Individuals & Families

TSC Clinical Trials

A Basic Introduction to Clinical Trials

Choosing to participate in a clinical trial is an important personal decision.  It is often helpful to talk to a physician, family members, or friends about deciding to participate in a clinical trial.  The following frequently asked questions provide a basic introduction to clinical trials.

For additional information, you can download A Basic Introduction to Clinical Trials informational brochure.

Current TSC Clinical Trials By Organ System

These clinical trial descriptions are for informational purposes only. Individuals with TSC should discuss with their health care providers whether participating in a clinical trial is appropriate and advisable. Your health care provider can also discuss this with the Principal Investigator (PI) of the study to determine if you are eligible and if it is advisable for you to participate. Only TSC clinical trials and clinical studies that have obtained Institutional Review Board approval are listed below.

Brain and Neurological Function

Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVeNT Trial)

Where: TSC Clinical Research Consortium sites at Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles, University of Texas at Houston, Minnesota Epilepsy Group, PA, and Stanford University

Principal Investigators: Mustafa Sahin, MD, PhD (Boston), Darcy Krueger, MD, PhD (Cincinnati), Martina Bebin, MD, MPA (Birmingham), Joyce Wu, MD (Los Angeles), Mary Kay Koenig, MD (Houston), Michael Frost, MD (Minnesota), Brenda Porter, MD (Stanford)

Who is eligible to participate?  We are enrolling 0-6 month old infants with a diagnosis of tuberous sclerosis complex (TSC) and no history of seizures for a new study on prevention of epilepsy. The goal of this project is to use EEG, behavioral testing and early use of vigabatrin to help determine the developmental impact of epilepsy from birth to 36 months of age.

What will we do? If you agree to participate, the research team will obtain your informed consent. The study involves up to 13 visits over a three year period. The study visits will include behavioral testing, EEGs, eye exams, and physical exams, optional blood draws.

Cost/time commitment:  Study visits will vary in length based on your child’s age, but generally be a few hours in time. There is no fee to participate in this study. Travel funding may be available.

Results:  Summary scores of your child’s behavioral testing and EEG results will be provided to you. Every step of the way, if new results from the testing are concerning, we will notify you and assist you in obtaining referrals or interventions. After all study data has been analyzed, we will inform families of the overall results.

Contacts:  If you are interested in learning more, download the study flyer and/or contact Regina Ryan, PREVeNT Project Manager, at prevent@uabmc.edu or 205-975-2890.

A Double-blind, Randomized, Placebo-Controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-On Therapy in Patients with Tuberous Sclerosis Complex Who Experience Inadequately-Controlled Seizures (Valid through July, 2017)

How long is the study? Study length: 5 weeks of baseline and 16 weeks of treatment followed by a one year Open Label Extension.

Who is eligible? Participants must have a well-documented history of epilepsy as well as a TSC diagnosis confirmed by clinical exam or genetic testing consistent with the criteria set forth in the 2012 International TSC Consensus Conference. All medications or interventions for epilepsy must be stable for one month prior to the trial.

Participants must not be currently using or have in the past 3 months prior to screening used recreational or medicinal cannabis, or cannabinoid-based medications. Participants must be willing to abstain from any cannabis exposure for the duration for the study.  Read more about the study’s eligibility criteria.

Note: Participants will be randomly assigned to either placebo or active treatment groups (added to their existing medications). All patients who complete the trial will be invited to participate in the open label extension, where all receive active treatment. Travel assistance may be provided on a case by case basis, if required.

Please review the full summary of criteria. If you believe you are eligible to participate, contact JNakagawa@tsalliance.org or medinfo.usa@gwpharm.com.

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex

We are enrolling individuals between the ages of 3 and 21 years old with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) and/or intellectual disability (ID) for a new study. The goal of this study is to gain a better understanding of ASD/ID in individuals with TSC so that effective treatments and interventions for ASD/ID can be found.

