baby be cured if they receive ER004?
This study aims to investigate if ER004 can improve the condition's effects. It's not yet known if it can provide a 'cure', as the treatment is still in development.
How long will my child be followed up if we participate?
The study will actively monitor your child's health and development for up to 5 years after birth.
מה אם אשנה את דעתי לאחר ההצטרפות?
You are free to withdraw your consent and leave the study at any time, for any reason, without it affecting your or your child's medical care.
כיצד לגלות עוד
Agnes Jaulent
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