Clinical Trials

Understanding & Participating in a Mito Clinical Trial

Whether you’re here to learn what it means to participate in a clinical study or connect with a relevant research opportunity, you’re in the right place. By engaging in clinical trials, mitochondrial disease patients and their families help researchers make progress towards better treatments, therapies, and someday a cure.

“I would like to see a world where we have a cure for mitochondrial disease, where nobody needs support and one where we all go about worrying about something else.”

Dan Wright • Mito Dad

The following trials are actively recruiting:

MELAS

Zagociguat

Sites in USA, UK, Australia, Italy,
Germany and Canada

Check Eligibility

Pearson Syndrome

MNV-201

Sites in Israel

Check Eligibility

LHON

NR082

11778 mutation

Sites in USA & China

Check Eligibility (China)

Check Eligibility (USA)

Therapeutic Development Pipeline

All new treatments or therapeutics proceed through a defined development path. This path begins with preclinical development and progresses through clinical trials all the way to FDA-approval before ending in patients’ hands.

Several treatments for mitochondrial diseases are already making their way along this path. Now mito patients and their families are able to see the treatment approaches being developed, where they are in the development pipeline, and what mitochondrial diseases they target.

View the Full Therapeutic Pipeline

Find a Clinical Trial

Simplify your search for a relevant clinical study using CenterWatch. This site provides easy-to-understand information on all the mitochondrial disease clinical trials and observational studies listed on clinicaltrials.gov and is regularly updated to reflect active research. Know of a study that needs added to the Mito Clinical Trials Finder? Contact info@umdf.org.

How Clinical Trials Work

Clinical trials are an essential step in the development of a new treatment. Here’s an overview of how they work.

Participants are Essential

Clinical trials can’t progress without participants because all new therapeutics must be tested in enough individuals to distinguish between a chance event and an outcome that can be reproduced.

Participants with a mitochondrial disease are essential partners in the process of researching and creating treatments for their disorder. While there are always inherent risks in trying a new treatment during a clinical trial, there are also benefits, including:

New access to emerging treatments and experts in your disease
The knowledge that you’ve taken action to help others with your disease

Participants are Protected

The Food and Drug Administration (FDA) has put laws, regulations, and procedures in place to ensure participation risks are kept to a minimum. For example:

Safety Measures are Implemented Before a Clinical Trial Enrolls its First Participant.
New treatments are subjected to years of testing in the lab and with animal models to determine if they qualify for testing in clinical trials.
To conduct a clinical trial, sponsors present an application to the FDA with data, a proposed study design, and any documents intended for participant use.
Clinical trials cannot proceed until a thorough review is completed by the FDA and approval is granted.
Throughout a clinical trial’s duration, monitoring is continuous to ensure researchers adhere to the study’s protocols.

Participants with a mitochondrial disease are essential partners in the process of researching and creating treatments for their disorder. While there are always inherent risks in trying a new treatment during a clinical trial, there are also benefits, including:

New access to emerging treatments and experts in your disease
The knowledge that you’ve taken action to help others with your disease

Participants Have Rights

In addition to establishing safety regulations, the FDA protects clinical trial participants and gives you the right to:

Understandable information about the study
Being treated with respect
Withdraw from the study at any time

View the Patient Bill of Rights

The Decision to Participate is Yours

Before you begin participating in a clinical trial, you will meet with the researchers to discuss the study, what to expect, risks involved, and your rights. You can also ask the researchers any questions. Every study is different. Who can participate, what tests will be used, how long the study will last, and how the data will be analyzed are all factors you may want to consider as they will impact the time, money, and energy involved in your participation.

Helpful Tips When Speaking to Your Doctor about Clinical Trials

l

Write down any questions in advance.



Take a family member or friend along for support.

w

Write down the answers & record the conversation.

Questions to Ask Before Deciding to Participate

The Clinical Trial

What is the purpose of the trial?
Why do researchers believe that the treatment being studied may be better than the one being used now?
Why may it not be better?
How long will I be in the trial?
What kind of tests and treatments are involved?
How will the doctor know if the treatment is working?
How will I be told about the trial’s results?
How long do I have to make up my mind about joining this trial?
Who can I speak with about questions I have during and after the trial?
Who will oversee my care?
Is there someone I can talk to who has been in the trial?

Risks and Benefits

What are the possible side effects or risks of the new treatment?
What are the possible benefits?
How do the possible risks and benefits of this trial compare to those of the standard treatment?

