Choroideremia
Choroideremia
is a rare inherited eye disorder that causes progressive sight loss.
This genetic condition is passed through families by the
X-linked pattern of inheritance and so the condition almost exclusively affects
males. Those with choroideremia tend to develop night blindness in their teens,
which progresses to tunnel vision and blindness 20 to 30 years after the onset.
Fight for Sight is funding research being carried out by Professor Miguel
Seabra at Imperial College London investigating the use of gene therapy in
treating choroideremia.
This work is funded through the Tommy Salisbury
Choroideremia Fund – a fund set up by the family and friends of Tommy Salisbury
who is affected by the condition. All your donations will be made to this Fund.
The Clinical Trial
The clinical trial that has just begun at the Oxford Eye
Hospital, represents the world's first ever attempt to treat choroideremia and
the first time that gene therapy has been directed towards the light sensitive
photoreceptor cells of the human retina. Patients in the trial will have a
virus injected into their eye which has been genetically engineered to carry a
missing gene. The virus has been modified to enable it to infect the light
sensitive cells known as photoreceptors that line the back of the eye. Mr
Jonathan Wyatt a 62 year old man from Bristol was, this week, the first patient
to undergo this pioneering surgery. There are 12 patients enrolled in the trial
who will undergo
gene surgery treatment to one eye. It is estimated to take a further 24 months to know whether or not the degeneration has been stopped completely by the gene therapy treatment.
This is the first time these cells have been targeted using gene therapy and it paves the way for the treatment of other genetic causes of blindness such as retinitis pigmentosa.
The trial is being led by Professor Robert MacLaren, Professor of Ophthalmology at the University of Oxford and builds on gene therapy research performed in collaboration with Professor Miguel Seabra at Imperial College London. Professor MacLaren said, "This disease has been recognised around the world as an incurable form of blindness for over a hundred years. I cannot describe the excitement in thinking that we have designed a genetic treatment that could potentially stop it in its
tracks with one single injection."
Professor Seabra, who played a key role at Imperial College London in identifying the gene causing choroideremia and in eliciting the mechanism of cell death in the retina comments: "The ability to offer a gene replacement treatment for these patients was the final objective of 20 years of intense research in my laboratory. This is a moment of fulfilment for us and a dream come true for all choroideremia patients."
gene surgery treatment to one eye. It is estimated to take a further 24 months to know whether or not the degeneration has been stopped completely by the gene therapy treatment.
This is the first time these cells have been targeted using gene therapy and it paves the way for the treatment of other genetic causes of blindness such as retinitis pigmentosa.
The trial is being led by Professor Robert MacLaren, Professor of Ophthalmology at the University of Oxford and builds on gene therapy research performed in collaboration with Professor Miguel Seabra at Imperial College London. Professor MacLaren said, "This disease has been recognised around the world as an incurable form of blindness for over a hundred years. I cannot describe the excitement in thinking that we have designed a genetic treatment that could potentially stop it in its
tracks with one single injection."
Professor Seabra, who played a key role at Imperial College London in identifying the gene causing choroideremia and in eliciting the mechanism of cell death in the retina comments: "The ability to offer a gene replacement treatment for these patients was the final objective of 20 years of intense research in my laboratory. This is a moment of fulfilment for us and a dream come true for all choroideremia patients."
Fight for Sight involvement
Fight for Sight through the Tommy Salisbury Choroideremia
Fund have been supporting Professor Seabra's research into choroideremia at
Imperial College London over the past five years. This support has been vital
in taking the research to this stage. Professor Robert MacLaren said
"This
clinical trial marks a major step in developing gene therapy treatments for photoreceptor diseases. It would not have been possible however without the scientific funding provided by Fight for Sight through the Tommy Salisbury Choroideremia Fund over the last five years. In my opinion, this is the single most significant factor that has enabled our British team of researchers to lead the world in starting the first clinical trial for this disease. We should not under-estimate the power that individuals can have in influencing the course of research through their fundraising activities."
clinical trial marks a major step in developing gene therapy treatments for photoreceptor diseases. It would not have been possible however without the scientific funding provided by Fight for Sight through the Tommy Salisbury Choroideremia Fund over the last five years. In my opinion, this is the single most significant factor that has enabled our British team of researchers to lead the world in starting the first clinical trial for this disease. We should not under-estimate the power that individuals can have in influencing the course of research through their fundraising activities."