Get Rett Research Ready

At the International Rett Syndrome Foundation (IRSF), we’re committed to helping you understand what it means to participate in a clinical trial and provide you with personalized research opportunities. We believe in a world without Rett. We invite you to join in the effort to bring new treatments — and ultimately a cure — to our loved ones.

What are the types of research?

Research is necessary to discover life-changing new treatments – and eventually a cure – for Rett syndrome. There’s Basic Research, Translational Research, Neuro-habilitation Research, and Clinical Research. Here, we define each type of research, and explain what each contributes to the goal of creating a cure.

Basic Research

Basic research investigates the life processes involved in health and disease. It’s usually performed in a laboratory using cells or animal models. This type of research may not apply directly to a treatment, but such investigations are essential to generate new ideas for therapeutic development down the line.

Translational research, also called “bench to bedside” research, tests something that came from basic research for its use in improving health outcomes. Like basic research, translational studies are typically performed in the lab using a model. The goal of translational studies is to produce a new treatment. Hopefully, the new treatment will prove safe and effective enough in an experimental setting to be tested in a clinical trial.

Neuro-habilitation research searches for ways to re-train the brain through cognitive, speech, occupational, and physical therapies. This type of research may involve animal studies or human participants. Rehabilitation professionals carefully supervise the research in a clinical setting. The data collected in neuro-habilitation research helps in the design of new treatment protocols that are based on science rather than isolated cases.

Clinical research investigates health and disease in humans. One type of study that falls in this category is a clinical trial. This type of research requires human participants. It often takes place in a clinic setting, and a clinical team always oversees it. Surveys and neuro-habitational studies are other types of clinical research.

Clinical studies can be further broken down into two categories: Observational Trials and Interventional Trials. In an observational trial, researchers monitor participants’ health, collecting data on their disease symptoms and progression over time.

In an interventional trial, researchers study a participant’s response to a therapy. This therapy could be a drug, surgery, vitamin, exercise, or some other means of influencing disease processes. You can see the current list of interventional trials in myRett Trial Finder by searching by study type and selecting “Interventional.”

The time, money, and energy required of the families who choose to participate may vary by the individual clinical study. However, the goal of all clinical research is the same: to improve the quality of life for patients by advancing our understanding of a disease and its treatment.

How are new therapies developed?

The development of any new drug or therapy for Rett syndrome or any disorder must follow a scientifically rigorous and well-regulated path. This path is designed to make sure that any new therapy is safe and effective when it is made available to the public. The therapy development path is divided into five stages. 

01

Discovery & Development

5-10 Years

02

Pre-Clinical Research

3-5 Years

03

Clinical Research

6-7 Years

04

Drug Review

1-2 Years

05

Post-Market Safety Monitoring

Months to Years

How do clinical trials work?

Before any new treatment reaches the market, it must be tested in a series of interventional clinical trial phases to determine if it is safe and effective. Each phase must answer a different question about the new therapy. As such, each follows a different study design.

Phase 1

Safety & Dosage

Is It Safe for Humans?

Phase 2

Safety & Efficacy

Is It Safe and Effective for the Target Disease? 

Phase 3

Side Effects & Efficacy

Can Phase II Findings Be Confirmed?

Phase 4

Continued Assessment

Does It Perform as Expected in the “Real World”?

Participating in Rett Research

Choosing to participate in a clinical trial is a big decision for your family. We want to help you understand your rights and protections as a research volunteer. Many regulations and safety measures are in place to ensure your loved one’s health and safety and minimize risks.

Clinical trials and the treatments that come out of them do not happen without volunteers. For rare diseases such as Rett syndrome, finding enough participants can be a significant barrier to a clinical trial’s success. Choosing to participate in a clinical trial is a big decision for your family. We want to help you understand your rights and protections as a research volunteer. Many regulations and safety measures are in place to ensure your loved one’s health and safety and minimize risks.

Although risks are always involved in clinical trial participation, regulatory authorities are responsible for making sure that these experiments are performed in the safest way possible. An Institutional Review Board (IRB), a group of doctors, scientists, and lay people who are not affiliated with the study, oversees many of these safety measures. The IRB reviews a study’s design and informed consent document. The informed consent is a form that all clinical trial participants must be given that outlines their rights, any risks involved in participation, and what to expect during the clinical trial.

The IRB must approve the study design and informed consent document before a clinical trial can begin. The IRB also monitors the study while it is ongoing to make sure the strict protocol detailed in the study’s design are followed. The group’s goal during the entire process is to protect the welfare of all study participants.

Before you join a study in any phase as a participant, you will meet with the researchers conducting the trial to discuss relevant aspects of the study and go over the informed consent form. Specifically, each study will vary in terms of who can participate, how many participants are needed, what tests will be used, how long the study will last, and how the data will be analyzed. It will also vary in terms of the time, money, and energy required of you and your family if you choose to participate.

You should ask as many questions of the researchers conducting the trial to get the information you need to decide whether participation is right for you and your family. Carefully consider what questions to ask before participating in a clinical trial.

Here are several questions to discuss with your Rett clinic team or clinical trial site as you consider enrolling in a clinical trial.

Most clinical trials proceed as designed from beginning to end, even when they don’t show the results the researchers hope for or expect. Completion of the study allows the scientific community to have conclusive results upon which to base their understanding and design future studies.

Clinical Trial Failures

Sometimes clinical trials fail despite the best efforts of everyone involved. Clinical trial failures are categorized as either a project failure or a research failure.

The most common reason for clinical trial failure is an inability to prove that a new treatment is effective. The reasons for not being able to demonstrate treatment effectiveness may include:

  • The new therapy shows little or none of its disease-fighting effects researchers anticipated.

  • The treatment may be effective, but:
    • Researchers lack the tools or the data to show this effectiveness.
    • The effectiveness of the therapy is smaller than anticipated and therefore not captured by the tool selected.
    • The trial did not have enough volunteer participation.


Although not as frequent as failing to show efficacy, clinical trial sometimes fail due to safety issues or a lack of funding.

Continued Treatment After Trial Failures

Usually, volunteer participants can’t continue the treatment if the study fails. However, some exceptions can be made which depend on the treatment’s sponsor. The sponsor will consider several factors to decide whether or not to allow continued access to the treatment tested in the clinical trial, including:

  1. The new treatment shows a clear benefit for the individual taking it.
  2. The trial failure was due to efficacy or finances — NOT safety.
  3. The disease being treated is life-threatening.
  4. No alternative treatments are available.


If these conditions are met, and the sponsor is able to keep providing the treatment, the participant may be allowed to continue the new therapy. These exceptions fall under the compassionate use or expanded access programs allowed by regulatory bodies for unapproved therapies.

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