Vascular Ehlers-Danlos Syndrome (VEDS) is a rare disorder that weakens the body’s connective tissue. The connective tissue is responsible for supporting and strengthening the body’s bones, organs, and other tissues. When this tissue is weakened due to a genetic mutation in the gene COL3A1, it can cause a variety of symptoms and health complications. Type 4 EDS, also known as Vascular EDS (VEDS), is a particularly rare and serious form of EDS that can be life-threatening.
VEDS is caused by a mutation in the COL3A1 gene, which provides instructions for making a protein called type III collagen. This protein is a major component of the connective tissue in blood vessels, skin, and other organs. Mutations in the COL3A1 gene can result in the production of abnormal type III collagen, which can weaken the walls of blood vessels and other tissues, leading to potentially life-threatening complications.
Data on file estimates there are about 5,000 Americans with vEDS, and approximately 2,000 cases are known at this time.
Science 37 is a company that was established in 2014 to help accelerate clinical research and enable more representative participation. They help to operationalize, support, and execute clinical research studies. like the DiSCOVER Trial for Vascular Ehlers-Danlos Syndrome.
The core focus of Science 37 is to make the clinical research experience better for patients — they use a site-less, decentralized approach to conducting research that puts participants first. That’s why they make sure that any part of the research study that can be done remotely comes to you in your home. People join research studies to help move science forward, and their model allows you to spend more time participating in the research, not traveling to a research site.
Research studies help us determine whether new investigational drugs are safe and effective. The government has established many rules to help ensure that research studies are conducted in the most ethical and safe way possible and that participants are protected throughout. Participants receive specific interventions — which may be investigational medications, devices, or procedures— according to a research plan (protocol) developed by the scientists, physicians, and statisticians.
Volunteers are part of the next wave of science and can influence the future of medicine. Advances in research have allowed people to get personalized cancer treatment, be vaccinated for polio, have less invasive tests, manage their diabetes, and countless other developments. These breakthroughs wouldn’t be possible without volunteers. People volunteer to help others by contributing to medical knowledge, getting more involved in their own health care, learning about their condition, joining a community, and getting support. You’ll learn about all the potential benefits and risks of joining the DiSCOVER Trial to evaluate celiprolol to treat Vascular Ehlers-Danlos Syndrome, during the informed consent process.
You can always share information about the research study with your primary doctor or healthcare provider. You should continue to see your doctor throughout the VEDS research study for routine visits and tests. Our study team is available to talk to both you and your doctor if there are any concerns or questions. Working together helps to ensure that other medications or treatments you receive will not be a problem with the research study protocol. However, because these studies are investigational, the result of the study will not be available to individual patients.
There is no cost to participate, and many research studies offer reimbursement for your time and effort. Compensation depends on the research study and is discussed during the informed consent process.
Research studies are designed by a team of scientists, physicians, and statisticians. The duration of a research study varies depending on the protocol that this team develops. When you learn about a research study, you will be informed about the time commitment needed before you agree to participate in the study.
After the first portion of the study is complete, there will be an option to continue in another similar study in which all patients will receive celiprolol. This portion will be similar to the previous part of the study
Science 37 research studies are designed to make participation easier for you. Where permitted, study supplies are shipped directly to your home. If you have any problems with receiving the supplies, you will be able to contact the study team at any time. The Science 37 app on your smartphone will keep you connected to the study team and ensure that you know what to do, and when to do it. The app displays your personalized study calendar and sends you reminders and notifications.
Besides talking to the study staff, you should minimize sharing your experience in the research study with others. We understand that talking about your experience is an important part of feeling supported, but we ask that you not share information about the research study on social media or with other research study participants. This helps to ensure the most valid and highest-quality scientific results. Our study team is always available to address your questions and concerns.
You can leave the research study at any time and for any reason. You are under no obligation to complete a research study or give a reason why you’re leaving one. Although we do our best to make our research studies as easy as possible for you to take part in, we understand that there are many reasons why finishing may not be possible.
After you complete the research study, the study team will talk with you to answer your questions and get your feedback on your overall experience during the DiSCOVER trial. As a Science 37 research study participant, you will have access to news and updates about medical discoveries, educational content, and future research opportunities. You will continue to see your local primary doctor or healthcare provider for routine medical care.
The symptoms of Type 4 Vascular Ehlers-Danlos Syndrome can vary from person to person, and some people may have milder symptoms than others. However, there are several common symptoms that are associated with this condition:
- Ruptured arteries
- Ruptured intestines
- Ruptured uterus during pregnancy
- Collapsed lung
- Dislocated hip in newborns
- Family history of Vascular Ehlers-Danlos Syndrome
Visual markers can be seen across VEDS patients. These visual VEDS symptoms include:
- Large eyes that protrude
- Eye swelling and abnormal vision
- Thin nose
- Receding gums
- Small jaw
- Easy bruising
- Thin pale skin
- Hands that look older than they are
- Small joints that are unusually mobile
- Early onset varicose veins
- Chronic joint dislocations
- Club foot