Where is this study taking place?  Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles, University of Texas at Houston

Who are the Principal Investigators?  Mustafa Sahin, MD, PhD (Boston), Darcy Krueger, MD, PhD (Cincinnati), Martina Bebin, MD (Birmingham), Joyce Wu, MD (Los Angeles), Hope Northrup, MD (Houston)

Who is eligible to participate? English-speaking individuals diagnosed with TSC and autism spectrum disorder and/or intellectual disability who are not currently taking cannabidol oil are eligible to participate in this study if they are between the ages of 3 and 21 years old.

What will we do?  The study involves five visits over a two year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include blood draws, physical/neurological exams and behavioral testing.

What is the time commitment/cost to participate?  There is no fee to participate in this study, and there will be no financial compensation for participation in this study.

What are results are provided? Summary scores of your child’s behavioral testing will be provided to you.

Contact Information

Erin.Carmody@Childrens.harvard.edu

Get Involved!  Join our RDCRN Contact Registry to learn more about new and ongoing research studies, TSC news, and more. Visit www.rdcrn.org/dsc/registry to sign up and learn more.

Free Early Intervention Study for Infants with TSC at UCLA and Boston Children’s Hospital

Click here for information on the UCLA site and here for Boston.

A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients with Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures (Valid through July, 2017)

Download the study flyer and Glossary of Cannabinoid Terms for more information.

Lungs

The Sirolimus and Autophagy Inhibition in LAM (SAIL) research trial is currently seeking women with LAM

Brigham and Women’s Hospital, in Boston, MA is currently enrolling women with Lymphangioleiomyomatosis (LAM) in a clinical trial to test the safety of sirolimus (Rapamycin) in combination with hydroxychloroquine. All subjects will receive study drug provided by the trial.  Participation requires 7 visits over 1 year and involves physical exams, blood and urine samples, X-rays, CT scans, MRIs, breathing tests, exercise tests, questionnaires, and an at-home diary. For more information including risks and study procedures please contact Betsy Peters, RN at 617-525-9331 or email at epeters2@partners.org.

Study of the Disease Process of Lymphangioleiomyomatosis

Role of Genetic Factors in the Development of Lung Disease

Dr. David Kwiatkowski at the Brigham & Women’s Hospital in Boston Seeks Biospecimens for LAM/TSC Research  

His research involves analyzing left over fluid and tissue samples from chest and abdominal drains and surgery. After the fluid or tissue is removed and processed by your hospital, he will use it to try to grow LAM/TSC cells in order to better understand the disease.  There will be no additional medical tests for you and no cost to participate. If you are willing to donate such specimens, he would like to have the samples collected and sent to his lab through the NDRI Private Donor Program. The NDRI is a nonprofit organization funded by the NIH which facilitates the transfer of these precious biospecimens to a number of labs for these kinds of studies. Please contact the NDRI at 800-222-6374 or privatedonorprogram@ndriresource.org.  It is helpful to register as a donor well in advance of any procedures.  Thank you for your participation.

Researcher Seeking Donation of Tissue Samples from Your Surgery

Dr. Elizabeth (Lisa) Henske’s laboratory (HenskeLab.org) has a new project to develop cellular models of LAM and angiomyolipomas to catalyze translational research. Please contact us if you are considering lung transplantation or any type of surgery. We are actively seeking tissue specimens from LAM, angiomyolipomas, lung transplantation, chylous fluid, uterine fibroids or tumors, or any other tissue or specimen from individuals with LAM or TSC. Please provide as much advance notice as possible so that the tissue can be properly collected. Please contact Lisa Henske at EHenske@BWH.Harvard.edu or 857-307-0782 if you are considering any type of surgery or biopsy.  (Valid through October 23, 2016)


