Groundbreaking gene therapy trial set to cure hemophilia. Through this type of treatment, patients with severe hemophilia could attain moderate hemophilia clotting levels, thus leading to an increased reduction in bleeding. This is where the body normally produces the socalled factor ix protein. Such therapy would reduce the need for longterm iv infusions of clotting factors. 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. However, in about 3 out of 10 cases, a son is born to a family that has no history of hemophilia. The genetic era in hemophilia began in the early 1980s with the isolation and characterization of the genes for human factor viii gitschier et al.
Nov 10, 2017 hemophilia is a congenital bleeding disorder that affects nearly half a million individuals worldwide. Hemophilia affects one in 5000 male births, with hemophilia a approximately five to six times more common than hemophilia b. One patient in this group has already received spk9001 produced. Longterm safety and efficacy of factor ix gene therapy in hemophilia b.
Before receiving the experimental gene therapy treatment, clinical trial participant mark lee, 38, had severe haemophilia and clotting factor infusions up to three times a week since birth. Read about all your treatment options, from replacement therapies. This team devises a coordinated care plan for the patient and relies on his private physician for followup. Guidelines for the management of hemophilia 2nd edition prepared by the treatment guidelines working group, on behalf of the world federation of hemophilia wfh dr. 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. The breakthrough in modern era gene therapy for hemophilia was the publication of the nathwani et al study in 2011. May 18, 2016 recently, gene therapy has emerged as a potential therapeutic option for hemophilia b, where replacement of the clotting factor by 12% is shown to enhance quality of life and reconstitution of the clotting factor by 520% improves the blood clotting problems. The initiation of my own independent research career coincided with these landmark discoveries, and my research group, and many others, exploited these advances to. Gene therapy helps patients with hemophilia national. The resources listed below may help you learn more about hemophilia, living with hemophilia, the complexity of genetics, and gene therapy research. Gene therapy for hemophilia with adenoassociated virus vectors has. It could be that the boys mother developed the gene with the hemophilia mutation when she was conceived. Biomarins hemophilia a gene therapy trial demonstrates.
In almost all cases, the gene responsible for hemophilia is passed from a parent to the child at the time of conception. Transferring a form of the gene for factor viii using a viral vector corrected plasma levels of the factor and stopped bleeding episodes for patients with severe hemophilia a, a study shows. Available animal models include factor viii or factor ix knockout mice as well as dogs with spontaneous hemophilia a or b. Large animals particularly dogs more closely replicate the requirements for correction of human hemophilia than do mice. 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. Unexpected hypotension or unexpected transfer to icu due to bleeding or. 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 move will see shire focus its attention on a preclinical gene.
Royal free london nhs foundation trust 5,680 views 50. 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. Our gene therapy product candidate etranacogene dezaparvovec amt061 consists of an aav5 viral vector carrying a gene cassette with the padua variant of factor ix fixpadua uniqure is now conducting the phase iii hopeb. If transferred successfully, the functional gene is intended to provide the correct instructions for the cell to make factor viii or factor ix clotting protein. The biotech company is moving forward with the high dose of bmn. Dec 09, 2017 hemophilia b, caused by a deficiency of clotting factor ix, afflicts about 4,000 americans and 80,000 men globally. Hemophilia is a bleeding disorder inherited as a sexlinked autosomal. Hemophilia gene therapy is effective and safe blood. The limited success from the initial human experience has provided focus on a need for improvements in or alternatives to the viral. Depending on which clotting factor the patient is deficient in, the disease is classified as hemophilia a deficiency in factor viii, f.
In the study, each of the 10 patients received a single infusion of an adenoassociated viral vector with a unique bioengineered capsid, a factor ix padua transgene, and a liverspecific promoter. Transferring a form of the gene for factor viii using a viral vector corrected plasma levels of the factor and stopped bleeding episodes for. The arguments in favor of gene therapy for hemophilia have. 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. And clinically the disease is divided into those who are severely affected who have less than 1% normal circulating levels of factor viii or factor ix. The world federation of hemophilias sixth global forum the world. The study results were reported in human gene therapy, a peer. Ill begin by providing some background on blood coagulation and hemophilia. Hemophilia b trial of possible gene therapy enrolling more. Hemophilia is a rare genetic disorder that doesnt allow your blood to clot properly, making it hard for you to stop bleeding. Haemophilia centre can advise on haemophilia issues during these normal childhood stages. 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. These interim results will be presented at the 35th annual j.
Dec, 2017 she hails the trial and a second study into gene therapy for people with a resistant form of the rarer haemophilia b as leading the way to a cure for haemophilia. Dec, 2011 medical xpress an experimental gene therapy technique boosted the production of a vital blood clotting factor in six people with hemophilia b, according to new research supported by the. Leap forward towards gene therapy cure for haemophilia a. Gene therapy in hemophilia advances with big drops in. Medical xpress an experimental gene therapy technique boosted the production of a vital blood clotting factor in six people with hemophilia b, according to new research supported by the. Joint bleeding and other comorbidities are a significant source of debilitation for this population.
Results from this study represent a promising step toward making gene therapy a viable treatment option for hemophilia b. Another gene therapy breakthrough against hemophilia webmd. Since the gene therapy injection his factor levels are in the normal range and he has not had any bleeds. Hemophilia of georgia is very committed to improving treatment for all bleeding disorders as well as research on a cure. Hemophilia is a bleeding disorder that prevents effective clotting, so getting on a treatment plan early is especially important. Hemophilia is an xlinked inherited disorder resulting in a deficiency in the clotting functionality of blood. Improving vectors for delivering gene therapy may help to. Dec 06, 2017 for the study, george and her colleagues delivered one dose of the gene therapy each into 10 hemophilia b patients livers. Chuah, desire collen, thierry vandendriessche retro6iral gene transfer section, center for transgene technology and gene therapy, flanders interuni6ersity institute for biotechnology, uni6ersity of leu6en, 49 herestraat, b3000 leu6en, belgium accepted 20 june 1998. Thompson summary clinical trials of gene transfer in the hemophilias evolved from a decade of studies in cultured cells and then in animal models.
