Clinical Trials

While there is no current treatment or cure available for Choroideremia, there are a number of Clinical Trials currently underway testing potential treatments for CHM.  Individuals interested in being part of a Clinical Trial, or eventually being treated for CHM when a treatment or cure becomes available will need to have had a Genetic Test to confirm their diagnosis of Choroideremia.  These tests involve a simple blood draw that is sent off to an accreditted lab where a diagnosis of CHM can be confirmed at a genetic level.  Click Here to learn more about genetic testing.

 

CLINICAL TRIAL INFORMATION FOR PATIENTS AND CAREGIVERS

Understanding what a clinical trial is, and how the experience differs from just receiving a treatment, is helpful in determining whether a clinical trial is right for you, a friend, or a family member.  Please take the time to refer to each one of the Frequently Asked Questions in the Tabs below to gain a better understanding of clinical trials and whether applying for one would be the right thing for you.

 

CURRENT CHOROIDEREMIA CLINICAL TRIALS

USA:  

Children’s Hospital of Philadelphia and the University of Pennsylvania
Spark Therapeutics

Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene Mutations

 

Bascom Palmer Eye Institute, University of Miami

Nightstarx

Choroideremia Gene Therapy Clinical Trial

www.bascompalmer.org

 

CANADA:  

University of Alberta
NightstaRx

An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia

www.chmgenetherapy.ca

 

UK:

University of Oxford
NightstaRx

Gene Therapy for Blindness Caused by Choroideremia

University of Oxford webpage

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WHAT IS A CLINICAL TRIAL?

Clinical trials are research studies testing experimental medications on humans. These trials are the result of many years of laboratory research to better understand Choroideremia and to determine how to treat the disease. These years of research also typically involve testing of the experimental treatment in animals to determine whether it might be successful in humans. A clinical trial is designed to determine whether a potential treatment is safe and effective for humans. A clinical trial has a designated individual in charge, also known as the principal investigator. This person is typically a doctor and is responsible for the trial protocol, which explains the plan for the trial and how they will identify patients to participate.

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WHAT ARE THE PHASES OF CLINICAL TRIALS?

Clinical trials are typically divided into phases, or steps.  Trials must show success in one phase before moving on to the next phase.  Phases 1 and 2 are used to determine whether a treatment is safe for use in humans.  They also help to identify side effects of the proposed treatment, as well as the most effective dose of the therapy being tested.  Phase 3 trials identify whether the treatment works better than the currently available therapy.  For diseases that affect a small number of people like Choroideremia, 2 of these 3 phases may be combined.

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WHY ARE CLINICAL TRIALS NECESSARY?

When scientists develop new experimental treatments, it is unknown whether they will be safe and effective.  Sometimes experimental treatments that are successful in an animal model may not have the same results in humans.  Clinical trials provide a standard way to test these therapies to ensure that they will be safe and effective for humans.  While many clinical trials lead to successful treatments, others show that the treatment being tested does not work or is unsafe.

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SHOULD I ENROLL IN A CLINICAL TRIAL?

The decision to enroll in a clinical trial is an important one and is not for everyone.  There are both benefits and risks of being involved in a clinical trial, and you should consider both when making a decision.

Benefits

  • – You can receive an experimental treatment earlier than the rest of the population.
  • – You will be closely monitored by the research team, who will perform a wide variety of tests during the study.
  • – If the treatment is found to be successful, you will be among the first to have received it.
  • – The clinical trial can help scientists understand Choroideremia better and may have an impact on future research or treatments.

Risks

  • – The treatment could be no better or potentially worse for you than standard therapy.
  • – The treatment may cause side effects that could impact you in many ways.
  • – You will be required to make many trips to see the research team that may create extra expenses for you, such as travel or child care costs.
  • – You will undergo a variety of tests that you normally would not require at your typical doctor visit. Some of these tests may be uncomfortable or time-consuming.
  • – Your health insurance may not cover all of your costs through the clinical trial.
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HOW DO I JOIN A CLINICAL TRIAL?

If you decide to be involved with a clinical trial, you will need to contact the study coordinator or another member of the research team.  Each clinical trial is required to post information about the trial and contact information.  This information can be found at www.clinicaltrials.gov.

Each clinical trial has specific criteria called inclusion and exclusion criteria to determine who should – and should not – be included in the trial.  These criteria help to reduce the medical differences among people in the trial, which makes it easier for researchers to determine if the treatment works.  Also, some individuals may have health problems that could put them at risk during the clinical trial.  You should view these criteria and discuss them with your doctor or the study coordinator to determine whether you are eligible.

The CRF recommends that all patients have genetic testing, or genotyping, performed.  Genotyping is a blood test that identifies the genetic mutation that is causing your eye disease.  Patients will be required to have been genotyped before being considered in most clinical trials for Choroideremia.  Learn more about Project CHM here.

In addition, the CRF recommends that all patients enroll in My Retina Tracker, an online patient registry sponsored by the Foundation Fighting Blindness.  My Retina Tracker allows patients to input information about themselves and their eye disease so that investigators running a clinical trial can find them more easily.  For more information, go to My Retina Tracker’s website.

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WHAT CLINICAL TRIALS ARE BEING DONE FOR CHOROIDEREMIA?

Patients with Choroideremia could benefit from a variety of different approaches to treat their disease.  Some of these treatments would slow or stop vision loss, while others could restore lost vision.  Currently, ongoing clinical trials are testing gene replacement therapy, which could stop the progression of vision loss.  Choroideremia patients with little to no vision could also benefit from retinal prosthetics.  Two prosthetic devices have been through clinical trials and are approved for use in humans.  The Argus II prosthetic is approved in the USA, and the Alpha IMS is approved for use in Europe.

Future clinical trials for Choroideremia could involve a variety of different types of treatments, including:

  • – Further gene replacement therapy studies
  • – The use of medications to support retinal health and slow CHM progression
  • – Stem cell transplantation
  • – Optogenetics, a technique which reprograms other remaining retinal cells to sense light and restore vision
  • – Future retinal prosthetic appliances
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NATURAL HISTORY STUDIES

A Natural History of Disease study is a valuable tool for scientists and clinicians to understand the natural progression of a particular disease. As little is known about the progression of Choroideremia, Natural History studies are being conducted to help scientists understand the mechanism of the disease, how the retina is impacted over time and ultimately to support the quest to find effective treatments. Studies of this type typically require participants to visit an investigational site a number of times and undergo common ophthalmological examinations.

Several Investigator sites are currently conducting Natural History Studies and you are encouraged to take part. If you would like to be considered for participation in a Natural History Study, please visit the following site for further information on Nightstarx Natural History Studies: https://www.nightstarx.com/patients/research

and for Natural History Studies by 4D Molecular Therapeutics visit the Clinicaltrials.gov page at:

https://clinicaltrials.gov/ct2/show/NCT02994368?term=choroideremia&rank=4

Clinical Trials