Your Rights

How will my health information be kept private?
What happens if I decide to leave the trial?

Costs

Will I have to pay for any of the treatments or tests?
What costs will my health insurance cover?
Who pays if I’m injured in the trial?
Who can help answer any questions from my insurance company?

Daily Life

How could the trial affect my daily life?
How often will I have to come to the hospital or clinic?
Will I have to stay in the hospital during the clinical trial? If so, how often and for how long?
Will I have to travel long distances?
Will I have check-ups after the trial?

There are Both Observational Studies and Clinical Trials

There are two types of clinical studies:

Observational trials collect data on disease symptoms over time in individuals under normal conditions. Such studies increase the researchers understanding of a disease. They can also help guide the design of clinical trials.

Clinical trials investigate a participant’s response to medical, surgical, or behavioral therapy. This research determines whether a particular therapy safely improves a patient’s quality of life.

View full glossary of terms

Clinical Trials Follow a Defined Sequence Known as Phases

Before any new treatment reaches the market, it must be tested in a series of clinical trial phases. Each phase is designed to answer a specific critical question about patient outcomes.

Phase I

Is the Treatment Safe?

A Phase I clinical trial provides the first test of a new treatment in people. At this stage, the treatment has already been extensively tested in lab and animal studies, but there is no way to know for certain how well the results will translate to people. Safety is the research team’s primary concern, so each participant is carefully monitored in this phase. Therapies that are deemed safe for humans in Phase I advance to Phase II.

Learn more

People involved: 10-100 healthy “controls” or people without a mitochondrial disease
Time to answer question: Months
Information gained: Therapy safety, side effects, appropriate dosing, and optimal delivery method such as by mouth or injection
Trials advancing to the next phase: 70%

Phase II

Can the Treatment Improve Patient Outcomes?

The goal of this phase is to determine whether the treatment works. Researchers want to find out if the treatment is safe for individuals with the disease the therapy is intended to treat and improves outcomes for those patients.

Researchers may answer these questions by comparing the outcomes of participants divided into two groups:

A “control” group that receives the recommended treatment for disease or a placebo
An “experimental” group that receives the new treatment

Learn more

To minimize the risk of biasing the results, neither the participants nor the researchers are informed of which treatment group an individual is in. If Phase II trials demonstrate that the new therapy safely and effectively treats the relatively small number of participants involved, Phase III testing can proceed.

People involved: 100s of people with the disease the therapy is intended to treat
Time to answer question: Months to years
Information gained: Safety for individuals with the target disease and insights for designing Phase III trials
Trials advancing to the next phase: 25-30%
People involved: 10-100 healthy “controls” or people without a mitochondrial disease
Time to answer question: Months
Information gained: Therapy safety, side effects, appropriate dosing, and optimal delivery method such as by mouth or injection
Trials advancing to the next phase: 70%

Phase III

Does the Treatment Reproducibly Provide New Benefits for Patients

Phase II trials provide the first indication of whether a treatment is working but don’t include enough participants to conclude that the treatment reliably improves outcomes for patients or the size of improvement. These aspects are addressed in Phase III clinical trials.

Phase III trials prove whether a new treatment works better than current approaches by testing it in more people, over several years, and at many different medical centers. They always randomly assign participants into either a “control” or “experimental” group for comparison. If a Phase III trial shows that the new therapy offers a new benefit to patients and meets the standards set by regulatory authorities, it can be considered for approval.

Learn more

People involved: 200-2,000 people with the disease the therapy is intended to treat
Time to answer question: Several years
Information gained: Proof of the safety and outcomes for individuals with the target disease
Trials advancing to regulatory approval: 33%

Phase IV

How Does the Treatment Perform Outside of a Research Setting?

If regulatory agencies approve a treatment, it enters the market and can be prescribed for use. At this point, the treatment enters a Phase IV clinical trial. These trials assess the new treatment’s performance outside the highly controlled lab or clinic environment where the other trial phases were conducted.

The conditions under which a treatment is normally administered may introduce variables that were not present in this setting but may affect patient outcomes. Phase IV clinical trials collect data to capture any new effects, reveal any long-term side effects, and may detect any potential for the new therapy to treat other diseases.

Learn more

People involved: Thousands who are prescribed the new treatment
Time to answer question: Several years
Information gained: Any effects that may not have been present in the clinical setting

Trial Proceeds to Completion

How Does the Treatment Perform Outside of a Research Setting?

