CRF Research Efforts

The Choroideremia Research Foundation (CRF) has provided over $4 million in research grants to help find treatment options and a cure for Choroideremia (CHM).

If you are interested in applying for funding, please visit: 

https://www.curechm.org/research/#funding

View list of grants awarded

Clinical Trials

While there is no treatment or cure for Choroideremia, there are clinical trials underway testing potential treatments for CHM. Individuals interested in being part of a clinical trial or 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. Please visit https://www.curechm.org/for-medical-professionals/#testing for more information. 

Please note that any information regarding clinical trials or genetic testing is provided for informational purposes only. The Choroideremia Research Foundation does not endorse any specific company, clinical trial or genetic test. Please discuss any questions you may have with your healthcare provider.

A number of clinical trials and natural history studies for Choroideremia are currently available and listed on the National Institutes of Health’s clinicaltrials.gov website.

National Institutes of Health logo

 

Click here for basic information on clinical trials.

Click here for information for patients and families.

 

NCBI Logo

Click here to visit the National Center for Biotechnology Information’s website and view a comprehensive list of companies worldwide which offer genetic testing for choroideremia.

Join the International Choroideremia Research Network (ICRN)

The International Choroideremia Research Network (ICRN) is a global collaboration of research groups from renowned institutions who are working in concert to improve knowledge about choroideremia etiology, prevention, early detection, treatment, and prognosis. The network is comprised of highly talented individuals from a spectrum of disciplines, perspectives, and research methods who share a passion to make significant scientific advances to improve outcomes for patients with choroideremia.

To learn more and to join, click here.

CHM Eye Donation

Donate Your Eyes for Sight-Saving Research!

As an eye donor, gifting your eyes for choroideremia (CHM) research after your death is a heroic act. By studying this donated tissue, researchers will better understand the disease pathology and strive to develop new treatments and a cure for CHM.

To facilitate this effort, the Choroideremia Research Foundation has initiated a new collaboration with Eversight, a nonprofit organization whose mission is to restore sight and prevent blindness through the healing power of donation, transplantation, and research. Via Eversight, male CHM patients and female CHM carriers can donate their eyes for research in the states of MI, IL, OH, NJ and CT. Eye donation in other states may be arranged through local eye banks that are members of the Eye Bank Association of America. Together, we can deliver retinas affected by CHM to the researchers who need them, such as Malia Edwards, PhD, Assistant Professor of Ophthalmology at Johns Hopkins Medicine in Baltimore, Maryland.

Dr. Edwards states, “It is impossible to overemphasize the value of eye donations to research. While animal models and cell culture experiments can help us understand choroideremia, these do not compare to the knowledge we gain by investigating eyes from CHM patients. Eye donations allow scientists to study changes to individual cells and types of cells, helping us understand why vision is lost. Donations from carriers are particularly crucial because the milder vision changes they may experience will help explain disease progression of CHM even more than looking at the late stage of the disease in eyes from CHM patients. Through eye donation, all those affected by CHM can help us understand this devastating disease which will lead to improved treatment and impact the lives of future patients.”

Eyes can be donated for CHM research regardless of age, race, or medical history. Some people wonder if their religion is opposed to eye donation. Rest assured that most faiths support these donations as the ultimate act of charity. It is also important to remember that eyes are typically removed and disposed of by funeral homes for open-casket funerals and of course lost when cremation is chosen. Check with your minister, pastor, rabbi, imam, or other religious leaders if you have questions.

There are several steps you will need to take if you wish to donate your eyes for CHM research:

1. Once an individual decides they would like to donate their eyes for CHM research, they should notify their family of their wishes.

2. The donor should contact CRF to let them know they are interested in donating their eyes and complete both the CHM Eye Donation Consent Form and the CHM Eye Donor Wallet Cards.

3. Upon the donor’s passing, family should notify both CRF at info@curechm.org and their nearest Eye Bank, which can be found at https://restoresight.org/who-we-are/find-an-eye-bank/

Please note that donating your eyes for CHM research cannot be accomplished simply by signing the organ donor information portion of your driver’s license. Eye donation for CHM research is a separate process that can only be accomplished by working with CRF and Eversight or your local eye bank.

