$1.3 million awarded to University of Alberta team will enable a clinical trial of a potential treatment for choroideremia!

 The Foundation Fighting Blindness and the Choroideremia Research Foundation Canada are joining with federal funders at the Canadian Institutes of Health Research (Institute of Genetics and the Institute of Neurosciences, Mental Health and Addiction) to announce a $1.3 million research partnership studying the use of gene therapy for choroideremia.

With a five- year funding commitment from this research partnership, Dr. MacDonald, Chair of the Department of Ophthalmology in the Faculty of Medicine & Dentistry at the University of Alberta, and his colleagues will initiate the first human clinical trial of a treatment for choroideremia in Canada, and continue their investigations of the disease’s underlying causes. The project team will also look at how information is communicated to potential patients about gene therapy research and clinical trials.

Gene therapy is emerging as a potential treatment for rare inherited conditions, where a mutation in a single gene causes disease. “Gene therapy for choroideremia aims to insert a healthy copy of the REP-1 gene into the cells of the retina,” says Dr. MacDonald, “allowing these cells to produce the proteins absent in men with this condition. If successful, the therapy would have the potential to restore some visual function and prevent further vision loss.” Gene therapies are now being studied for several blinding genetic diseases, but none of these potential treatments have yet completed clinical trials, or been approved as therapy.

“Bringing the research to this point has truly been an international effort,” says Robert Hillier, President of the Choroidermia Research Foundation Canada, “and Canadian scientists, such as Dr. MacDonald, have been leaders in that effort. By partnering with CIHR and the Foundation Fighting Blindness we hope to change the future for people and families with choroideremia in Canada and around the world.” Mr. Hillier is personally affected by choroideremia.

The first ever clinical trial of a gene therapy for choroideremia began in the UK in November 2011, with the first surgery to inject the treatment being done by Dr. Robert MacLaren of Oxford University. Dr. MacLaren and his colleague, Professor Miguel Seabra of Imperial College London, are both collaborators on the Canadian project. Canadian retinal surgeon and research team member, Dr. Matt Tennant, will travel to the UK to study the necessary surgical techniques with Dr. MacLaren, and to bring this practical experience back to the Canadian team in Edmonton.

Team investigators plan to begin recruiting participants as soon as the regulatory requirements for this trial can be put in place, likely by the end of this year. In addition to the families with choroideremia already involved with Dr. MacDonald’s research program at the University of Alberta, the project team will use the Foundation Fighting Blindness Patient Registry to contact participants and will reach out to potential participants through the Choroideremia Research Foundation
Canada.

Download the full press release: Emerging Team Grant Press Release.

Read more about this exciting trial here.

Take a minute to watch this short clip about Dr. MacDonald’s clinical trial.

Listen to Dr. MacDonald and CRFC Board Member, Mark Huyser-Wierenga, during an interview on CBC Radio One’s Radio Active here.

First International Choroideremia Research Symposium a Huge Success!

The first International Choroideremia Research Symposium was held in Sommieres, France from September 21 – 23, 2011. Researchers from around the world attended the symposium and were able to discuss their work, progress, and how they could work together towards their common goal of finding a treatment and subsequent cure for CHM.

Joining the researchers from Canada, the U.S., the U.K., Germany, the Netherlands, Australia, Portugal and Spain were members of the Choroideremia Research Foundation and France Choroideremie. CRFC President, Bob Hillier, and his wife and CRFC Secretary, Martha Hillier, also attended the symposium. Attendees from all three foundations were able to meet and discuss their individual goals and funding plans.

It was determined by the researchers attending the symposium that a second CHM Symposium will be held in 2013, possibly in Canada!

CRF Supporter and CHMer EJ Scott is interviewed
on CNN Headline News!

American comedian and choroideremia sufferer EJ Scott aims to raise $144,000 for the CRFC’s U.S. sister organization the Choroideremia Research Foundation by running 12 marathons in 12 months in 2012 while blindfolded! He is not only raising much-needed funds for important choroideremia research, he is also raising awareness about this blinding disease. His efforts have caught the attention of CNN Headline News personality, Dr. Drew. Check out EJ’s second appearance on the show:

Way to go, EJ! Your determination is inspiring. To learn more about EJ and his 12 Marathons campaign you can check out his blog or follow him on Facebook. Canadians wishing to support EJ in his fundraising efforts can do so here.