Skin

Study of Skin Tumors in Tuberous Sclerosis


Genetics

Research Study for Individuals in Whom No Mutation Identified 

Dr. David Kwiatkowski, Brigham and Women’s Hospital, Harvard Medical School, is seeking TSC individuals in whom no mutation can be identified by the usual techniques, to participate in a research study to attempt to identify disease-causing variants in TSC1 or TSC2 using biopsies of TSC skin lesions, and determine the extent of mosaicism in these individuals. We are seeking TSC individuals who are of reproductive age, who seek help with consideration of child-bearing options.  To participate in this study, individuals with TSC must meet the following criteria: 1) have a definite diagnosis of TSC by an expert doctor; 2) have undergone molecular testing for TSC1/TSC2 mutations by an expert lab with no finding; 3) be willing to have a biopsy of a skin lesion of TSC which could be sent to the Kwiatkowski lab for analysis; 4) be willing to donate both saliva and blood samples for DNA analysis; 5) be of age > 17 years. If you meet these criteria and are interested in participating, please contact Dr. Kwiatkowski at dk@rics.bwh.harvard.edu.


Other Studies

Donate Newly Lost Teeth for Cell Research 

New research at the University of Tennessee shows that nerve cells can be grown from the dental pulp of lost teeth. Your child’s lost teeth may be the key to understanding how the mutation affects these important nerve cells. Download the flyer for more information.

What is a clinical trial?

A clinical trial (also called clinical research) is a research study using human volunteers designed to determine the safety and effectiveness of a drug, biologic (such as a vaccine), device (such as a prosthesis) or other treatment or behavioral intervention. Carefully conducted clinical trials are the fastest and safest way to find treatments that work in people and methods to improve health. Interventional trials determine whether experimental treatments or new ways of using known therapies are safe and effective under controlled environments. Observational trials address health issues in large groups of people or populations in natural settings.

Why participate in a clinical trial?

Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research.

Who can participate in a clinical trial?

All clinical trials have guidelines about who can participate. The factors that allow someone to participate in a clinical trial are called “inclusion criteria” and those that disallow someone from participating are called “exclusion criteria.” Using inclusion and exclusion criteria is an important principle of medical research that helps to produce reliable results. These criteria are based on such factors as age, gender, the type and stage of a disease, previous treatment history, and other medical conditions.

Before joining a clinical trial, a participant must qualify for the study. Some research studies seek participants with illnesses or conditions to be studied in the clinical trial, while others need healthy participants. It is important to note that inclusion and exclusion criteria are not used to reject people personally. Instead, the criteria are used to identify appropriate participants and keep them safe. The criteria help ensure that researchers will be able to answer the questions they plan to study.

What happens during a clinical trial?

The clinical trial process depends on the kind of trial being conducted.  The clinical trial team includes doctors and nurses as well other health care professionals. They check the health of the participant at the beginning of the trial, give specific instructions for participating in the trial, monitor the participant carefully during the trial, and stay in touch after the trial is completed. Some clinical trials involve more tests and doctor visits than the participant would normally have for an illness or condition. For all types of trials, the participant works with a research team.

Clinical trial participation is most successful when the protocol is carefully followed, including frequent contact with the research staff.  The protocol is a study plan on which all clinical trials are based. The plan is carefully designed to safeguard the health of the participants as well as answer specific research questions.

A protocol describes what types of people may participate in the trial; the length of the study; and if applicable, the schedule of tests, procedures, medications, and dosages. Participants in an interventional (treatment) clinical trial are seen regularly by the research staff to monitor their health and to determine the safety and effectiveness of their treatment.  Whereas, there are other types of research trials that involve interviews, questionnaires, or surveys instead of interventional treatment.

What is informed consent?

Informed consent is the process of learning the key facts about a clinical trial before deciding whether to participate. It is also a continuing process throughout the study to provide information for participants. To help someone decide whether to participate, the doctors and nurses involved in the trial explain the details of the study. If the participant’s native language is not English, translation assistance can be provided. Then the research team provides an informed consent document that includes details about the study, such as its purpose, duration, required procedures, and key contacts. Risks and potential benefits are explained in the informed consent document. The participant then decides whether to sign the document. Informed consent is not a contract, and the participant may withdraw from the trial at any time.  If a participant is a non-English speaking person, federal guidelines require a version of the consent form be provided in a language the participant can understand.