Approximately 30 percent of patients with severe hemophilia a will develop an inhibitor that neutralizes the infused factor viii fviii activity. The initiation of my own independent research career coincided with these landmark discoveries, and my research group, and many others, exploited. Coming just days after reports of a gene therapy that pushed the bleeding disorder hemophilia b into remission, new research suggests the. 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. Gene therapy is currently being investigated as a treatment options for hemophiliacs. An introduction to aav vector gene transfer duration. Mindblowing results from gene therapy trial point to a. Brewer department of oral surgery, the royal infirmary. 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. H emophilia attracted considerable attention as an early target for efforts in gene therapy for genetic disease for a number of reasons, including the wide therapeutic window, the latitude in choice of target tissue, the availability of small bi et al. The onetime treatments seek to fight the disease by adding correct. Hemophilia is a congenital bleeding disorder that affects nearly half a million individuals worldwide. Wfh sixth global forum on the safety and supply of treatment products for bleeding disorders i.
Willebrand disease rather that hemophilia a and b 6. Dec 07, 2017 before receiving the experimental gene therapy treatment, clinical trial participant mark lee, 38, had severe haemophilia and clotting factor infusions up to three times a week since birth. Informing the nurse or doctor giving the immunisation that the baby or toddler has haemophilia is important. Hemophilia b gene therapy with a highspecificactivity. Resources for hemophilia, genetics, and gene therapy research. A recent study was conducted with the help of ten hemophilia b patients who had a factor ix activity level of 2%. Prepared by the treatment guidelines working group, on behalf of the world. On tuesday, biomarin announced plans to start a phase 3 study in the fourth quarter of its gene therapy bmn 270 for hemophilia a. For the study, george and her colleagues delivered one dose of the gene therapy each into 10 hemophilia b patients livers. Improving vectors for delivering the human factor viii gene therapy may help to treat hemophilia. Hemophilia therapy in the united states has progressed from replacement therapies for. Earliest gestational age for fetal sexing in cellfree.
This manual contributes to hemophilia care by enhancing the emergency. Studying vectorfacilitated gene therapy in hemophilia b. She hails the trial and a second study into gene therapy for people with a resistant form of the rarer haemophilia b as leading the way to a cure for haemophilia. Gene therapy corrects factor viii levels in hemophilia a. Communication between the patients private physician and the hemophilia. It is suggested that the patients hemophilia treatment center or hematologist be consulted for. The mother would be the first person in the family to carry hemophilia. Hemophilia physical therapy for the child with bleeding disorder is aimed at maintaining rom and strength in all joints and at preventing or diminishing disability. An ongoing phase 12 clinical trial evaluating a gene therapy, spk9001, in people with hemophilia b is expanding its enrollment by up to five more patients, who will be given a new version of the therapy, its developer announced. Hemophilia treatment the amount of factor concentrate replacement therapy required to achieve hemostasis varies with each patients weight, factor deficiency, severity, and bleeding circumstance. Gene therapy for the hemophilias david lillicrap, arthur r.
In 2011, a study found adenovirusassociated virus vector expressing human factor ix gene increased fix levels in all participants with hemophilia b. It is caused by mutations in blood clothing factor viii fviii, hemophilia a or factor ix fix, hemophilia b. Although the levels of fix achieved with the highest vector dose of 2. Shire cans baxalta hemophilia b gene therapy, thinning. Hemophilia is the xlinked bleeding disorder that is caused by the absence of functional factor viii, which is called hemophilia a, or factor ix, which is called hemophilia b. Here youll learn more about symptoms, diagnosis and treatment of hemophilia a, or factor viii fviii deficiency. Dec 06, 2017 the hemophilia gene therapy is one of several being tested for conditions including sickle cell anemia and huntingtons disease. Morgan healthcare conference, january 9, 2017, in san francisco, ca. Alok srivastava chair department of hematology, christian medical college, vellore, tamil nadu, india dr. 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. Investigational gene therapy for hemophilia is designed to add a functional copy of the factor viii or factor ix gene to the cells command center nucleus. These diseases are clinically indistinguishable and were not separated in the laboratory until the 1950s.
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. Nathwani arrived from the university college london to work as a postdoctoral fellow in my lab july 1997. Hemophilia hemophilia is a bleeding disorder inherited as a sexlinked autosomal recessive trait males are affected, females are carriers. Hemophilia a is a single gene disorder with a clear causeandeffect relationship and, with a wide therapeutic window, is an ideal candidate for gene therapy, he said. Most often this is due to a dna flaw which causes substances called clotting factors to operate abnormally. The normal factor activity level in persons without hemophilia ranges from approximately 50% to 150%. 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.
Children with haemophilia can have all the normal immunisations at the usual age. The groups, agencies, and resources included in this list are independent organizations and are not affiliated with spark therapeutics. Nov 15, 2017 an ongoing phase 12 clinical trial evaluating a gene therapy, spk9001, in people with hemophilia b is expanding its enrollment by up to five more patients, who will be given a new version of the therapy, its developer announced. Hemophilia wfh does not endorse particular treatment products or manu. Gene therapy breakthrough for haemophilia haemophilia. Pipeline gene therapy 22022018 canadian hemophilia society. Hemophilia is an xlinked bleeding disorder that occurs approximately in 1 of 5,000 male births worldwide. 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.
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