Most clinical trials proceed to completion enabling researchers to gain conclusive results about the treatment being investigated. Sometimes the result is trial failure. Most often, clinical trial failure is due to an inability to demonstrate that a new treatment is effective. Although much less common, clinical trials can also fail due to safety or logistical issues such as a lack of funding.

In general, volunteer participants cannot continue the treatment studied in a failed clinical trial.

Learn more

However, exceptions can be made under the compassionate use and expanded access programs established by the FDA if the following criteria are met:

The sponsor allows and can provide continued access to the treatment.
The new treatment clearly improves outcomes for the individual taking it.
The trial failed due to reasons other than safety.
The disease being treated threatens the participant’s life.
No alternative treatments exist.

Even though failure isn’t the result anyone hopes for, the data collected can be used to inform future studies and makes the research valuable.

FAQs about Clinical Trials

Q: Why do clinical trials take so long?

A: It can take six or seven years for a new therapy to progress from a Phase I clinical trial to FDA approval. This is a long time for patients waiting for new medicines!

The FDA regulations and procedures that govern clinical trials balance the need to get therapies into patients’ hands as quickly as possible with the need to keep clinical trial participants and patients safe. Protecting patients and ensuring that any new medicines provide a benefit requires a lot of work on the part of researchers, Institutional Review Boards (IRB), and the FDA. This work includes reviewing all the data available on a new medicine, designing clinical trial protocols, writing and reviewing applications for clinical trial authorization and drug approval that are hundreds of pages long, collecting and analyzing data from trial participants, and more. Completing this work takes time.

Q: What are my rights as a clinical trial participant?

A: As a clinical trial participant, you are entitled to several rights, including but not limited to:

Safe and respectful healthcare
Confidentiality
Complete and understandable information
Appropriate treatment for pain and discomfort
Medical updates shared with your healthcare providers

For more information, view the Patient Bill of Rights.

Q: What costs are involved in participation and is reimbursement available?

A: Part or all the costs of the medical care involved in a clinical trial may be covered. Every trial is different. The subject of payment can be addressed by the clinical trial research team before you make your decision about participation.

Q: Why are placebos used in clinical trials?

A: Placebo groups provide a baseline of comparison for the experimental group receiving the new therapy. In doing so, they allow researchers to more effectively measure the effects of the new treatment. They are also essential for a therapy to be considered for FDA approval.

Q: How do I choose a study?

A: First, use the Mito Clinical Trial Finder to identify trials for which you are eligible. If you are eligible for multiple trials, the one you choose to participate in is up to you. It may be helpful to discuss your options with family and your healthcare provider team.

Q: Can I participate in multiple studies?

A: In general, you cannot participate in multiple clinical trials at the same time. Doing so would compromise the integrity of both trials. You may, however, be able to participate in successive clinical trials. This issue can be discussed with the researchers conducting a clinical trial you’re considering.

Q: How are clinical studies different from doctor visits?

A: Clinical trials differ from doctor visits even if the researcher conducting a clinical trial is your doctor. The key difference is that clinical trials are research. The goal of this research is to find out more about your disease and/or test a new medicine. You may have to complete questionnaires or undergo procedures such as blood draws or imaging that provide researchers with needed information but don’t impact your healthcare. Additionally, the safety of a medicine being tested and whether or not it works are unknown. Finally, because it’s research, the medical and other costs incurred through clinical trial participation may be partly or fully covered.

Q: Can I talk to someone who has already participated in a clinical trial?

A: Yes! UMDF is here to help support you as you consider clinical trial participation through information and resources. You don’t have to face your decision alone. Reach out for support to connect with someone who has already been through the process.

Q: Can I share details about my experience in an active study with others?

A: It’s understandable that you want to talk about your involvement with a clinical trial. While you can share that you are participating, you must keep quiet about the details of any active study. Otherwise, you place the study at risk. For example, by sharing the type of side effects you’re experiencing, you could introduce bias into the study and cause trial discontinuation. Remember, as a clinical trial participant, you are an essential partner in clinical research and it’s important to trial sponsors and others with your disease that you do your part to maintain the rigor of the study.

Q: What happens if I decide to withdraw from a study?