What is a protocol?

A protocol is a study plan on which all clinical trials are based. The plan is carefully designed to safeguard the health of the participants as well as answer specific research questions. A protocol describes what types of people may participate in the trial; the schedule of tests, procedures, medications, and dosages; and the length of the study. While in a clinical trial, participants following a protocol are seen regularly by the research staff to monitor their health and to determine the safety and effectiveness of their treatment.

What is a placebo?

A placebo is an inactive pill, liquid, or powder that has no treatment value. In clinical trials, experimental treatments are often compared with placebos to assess the experimental treatment’s effectiveness. In some studies, the participants in the control group will receive a placebo instead of an active drug or experimental treatment.

What is a control or control group?

A control is the standard by which experimental observations are evaluated. In many clinical trials, one group of patients will be given an experimental drug or treatment, while the control group is given either a standard treatment for the illness or a placebo.

Do I get to choose which group (experimental or control) to participate in?

No, each person who agrees to participate in a clinical trial that compares an experimental medicine or device with a standard treatment or placebo is randomly assigned (that is by chance) to one or the other group.  In general, the participant and the research team do not know the group assignment until after the study is completed.

What difference does it make if I know (or the research team knows) that I am in the experimental or control/placebo group?

Knowledge of this information may influence a participant’s or study team’s reporting of how things are going in the study.   For example, if the participant and/or study team knows that the participant is in the experimental group, an adverse event such as a skin rash might be reported as being “likely” related to the experimental medicine, instead of “possibly related”.  Or the participant might report adverse events more frequently than if he/she was unaware of the group assignment.   However, if the participant and/or study team knows that the participant is in the control/placebo group, the skin rash would be reported as “unrelated” and more importantly, the participant in this group might report worsening of his/her illness or condition, when there has been no change.

What does “single-blind” or “double-blind” mean?

“Blinding” is a procedure in which one or more persons in the research trial are kept unaware of the treatment assignment(s).  Single-blind usually means that the research participant is not told of the treatment assignment.   Double-blind usually means that the research participant, investigator, study coordinator/nurse, study sponsor, and in some cases the data analyst are kept unaware of the treatment assignment.  The purpose of a “blinded” study design is to remove the unintentional bias that can affect the interpretation of the research information that is collected, if the treatment assignment is known.

What are the benefits and risks of participating in a clinical trial?

Benefits:

Well-designed and well-executed clinical trials provide the best approach for eligible participants to:

  • Play an active role in their health care decisions.
  • Gain access to new research treatments before they are widely available.
  • Obtain expert medical care at leading health care facilities during the trial.
  • Help others by contributing to medical research.

Risks:

Clinical trials entail risks, which may include:

  • There may be unacceptable worsening of the illness or condition if the participant is randomly assigned to a control group and/or receives a placebo.
  • There may be unpleasant, serious or even life-threatening side effects to experimental treatment.
  • The experimental treatment may not be effective for the participant.
  • The protocol may require more of their time and attention than would a non-protocol treatment, including trips to the study site, more treatments, hospital stays or complex dosage requirements.

What happens if my illness or condition gets worse while participating in a trial?

A participant has the right to withdraw his/her participation in a clinical trial at any time for any reason including unacceptable worsening of his/her illness or condition regardless of whether or not it is related to the study.   It is important for the participant to read the consent form carefully to understand what the consequences (if any) are for early withdrawal from the study.

Is an “adverse event” the same as a “side effect”?

No, these two terms do not have the same meaning.  An adverse event (or experience) describes an unfavorable event or experience that occurs after a participant begins the research study. The event or experience may be reported by the research participant (such as “I was feeling dizzy all day”) or observed by the researcher (such as an abnormal lab test result).  The occurrence of an unfavorable experience or event does not necessarily mean that it is associated with (or caused by) the experimental drug, device or treatment.  Generally, an adverse event/experience is considered a “side effect” when it occurs much more frequently in participants who are in the experimental group than in the control group and there isn’t a reasonable explanation for the occurrence of the event.

