Research2019-11-22T09:32:34-05:00

CRF Research Efforts

Since the inception of the Choroideremia Research Foundation (CRF) in 2000, the organization has provided over $3 million in research grants to help find treatment options and a cure for Choroideremia (CHM).

View list of grants awarded

Choroideremia (CHM) Research News

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 accredited lab where a diagnosis of CHM can be confirmed at a genetic level. Please note that any information regarding clinical trials or genetic testing is being 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.

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Click here for basic information on clinical trials.

Click here for information for patients and families.


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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.

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 this protein to be produced 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 currently 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.  However, recent developments 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 IPs cells, can then be influenced to evolve into other cell types in the body by following specific scientific protocols.  With these techniques, scientists can use IPs cells to create specific retinal cells, called photoreceptors and retinal pigment epithelium (RPE) cells, which are the cell types lost in Choroideremia.  Scientists are currently working to organize these IPs-derived photoreceptors and RPE cells into transplant patches which could be used to replace areas of vision loss.

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

Pharmacological Therapy

Doctors commonly prescribe medications to treat a wide variety of diseases affecting the human body.  For Choroideremia and other retinal diseases, 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, and eventually these cells die off causing vision loss.  Scientists are researching different types of compounds that can help to keep these cells healthy.  These medications, called neuroprotective agents, 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 specific type of experimental medications 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 and health 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

Vision loss in Choroideremia progressively continues until people lose all their sight. For these individuals, retinal prosthetics research is underway which may be able to provide an alternative to natural vision.

One example of this technology is the Argus II by Second Sight which has been approved by the FDA for use in patients with Retinitis Pigmentosa, a similar retinal disease. Other similar products are currently in development. 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.

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

Frans Cremers, PhD headshot

Frans Cremers, PhD
Professor, Ophthalmogenetics, Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
Nijmegen, Netherlands

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

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