This is an important and highly personalized question to consider. After reviewing relevant studies on myRett Trial Finder, it likely would be most helpful to talk with your loved one’s care team about which one(s) might be most appropriate.

Every study or trial is different. Participation may last anywhere between weeks and years. Please refer to information about specific studies on myRett Trial Finder and talk with the team at your trial site.

Clinical trials are regimented and require study visits to occur at very particular times, often with only a couple of days leeway. For this reason, study participants need to inquire about the study visit schedule prior to deciding to enroll in a clinical trial to ensure they can make all the required study visits. It may be a big commitment to participate in a clinical trial for this reason, so one to weigh carefully.

Different clinical trials will have different types of visits and tests required. Some may allow for study visits to be completed from home (for example, with a visit from a nursing agency or going to your local lab for a test). Still, many require your study visits to be at the research site where the research volunteer enrolled in the clinical trial.

Rett syndrome is a complex disorder with lots of variability between individuals, but also within any one person with Rett on a day-to-day basis. For this reason, it can be difficult to assess improvement with the tools we currently have available. The placebo group helps to provide baseline variability against which a treatment effect is measured.

Clinical trials are science experiments: testing to see if a drug works to improve a particular condition. Just like in a science experiment, the ideal clinical trial tests a similar population defined by the inclusion and exclusion criteria. The more variability in those that are enrolled in a clinical trial, the harder it may be to demonstrate that a study drug has benefit. For this reason, most clinical trials use classic Rett syndrome with a confirmed genetic mutation in MECP2 as one criterion required for enrollment. This will hopefully change in the future as our researchers learn more about males with Rett syndrome and can feel confident that the course of Rett syndrome in a male is similar enough to Rett syndrome in a female, therefore allowing males and females to both be included in clinical trials. The concern with including diverse population in a clinical trial is that it is too hard to demonstrate an effect, and therefore clinical trials are not successful, and the drugs cannot move forward in the process of FDA approval.

While every researcher has the responsibility of safeguarding study participants, enrolling in clinical research is not the same as seeing your doctor for clinical care. Sometimes the researcher is also your regular Rett doctor, but here are some of the key differences to consider about what to expect during a clinical trial versus your regular medical appointments:

Research:

• The goal of research is to learn about your child’s illness.
• Research must use standardized procedures and protocols. In research studies, your child may be randomly assigned to a group taking a standard treatment or a placebo (an inactive substance or preparation used as a control) versus the group taking the treatment being studied.
• The safety and effectiveness of experimental medicines are not fully known, which is why they are being studied in a clinical trial.
• FDA-approved medicines are medicines that have already been studied in clinical trials previously and the side effects and benefits are better understood.
• Your child may be asked to undergo procedures (such as blood tests, EEGs, imaging scans, etc.) and you may be asked to complete questionnaires important for research but not necessary for your child’s care.
• Medical and other costs associated with participation in a research study may be partly or fully covered.

Clinical Care:

• The goal of clinical care is to treat your child’s condition.
• When providing clinical care, your doctor can change/customize your child’s treatment as needed.
• If necessary, a patient will always receive an active, FDA-approved drug.
• During routine clinical care of your child, testing procedures and questionnaires are restricted to those necessary for your child’s optimal medical care.
• You are responsible for treatment costs and/or the cost of health insurance coverage/co-pays associated with the routine medical care of your child.

The short answer to this question is yes. There are various options available to ensure that travel expenses and logistics are not insurmountable barriers to participation in clinical trials and other research. Several sponsors offer travel reimbursement to families who travel for the purpose of participating in a clinical trial, and some sites provide options to help with logistics as well. Please contact International Rett Syndrome Foundation or Rettland for more information and support in accessing available resources.

As a clinical trial participant, you are considered a volunteer and you can withdraw your family member from the clinical trial at any point for any reason. There are many reasons one may withdraw from a study: difficulty making the protocol visits, difficulty tolerating the medication, difficulty remembering to give the medication. Withdrawing from a study does have a negative impact on the clinical trial as it adds cost and requires additional study participants to enroll to meet the number of study participants required for the study, but there are situations where it is in the best interest of the study participant to withdraw and that is okay. Some clinical trials will offer an open-label extension, meaning the study participant will be able to receive the study drug for a longer period of time even if he/she had received placebo during the study period, but in order to qualify for this open label extension one needs to complete the full placebo-controlled trial to be eligible. The open-label extension is a bonus for the research participants who went through the clinical trial. Open label studies (ones that do not have a placebo at all) are useful as small pilot studies to see if there is an effect of a therapy, but they are not sufficient for testing a drug to get FDA approval in most instances, which is why it is important to have placebo-controlled trials and to have participants willing to enroll.

It may be possible to discontinue enrollment in one trial and change to another. Clinical trial design and protocols will guide whether this is possible, as well as how long a participant would need to wait between trials. Please keep in mind that trials rely on participants to maintain their enrollment in order to meaningfully test the drug or therapy being tested or otherwise fulfill the objective(s) of the study.

If the study drug has not been approved by the FDA before the completion of the open-label phase, then an individual with Rett syndrome may be able to get the drug from their pharmacy with a prescription from their doctor. If the study drug has not been approved by the FDA before the completion of the open-label phase, then the study participant may not have access to the study drug any longer until the medication gets approved by the FDA.

While a study participant and their family may want to share their experience with an investigational treatment, doing so may actually hurt the integrity of the study. For example, in sharing particular information (such as details of side effects), participants may discover who is on active study drug versus placebo, which can unblind the randomized controlled trial and lead to the discontinuation of a clinical trial. Not only would this create a loss for the pharmaceutical company, but all those hoping for approved treatments for their loved ones. For this reason, it is critical to remember that a clinical trial is an experiment to test if a therapeutic will work to treat Rett syndrome or some symptoms associated with Rett syndrome. These experiments require careful scientific rigor, and study participants should maintain that rigor to the best of their ability for the integrity of the study.

