Gene therapy for hemophilia is starting to come of age and promises to transform the way patients with this rare blood disease are treated. After one dose of gene therapy, hemophilia b patients. A free powerpoint ppt presentation displayed as a flash slide show on id. Feline immunodeficiency virus fivbased lv have also been employed for hemophilia a gene therapy. This collection of programs provides important information on the science behind gene therapy for hemophilia, the latest safety and efficacy data from clinical trials, and the potential role for gene therapy in addressing the challenges of current treatment methods. The work in my laboratory dedicated to the development of gene therapy for hemophilia, based on gene transfer with recombinant adenoassociated virus raav, began after dr.
Shire cans baxalta hemophilia b gene therapy, thinning field. Gene therapy used to treat hemophilia national institutes. Approximately 30 percent of patients with severe hemophilia a will develop an inhibitor that neutralizes the infused factor viii fviii activity. Hemophilia is a genetic disease that prevents blood from clotting properly leading to prolonged internal and external bleeding. Joint bleeding and other comorbidities are a significant source of debilitation for this population. Gene therapy is costeffective in severe hemophilia a compared with standard factor viii prophylaxis. Animal models of hemophilia gene transfer with viralderived vectors have been the most reliable at providing sustained therapeutic levels of the clotting factors.
Spark is also using gene therapy to treat a cause of inherited blindness, lebers congenital amaurosis, for which no treatment exists. The treatment goal of gene therapy for hemophilia is to provide sustained. Aavbased gene therapy is one of a number of novel approaches for treatment of hemophilia with other gene therapy in vivo and ex vivo and nonreplacement therapies progressing through clinical trials. Results from this study represent a promising step toward making gene therapy a viable treatment option for hemophilia b. No gene therapy approaches have evidence of longterm efficacy in patients.
Such therapy is also burdensome and does not completely prevent bleeding. The idea of gene therapy for hemophilia has been around since the 1980s, and more than 15 years ago, the first hemophiliacs volunteered for tests. This collection of programs provides important information on the science behind gene therapy for hemophilia, the latest safety and efficacy data from clinical trials, and the potential. New development from bench to bed side current gene therapy. Nov 10, 2017 hemophilia is a congenital bleeding disorder that affects nearly half a million individuals worldwide.
Hemophilia a is a genetic disease caused by the deficiency of clotting factor viii. Hemophilia gene therapy is effective and safe blood. Gene therapy hemophilia a ph iii increase in enrollment to participants anticipated by 1q 2019 pfizer fidanacogene elaparvovec gene therapy hemophilia b ph iii initiated trial july 2018 uniqure amt061 gene therapy hemophilia b confirmation study topline data from dose confirmation study expected q4 2018. Hemophilia b is rarely complicated by the development of inhibitory antibodies. The title of this talk is gene therapy for hemophilia. Gene therapy for hemophilia a has been more difficult since the. Dec 06, 2017 the hemophilia study is small but very promising, and it gives me the sense that gene therapy for hemophilia b is going to be at our disposal in no time, maybe a few years from now, said. Groundbreaking gene therapy trial set to cure hemophilia. Factor viii and factor ix gene therapy have become a tangible. Treatment of hemophilia a and b national hemophilia foundation.
Oct 25, 2017 i believe amt061 has the potential to be an important gene therapy for patients suffering with hemophilia b, dr. Gene therapies for hemophilia hit the mark in clinical. Mar 31, 2017 the work in my laboratory dedicated to the development of gene therapy for hemophilia, based on gene transfer with recombinant adenoassociated virus raav, began after dr. Morgan healthcare conference, january 9, 2017, in san francisco, ca. Human gene therapy for hemophilia draft guidance for industry this guidance document is for comment purposes only. Future therapies while gene therapy has long been a topic of discussion within the hemophilia community, the idea of gene therapy as a treatment option is becoming a reality. Obstacles and future of gene therapy for hemophilia. Read about all your treatment options, from replacement therapies. The report covers the market landscape and its growth prospects during the forecast period. Mindblowing results from gene therapy trial point to a. The company is now looking to combine hepastem with genetic. Spark gives update on hemophilia gene therapies, including. Spark therapeutics, pfizer amend experimental hemophilia gene.
Jul 11, 2017 on tuesday, biomarin announced plans to start a phase 3 study in the fourth quarter of its gene therapy bmn 270 for hemophilia a. Dec 09, 2017 coming just days after reports of a gene therapy that pushed the bleeding disorder hemophilia b into remission, new research suggests the same could be true for adults with the a form of the. Takeda demonstrates its longstanding commitment to. Valoctocogene roxaparvovec bmn 270 for hemophilia a. Hemophilia market size, share, growth industry report, 2027. Videos, documents, and other educational gene therapy resources.