To learn more about becoming a CHM eye donor, contact Eversight at 866-898-4391 and they can further explain how you can make your eye donation wishes known.

By becoming a choroideremia eye donor, you can be proud knowing you are helping to improve the quality of life for all CHMers now and in the future.

CHM Evolving Therapies

Gene Therapy

Genetic diseases like choroideremia are caused by a mutation, or defect, in the body’s DNA.  These genetic mutations prevent the body from producing a beneficial protein necessary for certain cells to survive.  Gene therapy is a type of treatment for genetic diseases in which the normal gene is delivered into the affected cells, enabling the cells to produce this protein and restore normal cellular function.

Scientists have tapped into the ability of viruses, like the common cold virus, to penetrate into the cells in the human body. Certain viruses have been modified to prevent them from causing disease in people while still maintaining their ability to enter into cells. These modified viruses, called vectors, have been engineered to carry a normal copy of the choroideremia gene into the body’s cells and restore their normal function and health. Gene therapy for choroideremia is delivered through an injection into the back of the eye to provide the vector directly to the affected cells. Clinical trials are ongoing to test the safety and the effectiveness of gene therapy for treating choroideremia patients.

Stem Cell Research

Stem cells are referred to as progenitor cells, which means they can develop into almost all other cells in the body.  Historically, stem cells were only obtained from embryos which created significant controversy. Recent developments, however, have enabled scientists to take a blood or skin sample from an individual and create stem cells from these tissue samples. These stem cells, referred to as Induced Pluripotent Stem Cells, or iPSC’s, can then be influenced to evolve into other cell types in the body by following specific scientific protocols.  With these techniques, scientists can use iPSC cells to create specific retinal cells, called photoreceptors and retinal pigment epithelium (RPE) cells, which are the cell types lost in choroideremia. Scientists are working to organize these iPSC-derived photoreceptors and RPE cells into transplant patches which could be used to replace areas of vision loss.

By creating iPSC’s cells from choroideremia patients, scientists can study the disease and learn more about its progression at a microscopic level. This information can help scientists to better understand the patient history of choroideremia in conjunction with tests done at the doctor’s office. In addition, future treatments can be tested on these iPSC’s cells rather than on animal models of choroideremia which may not respond in the same way as humans.

Pharmacological Therapy

Scientists are working to develop and test medications which can slow down or stop the progression of vision loss.

The genetic defect in choroideremia causes specific cells in the retina to gradually stop functioning normally. Eventually these cells die off, causing vision loss. Scientists are researching different types of compounds called neuroprotective agents that can improve the health of the retina by keeping these affected cells functioning and surviving longer, thereby slowing the progression of vision loss. Another area of research involves a type of experimental medication called read-through agents. These medications are specifically designed to treat certain types of gene mutations called nonsense mutations, which interrupt the production of the choroideremia protein causing it to be too short and not function. Read-through agents convince the body’s machinery to ignore this genetic “stop sign” and produce the full-length protein, which enables normal function to affected cells. Read-through agents are being tested in clinical trials for other diseases like Duchenne’s Muscular Dystrophy and Cystic Fibrosis.

Retinal Prosthetics

Retinal prosthetics research is underway which may be able to provide an alternative to natural vision.

While users will not regain sight as most people know it, the technology offers the ability to distinguish and interpret light patterns, recognize outlines of basic shapes, people and movement, and improve the ability to navigate more independently throughout the world.

Research BioBank

In 2014, CRF established a Choroideremia BioBank in order to expedite CHM research globally with readily accessible CHM cellular samples for preclinical research. Coriell Institute’s NIGMS Human Genetic Cell Repository houses these CHM lines, all of which have passed their stringent verification and quality control protocols. The CHM lines include iPSC, fibroblasts, DNA, LCL and skin.

Access to these cell lines in the CHM BioBank are via www.coriell.org. For a listing of the CHM cell lines click the button below.

CHM Cell Line Listing

WiCell also has select Choroideremia (hiPSC) available: Click the button below for cell lines.

Additional CHM Cell Lines

Other Research Resources

Visit Google Scholar

Google Scholar provides a simple way to broadly search for scholarly literature.

Visit PubMed

PubMed comprises citations for biomedical literature, life science journals, and online books.

