Studies & Trials

Even if you or your loved one are not located near a trial/study center, you or the treating doctor are encouraged to talk to one of the researchers involved in a trial/study before treatment. This will allow you to benefit from some of the leading research in the fast-changing world of ECD treatments.

Studies

ECD research involves observational studies and clinical trials. Observational studies do not test treatments but rather observe patients and their outcomes over time to develop a hypothesis that may then be tested through a clinical trial. Both observational studies and clinical trials need patients to become involved to perform the research necessary to learn more about ECD. A registry is a kind of observational study that often collects very detailed information about patients.

Clinical Trials

There are currently clinical trials open for ECD treatment. The advantages to a patient for entering a trial include:

1. Treatment, or portions of the treatment, might be provided free to the patient. (Sometimes, testing and travel may also be provided during the trial. Patients should always ask what costs are included in the trial.)
2. Follow-up appointments are very thorough, and side effects are closely monitored and treated. (Where there are known side effects of treatment, the trial protocols are set up to take immediate action should these be encountered.)
3. Often, if a patient begins treatment outside of a trial using a particular drug, the patient may be ineligible to enter a trial for that particular treatment later. For this reason, it is often advantageous to ask about trials before beginning treatment. However, any patient interested in entering a trial is encouraged to ask whether they are eligible at any time, no matter their circumstances.

Advantages to the ECD community as a whole when a patient is entered into a trial include:

1. Trials can lead to FDA/governmental approval for the treatment of ECD. With government approval, payers will be more likely to approve payment for the treatment.
2. With a limited number of ECD patients, it is very important that data on the treatment be captured centrally to aid in the understanding of things such as (a) how effective the treatment is and under what circumstances, (b) how long should patients be kept on the treatment, (c) what, if any, indicators exist for possible treatment issues that might arise, etc.

Learn More About Clinical Trials

New drugs in the United States are tested in clinical trials (research studies) to determine that they are safe, can successfully treat a particular medical condition, and what the suggested dosage should be. The US Food and Drug Administration (FDA) reviews the clinical trial results to determine if the drug is a safe and effective treatment. When the FDA approves a treatment for a particular condition, access to that treatment becomes much easier for the majority of patients. Similar processes are used in other countries.

Clinical trials are a key research tool for advancing medical knowledge and patient care. ECD Clinical trials determine whether a treatment is safe and effective for ECD patients. Clinical trials produce the best data available for healthcare decision-making.

Purpose

The purpose of clinical trials is to test a medication in a very detailed way that is the same for all participants, so the studies follow strict scientific standards. These standards protect patients and help produce reliable study results. A clinical trial protocol describes what types of patients can participate in the research, in other words, who is eligible. Each trial must include only people who fit the stated parameters for that study (the eligibility criteria). Eligibility criteria differ from trial to trial. They include factors such as a patient’s age, the type and stage of the disease, and whether the patient has had specific treatments or has other health problems.

What to Expect

During a clinical trial, doctors, nurses, social workers, and other healthcare providers might be part of your treatment team. They will monitor your health closely. You may have more tests and medical exams than you would have if you had not participated in a clinical trial. Some people will need to travel or stay in hospitals to participate in clinical trials. ECD Clinical trials are currently occurring in medical centers and doctors’ offices in the US and Europe. Nearly all of the time, clinical trials provide the medication free of charge, however the rest of medical care (visits, scans, blood draws) are billed to insurance in countries where health care is paid for by insurance (such as the US). It is very rare for ECD clinical trials to provide financial support for travel and accommodation so one should expect to pay for these themselves or seek assistance from charitable foundations.

Benefits

Taking part in a clinical trial can have many benefits. For example, you may gain access to new treatments that are not widely available or that may not be available at all outside of a trial. If a new treatment is proven to work and you’re in the group getting it, you might be among the first to benefit. You also will have the support of a team of healthcare providers, who will likely monitor your health closely.

Help Others

Even if you don’t directly benefit from the results of the clinical trial you take part in, the information gathered can help others and add to scientific knowledge. People who take part in clinical trials are vital to the process of improving medical care. Many people volunteer because they want to help others.

Clinical trials do have risks and some downsides, such as the following.

• The new strategies and treatments being studied aren’t always better than the current standard of care.
• Even if a new approach benefits some participants, it may not work for you.
• A new treatment may have side effects or risks doctors don’t know about or expect.
• Health insurance and providers do not typically cover patient care costs for clinical trials. If you’re considering taking part in a clinical trial, find out ahead of time about costs and coverage for the treatment and travel to the medical center.

You should learn about the risks and benefits of any clinical trial before you agree to take part in the trial. Talk with your doctor about specific trials you are interested in.

Once the FDA is satisfied that the drug works and is safe, it and the drug maker create a report called the drug label. This report provides very specific information about the drug. The FDA approves the report (label), which provides the necessary information to health professionals who prescribe or sell the drug.

Off-Label Drug Use

In the US, when a drug is used in a way that is different from that described in the FDA-approved drug label, it’s said to be an “off-label” use. This can mean that the drug is:

• Used for a different disease or medical condition
• Given in a different way (such as by a different route)
• Given in a different dose than in the approved label

Some ECD treatments are FDA-approved, and some are not. Those that are not approved for ECD are considered off-label use. Off-label ECD treatments are treatments that are approved for use for other diseases but are not approved for ECD treatment. This is legal in the United States and many other countries. Off-label drug use is common in the treatment of rare diseases.

The biggest problem with off-label drug use is obtaining approval from a payer (insurance company) to reimburse for off-label drug use. Many insurance companies will not pay for an expensive drug that’s used in a way that’s not listed on the approved drug label. They do this on the grounds that its use is “experimental” or “investigative.” This financial burden can place an enormous strain on patients and families, especially when the cost of off-label treatments runs very high.

In cancer treatment, these issues have been largely addressed through 1993 federal legislation that requires insurance to cover medically appropriate cancer therapies. This law includes off-label uses if the treatment has been tested in careful research studies and described in well-respected drug reference books or medical journals. In 2008, Medicare rules were changed to cover more off-label uses of cancer treatment drugs.

Still, health insurance coverage laws and regulations are complex. If your doctor is thinking about off-label drug use, you and your doctor should carefully check your health plan’s coverage. Different insurance payers have different approaches to paying for off-label medications and will approve or deny requests based on sets of requirements that will vary from one insurance to another. If you are denied coverage, it might help if the doctor sends the insurer copies of peer-reviewed journal articles or other respected sources that support the off-label use. The ECD Global Alliance is happy to help medical teams with this. (Please see our page Filing Payer Appeals.)

Last Updated: 03/17/2026

Current Open ECD Studies & Trials