Apr 21, 2020 hemophilia is a bleeding disorder that prevents effective clotting, so getting on a treatment plan early is especially important. Hemophilia has long been one of the disorders thought most likely to be correctible with gene therapy, but previous approaches to deliver the gene have been disappointing, says nhlbi acting director dr. Gene therapy stops bleeding episodes in hemophilia trial. Dunn md, in transfusion medicine and hemostasis second edition, 20. Enhanced factor viii heavy chain for gene therapy of. Uk merger control 19 february 2020 any treatment for hemophilia a. The procedure was well tolerated and no immune responses were detected. Gene therapy can be broadly defined as the transfer of genetic material to cure a disease or at least to improve the clinical status of a patient. The arguments in favor of gene therapy for hemophilia have. The global hemophilia market size was valued at usd 11.
Repligen signals gene therapy strength with 2019 earnings report the motley fool. Dec 09, 2017 todays excitement is driven by a study of a gene therapy for the most common form of hemophilia, developed by biomarin of notaro, calif. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. The report also includes a discussion of the key companies operating in this market. While factor concentrates have improved outcomes, individuals still face a lifetime of injections, pain, progressive joint damage, the potential for inhibitor development and impaired quality of life. Hemophilia gene therapy a pipeline analysis report gii. But the biotech company also has earlierstage plans in hemophilia a, fabry disease, huntingtons disease and an array of other inherited. This study will seek to determine the safety and kinetics of a single iv infusion of spk9001 a novel aav vector carrying a high specific activity factor ix.
A novel landscape for therapeutic approach current gene therapy. Two recent studies describe clinical successes for singledose gene therapy in. My name is katherine high, and im a professor of pediatrics at the university of pennsylvania school of medicine and an investigator of the howard hughes medical institute. Shire cans baxalta hemophilia b gene therapy, thinning. Another obstacle to aavmediated gene transfer for hemophilia a gene therapy is the size of the fviii coding sequence, which at 7. Effect of aavmediated hepatic gene therapy in hemophilia b dogs. Availability of these highcost novel therapeutics will require evolution of both clinical and financial healthcare services to allow equitable. In this issue of blood, miesbach et al show that adenoassociated virus5 aav5 liverdirected gene therapy in severe and moderate hemophilia b was clinically effective, with patients achieving stable factor ix fix expression. Uniqure is focused on using gene therapy in hemophilia b. The major hurdle for developing aavfviii for gene therapy lies in the size of the fviii gene.
Hemophilia b gene therapy in mice using a novel chimeric aav capsid combined with a potency enhanced fix variant. The author holds pending and issued patents in the area of gene therapy for hemophilia. Researchers have scored their first clear success in using gene therapy to treat hemophilia, an. Although clotting factor expression has been detected in hemophilic patients treated by gene therapy, the challenge now lies in obtaining prolonged therapeutic fviii or fix levels in these patients. The hemophilia study is small but very promising, and it gives me the sense that gene therapy for hemophilia b is going to be at our disposal in no time, maybe a few years from now, said. Hemophilia b gene therapy candidate dtx101 pulled from. Pfe today announced an exclusive, global collaboration and license agreement for the development and commercialization of gene therapy programs for hemophilia a, including sb525, one of sangamos four lead product candidates, which sangamo expects will enter the clinic this quarter. Biomarins hemophilia a gene therapy trial demonstrates. It is the most common type of hemophilia and occurs much more frequently in males. Dec 28, 2017 gene therapy using adenoassociated viral aav vectors has been successfully used to treat patients with hemophilia b.
Quick take gene therapy for factor ix deficiency 01. Following its recent acquisition of shire, takeda is a leader in hemophilia with. Gene therapy helps patients with hemophilia national. Technavios hemophilia gene therapy a pipeline analysis report, has been prepared based on an indepth market analysis with inputs from industry experts.
The ultimate goal of gene therapy is the replacement of a defective gene sequence with a corrected version to eliminate disease for the lifetime of the patient. Ppt gene therapy for hemophilia powerpoint presentation. Excitement builds around gene therapy cures for hemophilia. Recent data of a gene therapy study showed preliminary encouraging results with the approach of using an aav vector carrying the factor ix gene. Gene therapy corrects factor viii levels in hemophilia a. Biomarin pharmaceutical shares plunged tuesday after a study showed its hemophilia a gene therapy loses some effectiveness in longterm patients but analysts remain bullish on the treatments. Submit one set of either electronic or written comments on. Results from recent trials of this revolutionary approach have restored patients anticoagulant factor activity levels to normal or nearnormal levels and reduced patients annualized bleeding rates. While gene therapy has long been a topic of discussion within the hemophilia community, the idea of gene therapy as a treatment option is becoming a reality.
View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Gene therapy for hemophilia a has been more difficult since the coding region of factor viii is too large for aav vectors. Our product candidate amt180 is a novel hemophilia a gene therapy that has the potential to treat all hemophilia a patients, including those with past and current inhibitors. The results from the first human trials for a gene therapy to treat patients with haemophilia a have just been published, and they are truly remarkable. Gene therapy using adenoassociated viral aav vectors has been successfully used to treat patients with hemophilia b.
