First thing’s first: What is clinical research?

Clinical research is a scientific investigation about human beings. It can be “interventional” (like the search for a new medicine) or “observational” (like filling out a questionnaire). Clinical research also involves people (no mice here!). Most of what we know about medicine, and all of the treatments we use, are the result of clinical research.

To make sure that people in a study are respected and treated fairly, clinical research has many different rules and regulations. For example, if a patient or family is asked to join a study, they can refuse or say no. Participants and their families have to consent, or agree, to be a part of the research. This has to be voluntary, which means that people have to choose on their own if they would like to participate, even if it’s being run by their doctor.

How do I know the research is safe?

All studies involving human beings must be reviewed by an institutional review board (IRB in researcher-speak). All hospitals and universities that do research have an IRB. It’s the IRB’s job to make sure that researchers follow all the rules about research with people. Sometimes, the IRB asks for changes to be made to the study to make sure that participants are better protected. This can make the study start later or go more slowly. Also, every group or institution that joins the study has to get approval from their own IRB, which takes time.

The FDA (Food and Drug Administration) watches over clinical trials and creates some of the rules for how these studies are run. The FDA is in charge of saying yes or no to any new drug, and researchers have to get approval from both the FDA and the IRB before starting a clinical trial.

The FDA makes the final decision as to whether the new drug can be sold in the U.S. They look at the results from all of the studies and decide if the medication is safe, and if it works.

There are many ethical rules designed to protect people that are participating in research. These make sure that:

  • Consent is voluntary (i.e., the person chose and agreed on their own to be a part of the study).
  • Any possible harm to participants is made as unlikely as possible.
  • Researchers use the right study design to answer the questions being asked by the study.
  • Participants can choose to stop participating in the research at any time.

OK, what’s a clinical trial?

A clinical trial is an important part of making a new medicine. After scientists and researchers spend many years coming up with a new medicine and testing it in mice or other animals, they may get to the point of trying the medicine in people. When this point is reached, it’s called a clinical trial and these trials have three phases.

The first round of studies in people is called Phase I. These make sure that the medicine is safe.  To do this, researchers use many different tests, like blood tests or urine tests, to make sure that the people taking the medicine stay healthy.

In Phase II, the medicine is tested for efficacy, which means that researchers see whether it actually works in people, for the first time. For example, how would researchers test a new medicine that makes it easier to pay attention? Well, they would look at how well someone pays attention before and after taking the medicine. To measure this, they would use surveys or standardized tests that ask very specific questions about paying attention.

Phase III trials look at the medicine in even more people and for longer periods of time to make sure that it works and that there aren’t any serious side effects.

The phases of a clinical trial
(UCSD: School of Medicine)

If you’ve ever wondered why it takes so long to make a new medicine, this’s why! It takes many years of work to get ready for animal testing, followed by many more years for it to pass human testing and be ready for approval by the FDA. Once it is approved, a new medicine has been made!

Are clinical trials the only types of studies?

No! There are many other research projects that don’t involve taking a new medicine. These are called “non-therapeutic studies,” and they can cover a wide range of topics. Studies that aim to develop a new questionnaire, collect medical history information, or improve quality of care would all fall under this umbrella.

The three main forms of these studies are:

  • Longitudinal: The information is collected over time.
  • Cross-sectional: Many individuals participate, but data collection only happens once for each person.
  • Case Study: An in-depth look at one or a couple of people.

Non-therapeutic studies are just as important as clinical trials. They help us understand more about a disorder, such as Fragile X syndrome, improve clinical trials and provide better clinical care.

What does it take to participate in research?

Some studies are very easy to do — and short! Your local clinic, school, or doctor’s office may have a study going on right now that you could get involved in.


Other studies, especially clinical trials, can come with a big time commitment. It’s important to make sure that completing all of the study activities — which can include phone calls, daily diaries, online forms, and visits to the study site — is feasible for your family. Don’t be discouraged, though! The study team is there to make sure that participating is as smooth and convenient as possible.

Here are some great places to look, if you think you might be interested in clinical trials or other research:

  • All medication trials (and some other studies) have to register here, so you can get all the latest information on the study: Who is sponsoring it, where it’s taking place, even some preliminary results. You can search for “Fragile X Syndrome,” or for any other condition you or a family member might have (including FXPOI and FXTAS).
  • The NFXF MyFXResearch Portal.
  • Local and national groups like the NFXF’s Community Support Network.
  • Your local clinic! Clinicians and researchers at your nearest Fragile X clinic may already be working on projects that you can help with.
  • Research registries: The study teams will contact you if you or your child appears they might be eligible for a study. One example is the FORWARD study, taking place at a Fragile X Clinic near you!

Once you find a study you might be interested in, contact the study team!  They will be able to provide you more details about the study.

You might also be interested in

Clinical Research Trials from Start to Finish

Authors Sharyn Lincoln and Katherine Pawlowski of Boston Children’s Hospital speak about how clinical research trials work, what it takes to participate in them, and what happens after the study.

5 Questions

Here are 5 important things you can ask about, to make sure that the study is right for you:

1. Study design (how the study is run)

Will you or your child definitely get the study medication, or is there a “placebo” (fake medicine) involved? Are there forms you need to complete on a regular basis?

2. Time commitment

Do you have enough time in your schedule for all of the study activities?

3. Exclusion criteria

For clinical trials and many other studies, there can be a list of medications or other factors that limit who can actually participate. Ask the study team about any limits on who can join the study.

4. Do you get results back?

If so, how will those be communicated to you?

5. Remember, you’re the expert on you and your family!

Share your concerns, confusions, and questions with the study team as you talk about the project.

The research doesn’t end as soon as you’ve done all of the study activities! Once the last person has completed the study, all the data needs to be analyzed. In other words, all of the data will be looked at to see if there are any patterns that help lead to an answer about the questions being asked in the study.  This can take a lot of time and is another reason why it can take so long to get results from a study.  You can always contact the study team to see if new information is available.

Now it’s time to go out there and use what you’ve learned! Happy researching!


Katherine PawlowskiSharyn Lincoln, MS, CGC, is a licensed genetic counselor and program coordinator of the Fragile X Program at Boston Children’s Hospital. In her spare time, Sharyn is auntie to the cutest Bernese Mountain Dog ever.

Katherine PawlowskiKatherine Pawlowski, BA, is the research manager of the Fragile X Program at Boston Children’s Hospital. In her free time, Kate enjoys taste-testing baked goods and reading lots of mystery novels.