A: As a participant, it is your right to withdraw from a study at any time if you choose. There are many understandable reasons for withdrawing from a clinical trial. However, your withdrawal can negatively impact the study. It adds costs to the trial and researchers will have to recruit another participant to replace you. Additionally, you will lose your eligibility to receive the study drug if an open-label extension is offered. All of these impacts are okay if withdrawal is in your best interest.

Q: What happens when the open label phase is complete?

A: The answer depends on whether the study treatment has been approved by the FDA or not. If it has, then the treatment may be obtained through a prescription. If it hasn’t, then study participants will not be able to access the treatment until it has received approval.

Q: How are decisions about compassionate use made after a trial concludes?

A: Compassionate use (also called expanded access) creates a pathway for patients outside of a clinical trial to receive a treatment that is under investigation. Compassionate use may be authorized by the FDA if a sponsor allows and certain criteria are met.

Q: Why do clinical trials fail?

A: Some clinical trials fail. Most often, failure results from the researchers’ inability to show that the treatment being studied improves outcomes for patients. Sometimes treatments just don’t work despite the best efforts of everyone involved in their development. Clinical trials provide the first test of a new treatment in humans and it’s impossible to know for sure if the treatment will perform as well in people as it does in animal models. In other cases, the treatment may work, but researchers were unable to detect an improvement in symptoms. These detection issues can be caused by a lack of appropriate measurement tools or insufficient volunteer participation.

Therapeutic Development Pipeline

All new treatments or therapeutics proceed through a defined development path. This path begins with preclinical development and progresses through clinical trials all the way to FDA-approval before ending in patients’ hands.

Several treatments for mitochondrial diseases are already making their way along this path. Soon mito patients and their families will be able to see the treatment approaches being developed, where they are in the development pipeline, and what mitochondrial diseases they target.

Stay tuned for the reveal of the full pipeline!

Conditions in the Pipeline

Barth Syndrome
Inherited Mitochondrial Disease
KSS-CPEO
Leigh Syndrome
LHON
MELAS
MERRF
Mitochondrial Myopathies
MIDD
Pearson Syndrome
PDCD
Seizures
TK2 Deficiency

Glossary of Clinical Trial Terms

Adverse outcome/adverse event

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

Compassionate use

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

Crossover

A clinical trial method in which the volunteer participants receive a series of different treatments (instead of just one).

Dirty drug

A drug that is not specific for its target and as such may interact with several different targets, leading to a wide range of effects, some of which could be harmful.

Double blind

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

Efficacy

The ability to achieve the intended result.

Endpoint

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.

Exclusion criteria

Features that if present in addition to the inclusion criteria exclude an individual from clinical trial participation because they could interfere with the success of study or increase that individual’s risk of an unfavorable outcome.

Inclusion criteria

Key features of a target population for a clinical trial that potential participants must have in order to be included in that trial.

Informed consent

Permission to treat given by a patient or a patient’s caregiver with the knowledge of the possible risks and benefits associated with that treatment.

Institutional Review Board (IRB)

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.

Off label

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

Open label/open label extension

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

Outcome measures

Tools used to assess a patient’s current status in terms of disease level.

Phases

A part of the clinical research progress that answers a specific question about the safety and efficacy of a new treatment.

Placebo

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.”

Placebo-controlled

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

Primary outcome

The variable that is the most important in answering a research question.

Principal investigator (PI)

The researcher that is leading the study.

Protocol

A document that outlines all the details about how a clinical trial should be conducted, such as which tests should be used, how often tests should be performed, and what outcomes to measure. A protocol is supposed to ensure to the best of human ability that all data is collected in a uniform way.

Randomized controlled trial

A type of experiment that attempts to minimize bias in measuring the effectiveness of a new treatment by randomly assigning participants into two or more treatment groups. One group (the “experimental” group) receives the new treatment. The other group (the “control” group) receives an inactive substance that otherwise “looks” like the new treatment or the current recommended treatment for the target disease.

Recruitment status

Whether or not a trial is open for volunteer enrollment.

Registry

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

Secondary outcome

A variable that, while not as important as the primary outcome, is still of interest in answering a research question.

Sponsor

A person or organization that conducts and pays for a clinical trial.

Washout period

The time between treatments where a drug is washed out of a patient’s system.

* This glossary was originally published on Rett Research Ready™ and appears here with permission from the International Rett Syndrome Foundation (IRSF).

Looking for additional resources?

View our video library to learn more about clinical trials.

VISIT MITO U