Coming just days after reports of a gene therapy that pushed the bleeding disorder hemophilia b into remission, new research suggests the same. Nathwani arrived from the university college london to work. Experts say hemophilia treatment is at a precipice of a therapeutic. Additional approaches, including blockage of inhibitors of clotting, are also under investigation. Prepared by the treatment guidelines working group, on behalf of the world. Through this type of treatment, patients with severe hemophilia could attain moderate hemophilia clotting levels, thus leading to an increased reduction in bleeding. Current therapies are effective but must be given lifelong at regular intervals, are costly, and are available to only about 25% of the hemophilia population living in resourcerich countries.
Hemophilia b gene therapy with a highspecificactivity. While improved recombinant clotting factor products remain an important area of research, the quest for effective and safe gene therapy treatment for hemophilia continues concurrently. It is currently developing a gene therapy treatment based on spk8011 and spk8016, which are still in the development phase. This challenging task is not yet accomplished, however significant progress is evident. Gene therapy has the potential to revolutionise treatment for patients with haemophilia and is close to entering clinical practice. Current news results for gene therapy are sorted by date. Researchers are aiming to repair the single gene mutation responsible for hemophilia by delivering a correct copy of the factorencoding gene. All hemophilia a and hemophilia b therapies, whether it is factor. Gene therapy in hemophilia advances with big drops in patient. Takeda demonstrates its longstanding commitment to advancing. Two recent studies describe clinical successes for singledose gene therapy in trials for two forms of hemophilia. Another gene therapy breakthrough against hemophilia webmd. The move will see shire focus its attention on a preclinical gene.
These interim results will be presented at the 35th annual j. Valoctocogene roxaparvovec is gene therapy designed for the treatment of hemophilia a. Dec 14, 2017 a cure for haemophilia is one step closer, following results published in the new england journal of medcine of a groundbreaking gene therapy trial led by the nhs in london. Nathwani arrived from the university college london to work as a postdoctoral fellow in my lab july 1997. Hemophilia b is an xlinked bleeding disorder that results from a deficiency or dysfunction of coagulation factor ix. The world federation of hemophilia wfh does not endorse particular treatment products or manu facturers. A gene therapy study for hemophilia b full text view. Steven pipe, md, professor of pediatrics and pathology and pediatric medical director of the hemophilia and coagulation disorders program at the university of michigan, said in a press release. After many years, gene therapy in patients with hemophilia has started to show promising results in alleviating symptoms and improving the disease phenotype. Hemophilia b gene therapy amt061 to advance to clinical.
These antibodies occur in only approximately 3% of patients with severe hemophilia b and it is thought that some of the difference in rates of antibody formation between hemophilia a and b result from more patients with. Nobody has developed an inhibitor, which is clearly an important question in hemophilia a gene therapy, pasi noted, and nobody has. The biotech company is moving forward with the high dose of bmn. Hemophilia gene therapies have the potential to provide prolonged, highlevel expression of factor, and limit the need for frequent factor infusion. Spark therapeutics is also developing a new potential gene therapy, spk8016, specifically for the treatment of patients with hemophilia a, or factor viii deficiency, who have developed inhibitors on currently available therapies. Though the experience of a gene therapy for hb may provide a roadmap for how gene therapy for hemophilia a ha may navigate similar obstacles, there are important biological differences between fix and factor viii fviii that create their own set of unique barriers for gene therapy for ha. In contrast to roches hemlibra, sparks gene therapy treatment would involve a onetime administration which, if successful, would allow patients to. The author is an employee of and holds equity interest in spark therapeutics, which has an interest in developing gene therapy for hemophilia.
After one dose of gene therapy, hemophilia b patients maintain nearnormal levels of clotting factor. Our goal in hemophilia b is to develop the safest and most effective gene therapy with the broadest application to patients. There are existing treatments for hemophilia that require lifelong administration, while gene therapy may offer a onetime treatment to address the cause of the disease. Hemophilia b gene therapy in mice using a novel chimeric. Advances and challenges for hemophilia gene therapy. Accurately detecting the clotting endpoint using a manual. We believe that etranacogene dezaparvovec amt061 may be the first gene therapy to provide durable, curative benefits to nearly all patients with hemophilia b, with optimized clinical and safety benefits. Why analysts remain bullish on this hemophilia genetherapy play. Apr 01, 2015 hemophilia was a very interesting model for gene therapy as only a small increase of factor level can dramatically decrease the number of bleedings and prevent athropathy. Gene therapy for hemophilia is here and its working. Treatment for patients with hemophilia and other bleeding disorders has evolved over the past several decades. Human gene therapy for hemophila draft guidance for. Current rnabased therapeutics in clinical trials current gene therapy.
1153 1434 218 71 1511 1209 1246 1372 379 547 523 382 942 135 1440 437 1407 721 771 127 842 366 110 1496 303 77 1286 1388 1348 1053 1498 59 1322 1169