What should people consider before participating in a trial?

People should know as much as possible about the clinical trial and feel comfortable asking the members of the health care team questions about it, the care expected while in a trial, and the cost of the trial. The following questions might be helpful for the participant to discuss with the health care team. Some answers should be addressed in the informed consent document.

  • What is the purpose of the study?
  • Who is going to be in the study?
  • Why do researchers believe the experimental treatment being tested may be effective? Has it been tested before?
  • What kinds of tests and experimental treatments are involved?
  • How do the possible risks, side effects, and benefits in the study compare with my current treatment?
  • How might this trial affect my daily life? How long will the trial last?
  • If I am assigned to a control or placebo group, will I be given a chance to receive the experimental drug/device/treatment later on?
  • Will hospitalization be required?
  • Who will pay for the experimental treatment?
  • Will I be reimbursed for other expenses?
  • What type of long-term follow-up care is part of this study?
  • How will I know that the experimental treatment is working?
  • Will results of the trials be provided to me?
  • Who will be in charge of my care?
  • What if I change my mind about participating in the study?

Where do the ideas for trials come from?

Ideas for clinical trials usually come from researchers. After researchers test new therapies or procedures in the laboratory and in animal studies, the experimental treatments with the most promising laboratory results are moved into clinical trials. During a trial, more and more information is gained about an experimental treatment, its risks and how well it may or may not work.

What are the different types of clinical trials?

  • Interventional or Treatment trials test experimental treatments, new combinations of drugs, or new approaches to surgery or radiation therapy.
  • Prevention trials look for better ways to prevent disease in people who have never had the disease or to prevent a disease from returning. These approaches may include medicines, vitamins, vaccines, minerals, or lifestyle changes.
  • Diagnostic trials are conducted to find better tests or procedures for diagnosing a particular disease or condition.
  • Screening trials test the best way to detect certain diseases or health conditions.
  • Quality of Life trials (or Supportive Care trials) explore ways to improve comfort and the quality of life for individuals with a chronic illness.

What are the phases of clinical trials?

PHASE I TRIALS: These studies include the initial introduction of new drugs, usually in healthy human volunteers, to determine how the human body metabolizes the drug and what the associated side effects are with increasing doses.  Generally, less than 100 volunteers participate in this type of study.


PHASE II TRIALS: These are controlled clinical studies conducted to evaluate the effectiveness of a drug or device for a particular symptom or symptoms in patients with the disease or condition under study and to determine the common adverse effects and risks.   These types of studies generally involve no more than several hundred participants.


PHASE III TRIALS: These are larger controlled and uncontrolled studies conducted after preliminary evidence suggests effectiveness of an investigational drug or device.  These studies generally involve several hundred to thousands of participants to gather additional information about effectiveness and safety and adequate basis for physician labeling.


PHASE IV TRIALS: These studies are commonly referred to as “post-marketing” studies because they are generally conducted concurrent with or after marketing approval to obtain additional information about risks, benefits, and optimal use of a drug or device.   These studies could include, but would not be limited to, studying different doses of a drug that were not administered during Phase II trials, or use of a drug/device in other patient populations.

For More Information

One of the 20 institutes at the U.S. National Institutes of Health (NIH) is the U.S. National Library of Medicine (NLM).   The NLM developed a website that provides regularly updated information about clinical research in human volunteers — www.clinicaltrials.gov, where you will find additional links to other medical research resources, such as:

  • Access to all clinical trials
  • A glossary of terms related to clinical trials
  • MedlinePlus – an access to medical journals and latest health news
  • Genetics Home Reference – a guide to understanding genetic conditions
  • Information about research supported by NIH

You will also find additional information at The Center for Information and Study on Clinical Research Participation and Children and Clinical Trials.