Yes. International Rett Syndrome Foundation is dedicated to helping you connect with information and resources as you consider clinical trial opportunities. This includes connection to clinical trial ambassadors. Please contact [email protected] to ask about talking with a clinical trial ambassador.

Rett syndrome is a severe and pervasive disorder. Trials aimed at symptom improvement or stopping the progression of the disease could significantly enhance one’s quality of life.  These trials should be considered while we wait for studies that address the root cause of Rett syndrome, which are the most likely to offer potential transformative or curative responses. This research includes gene modifying therapies such as gene replacement therapy, gene editing, and RNA editing. Gene replacement therapy is the option that is closest to reaching clinical trials. The other types of gene modifying therapies are still being developed in the lab and are not yet ready for clinical trials in Rett syndrome.

Compassionate use is a term used when an unapproved (experimental) medication is given to a patient not enrolled in a clinical trial. This is a decision that the sponsor (pharmaceutical company) makes and requires approval by the FDA to use the experimental medication under compassionate use.

Es un requisito que, por lo menos, un padre o cuidador(a) habla ingles para dar consentimiento informado para participar en el ensayo clínico y responder a preguntas de los investigadores. A veces el patrocinador de investigación clínica en los Estado Unidos busca la aprobación para realizar el ensayo clínico usando cuestionarios en español, pero es raro en un enfermedad rara como Rett.

Any undesirable experience associated with a patient’s use of a medical product.

When a patient with a life-threatening illness is granted access to an experimental treatment outside of clinical trials.

A clinical trial method in which the participants receive two or more treatments (instead of just one) in a specific order.

A research method where neither the researchers conducting a clinical trial nor the volunteers participating in the trial know whether the participant is taking the experimental treatment or the placebo.

The performance of an intervention in a clinical trial.

An outcome that is being measured in a clinical trial.

• Primary– the main result or endpoint measured at the end of a clinical trial to determine whether or not a new experimental treatment works.
• Secondary– results that were obtained during a trial that can be analyzed, but are not necessarily controlled for.

Features that, if present, exclude an individual from clinical trial participation.

Habilitation refers to therapies to help an individual achieve or enhance skills that may have never developed, such as a child who is not talking as expected for their age. By comparison, rehabilitation helps people recover skills they once had but may have lost due to illness or injury. Individuals may experience enhanced quality of life from habilitation services at different ages and stages of their life to address functional abilities including mobility, communication, or activities of daily living.

Key characteristics that potential participants must have in order to be included in that trial, such as age range or disease progression.

A process to inform potential study participants of the risks and benefits anticipated from a clinical study.

An administrative body consisting of doctors, scientists, and lay people that reviews plans for clinical research to protect the rights and welfare of the human subjects involved in that research.

A use for an approved drug other than what that drug was designed for.

A type of clinical trial where both the researchers and the participants know whether they are receiving the control or the experimental treatment. This type of study is the opposite of a double-blind clinical trial.

A continuation of a clinical trial in which all participants receive the study drug. Often, this type of study allows participants who were in a clinical trial to continue to receive the study drug for an extended period of time. Longer term safety data are collected in this type of trial.

Criteria used to assess the effectiveness or results of a clinical trial or the status of a disease or disorder in an observational study.

The steps of testing in a clinical trial that determine if a drug or therapy is safe and effective (see definition of Phase 1, Phase 2, Phase 3, and Phase 4).

A substance that has no therapeutic effect that is often used as a control for testing new drugs. It is sometimes referred to as a “sugar pill.”

A research method in which a substance that has no therapeutic effect (a placebo) is used as a baseline comparison (control) to measure the effectiveness of a new treatment.

A favorable change that occurs after taking a placebo (substance with no therapeutic effect). This phenomenon may be a result of hope or expectations of benefit, of increased visits to a medical provider, or to increased vigilance of daily activities. To test this effect versus a drug or therapy’s true benefits, clinical trials usually feature placebo-controlled designs.

The most important variable in answering a research question in a clinical trial.

The researcher that is leading the study.

An outline of all the details about how a clinical trial is conducted, such as which tests should be used, how often tests should be performed, and what outcomes to measure.

A type of experiment that attempts to minimize bias in measuring the effectiveness of a new treatment. Participants are randomly assigned into two or more groups. One group (the “experimental” group) receives the intervention being studied. The other group (the “control” group) usually receives a placebo, an inactive substance that “looks” like the new treatment. When a treatment already exists, the control group receives the current standard of care.

Whether or not a trial is open for volunteer enrollment.

An organized system of uniform information used to evaluate specified outcomes for a predetermined clinical purpose.

A variable that is of interest in answering a research question, but not as important as the primary outcome in a clinical trial,

A sponsor of a clinical trial is the entity, which could be a person, company, institution, group, or organization, that initiates a study and has responsibility to ensure protection of study volunteers and the collection of data that adheres to quality standards. Specific sponsor responsibilities include activities such as: oversight of the study, payment, selection of study sites, collection and analysis of data, and reporting and other communication with the Food and Drug Administration.

An intervention that is intended to prevent, slow, stop or reverse a disease or symptoms of a disease. No therapy has been proven yet to change the course of Rett syndrome, but clinical trials and other research expand our understanding of Rett and offer hope for improved quality of life and treatment options.

In a crossover study, the time between treatments where a drug is washed out of a patient’s system before beginning the other treatment.