Is it a genetic condition? RB: We don’t know yet. More research needed! DA: So far it seems that for most patients the genetics are complex. We have identified a first common variant (a gene which contributes to risk but is also common in the population as a whole) and some rare variants (very uncommon genes which seem to be important in small numbers of SCAD-survivors) and are working on these at the moment. were you instantly diagnosed with SCAD? RB: Pretty much. SCAD was suspected during the emergency coronary angiogram I had about 18 hours after my first heart attack symptoms at home. Do you have to take medication for SCAD? RB: Research so far is showing that most SCAD patients will stabilise under a conservative treatment strategy (medications only) rather than the use of stents (which are the usual treatment for atherosclerotic heart attacks). The body will naturally try to heal the SCAD itself. Some SCAD cases are severe and require bypass surgery. I take three medications as a result of my SCAD and expect to be on them for life (unless research determines otherwise…). Not all SCAD patients stay on medication for life it depends on the individual circumstances as to what – may be beneficial. I have some permanent heart muscle damage so I take medications to lower my heart rate and keep my blood pressure low with the aim of reducing the overall workload of my heart. I also take aspirin as a blood thinner. Presentation Title: Gene therapy for inherited metabolic disorders Responses by Professor Paul Gissen Why is gene therapy so expensive? It is expensive to develop a new therapy, do clinical trials and the company needs to recoup their investment. There are only few patients with rare diseases therefore per patient the treatment is expensive but compared with the common disease drugs on the large scale it is not more expensive. It may be cheaper than traditional therapies in the long run as the therapy may not need to be administered again. How common is liver disease? Common liver diseases are very common: one of the commonest form of disease, similar to heart disease and cancer. Rare liver diseases are rare individually. Some are one in 10,000, others one in a million population. How long does trans genes take to become effective? be as quick as 4-6 hours after administration. Will gene therapy reduce liver transplants? Yes, it is possible for some of the conditions.
Is it a genetic condition? RB: We don’t know yet. More research needed! DA: So far it seems that for most patients the genetics are complex. We have identified a first common variant (a gene which contributes to risk but is also common in the population as a whole) and some rare variants (very uncommon genes which seem to be important in small numbers of SCAD-survivors) and are working on these at the moment. were you instantly diagnosed with SCAD? RB: Pretty much. SCAD was suspected during the emergency coronary angiogram I had about 18 hours after my first heart attack symptoms at home. Do you have to take medication for SCAD? RB: Research so far is showing that most SCAD patients will stabilise under a conservative treatment strategy (medications only) rather than the use of stents (which are the usual treatment for atherosclerotic heart attacks). The body will naturally try to heal the SCAD itself. Some SCAD cases are severe and require bypass surgery. I take three medications as a result of my SCAD and expect to be on them for life (unless research determines otherwise…). Not all SCAD patients stay on medication for life – it depends on the individual circumstances as to what may be beneficial. I have some permanent heart muscle damage so I take medications to lower my heart rate and keep my blood pressure low with the aim of reducing the overall workload of my heart. I also take aspirin as a blood thinner. Presentation Title: Gene therapy for inherited metabolic disorders Responses by Professor Paul Gissen Why is gene therapy so expensive? It is expensive to develop a new therapy, do clinical trials and the company needs to recoup their investment. There are only few patients with rare diseases therefore per patient the treatment is expensive but compared with the common disease drugs on the large scale it is not more expensive. It may be cheaper than traditional therapies in the long run as the therapy may not need to be administered again. How common is liver disease? Common liver diseases are very common: one of the commonest form of disease, similar to heart disease and cancer. Rare liver diseases are rare individually. Some are one in 10,000, others one in a million population. How long does trans genes take to become effective? be as quick as 4-6 hours after administration. Will gene therapy reduce liver transplants? Yes, it is possible for some of the conditions.
NIHR-Think-Rare-Diseases-Patient-Day-Complied-Responses-to-questions-v3-.docx