Apply for Funding

Our objective is finding a cure or effective treatment for choroideremia.

Accomplishing this goal relies on:

  • Research that provides essential resources and knowledge for the field (e.g. model systems, understanding genetic underpinnings, annotated patient specimens)
  • Innovative research that opens new pathways for diagnosis and drug discovery
  • Promising projects that are less likely to get traditional funding such as:
    • Seed funding for hypothesis-generating projects
    • High quality projects proposed by young investigators
    • Foundational projects with an important but long-term payoff

If you are interested in submitting a request for funding please format your application as specified in the Grant Application Guidelines.  Applications are accepted on a rolling basis and should be submitted to both Kathi Wagner, Executive Director, and Jess Thompson, MD, Research Committee Chair.

Science Advisory Board

Ian MacDonald, MD Headshot

Ian MacDonald, MD (chair) Professor, Department of Medical Genetics, University of Alberta Edmonton, Alberta, Canada

Tomas Aleman, MD headshot

Tomas Aleman, MD Associate Professor of Ophthalmology at the Hospital of the University of Pennsylvania, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania

Kapil Bharti, PhD headshot

Kapil Bharti, PhD Senior Investigator, Ocular and Stem Cell Translational Research Unit, National Institutes of Health, Intramural Research Program Bethesda, Massachusetts

Sanford Boye, MS headshot

Sanford Boye, MS Associate Scientist, Department of Ophthalmology, Shannon E. Boye Laboratory, University of Florida Health Gainesville, Florida

Shannon Boye, PhD headshot

Shannon Boye, PhD Associate Professor, Department of Ophthalmology, Shannon E. Boye Laboratory, University of Florida Health Gainesville, Florida

Jacque Duncan, MD headshot

Jacque Duncan, MD Professor in Ophthalmology, University of California San Francisco San Francisco, California

Rachel Huckfeldt, MD, PhD headshot

Rachel Huckfeldt, MD, PhD Associate Surgeon and Director, Inherited Retinal Degenerations Fellowship, Massachusetts Eye and Ear; Assistant Professor of Ophthalmology, Harvard Medical School Boston, Massachusetts

Alex Iannaccone, MD, MS, FARVO headshot

Alex Iannaccone, MD, MS, FARVO Director, Center for Retinal Degenerations and Ophthalmic Genetic Diseases, and Professor, Ophthalmology, Duke University Department of Ophthalmology Durham, North Carolina

Mark Pennesi, MD, PhD headshot

Mark Pennesi, MD, PhD Assistant Professor in Ophthalmic Genetics, Oregon Health and Science University (OHSU) Casey Eye Institute Portland, Oregon

Stephen Tsang, MD, PhD headshot

Stephen Tsang, MD, PhD Professor of Ophthalmology and Professor of Pathology and Cell Biology, Columbia University Department of Pathology and Cell Biology New York, New York

Ajoy Vincent, MBBS, MS headshot

Ajoy Vincent, MBBS, MS Staff Ophthalmologist, Ophthalmology and Vision Sciences; Medical Director, Visual Electrophysiology Unit; Associate Scientist Genetics and Genome Biology Research Institute, The Hospital for Sick Children Toronto, Ontario, Canada

Michael Young, PhD, FARVO headshot

Michael Young, PhD, FARVO Associate Professor of Ophthalmology, Co-Director, Ocular Regenerative Medicine Institute; Director, Minda de Gunzburg Center for Retinal Regeneration, Harvard Medical School; Associate Scientist, Schepens Eye Research Institute of Massachusetts Eye and Ear Boston, Massachusetts

Chris Moen, MD headshot

Chris Moen, MD Chief Medical Officer, Choroideremia Research Foundation Medical Director, NaviHealth Wilmington, Delaware

Jess Thompson, MD

Jess Thompson, MD, MS Chair, Research Committee, Choroideremia Research Foundation Yavapai Cardiac Surgery Prescott, Arizona

Choroideremia Research Foundation logo icon in white

Join the CRF Science Advisory Board

If you are interested in joining our Science Advisory Board, please contact:
Dr. Jess Thompson, Research Committee Chair, at (800) 201-0233 x 2 or info@curechm.org for more information.

DONATE

The search for a cure to CHM is not possible without our generous supporters.