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Thread: Hemophilia B Gene Therapy: 12 Men, 4 Years and Counting, No Meds

  1. #1

    Hemophilia B Gene Therapy: 12 Men, 4 Years and Counting, No Meds

    My son is 5 years old, he has "severe" hemophilia B; my wife has "mild".

    -presence




    Doctors working on gene therapy to help patients with hemophilia

    Updated: Fri 5:50 PM, Nov 21, 2014





    SOUTH BEND, Ind.---
    Little Hunter Miller's motor is always running.



    Like most toddlers he's sometimes one step away from trouble, but for Hunter being rough and tumble can have serious side effects. Hunter has severe hemophilia.

    Twenty-thousand Americans live with hemophilia; it's a condition preventing the blood from clotting easily after a cut or injury.

    Patients are also more susceptible to internal bleeding, which can damage joints, organs and tissue.

    Three days after Hunter was born a routine circumcision caused a major scare.

    "You know a baby gets up in the morning and their diapers are just full,” said Tina Miller, Hunter’s grandmother. “Well his was full, but it was full of blood."

    Doctors diagnosed Hunter with hemophilia a, which means his blood is missing a protein known as “clotting factor eight.”

    When he gets hurt doctors need to inject the clotting factor to stop the bleeding.

    He's had eight emergency room visits in 19 months.

    "Him falling, bumping his head too hard; just little cuts,” said Heather Frederick, Hunter’s mother. “He cut the roof of his mouth with a tortilla chip and that was a hospital trip."

    Dr. Katherine Ponder, from Washington University School of Medicine, studies gene therapy treatment for hemophilia and other blood disorders.

    Her lab treated hemophilia A in animals, but she says the therapy isn't quite ready for humans yet.

    "I think that the big question is going to be the safety," said Dr. Ponder.

    Gene therapy; however, has proven effective for some patients with Hemophilia B.

    Researchers at St. Jude's Children's Hospital and University College of London have added the missing protein, “factor nine,” to a specially-engineered virus, which travels to the patient's liver and transfers the gene.

    "This modifies the disease from a situation where they might bleed once a week, to a situation where they hardly ever bleed," said Dr. Ponder.

    Until there's a cure Heather walks a fine line between hovering, and helping Hunter develop like any two-year-old.

    "You don't want to put him in a bubble," said Heather.

    Hunter's doctors want to put a port in his chest, which would allow him to receive the "clotting factor" at home.

    Dr. Ponder says the regular treatments would likely keep hemophilia under control, but, doing so, isn't cheap.


    The "clotting factor" treatments can run more than

    $300,000 a year.

    http://www.wndu.com/home/headlines/D...283511651.html


    Gene therapy provides safe, long-term relief for patients with severe hemophilia B

    Liz McMillan, Peter Silva, Xenia von Wedel, Glenn Rossman, Adine Deford

    Gene therapy pioneered by St. Jude Children's Research Hospital, University College London and the Royal Free Hospital provides men with hemophilia B reliable relief from the bleeding disorder

    November 19, 2014 08:20 PM EST


    MEMPHIS, Tenn., Nov. 19, 2014 /PRNewswire-USNewswire/ -- Gene therapy developed at St. Jude Children's Research Hospital, University College London (UCL) and the Royal Free Hospital has transformed life for men with a severe form of hemophilia B by providing a safe, reliable source of the blood clotting protein Factor IX that has allowed some to adopt a more active lifestyle, researchers reported. The results appear in the November 20 edition of The New England Journal of Medicine.

    In this study, participants received one of three doses of gene therapy that used a modified adeno-associated virus (AAV) 8 as the vector to deliver the genetic material for making Factor IX. The vector was administered as a single infusion into a peripheral vein in the arm of each participant.

    Factor IX levels rose in all 10 men with severe hemophilia B following gene therapy and have remained stable for more than four years. Overall, episodes of spontaneous bleeding declined 90 percent. Use of Factor IX replacement therapy dropped about 92 percent in the first 12 months after the treatment with the investigational therapy.

    In the six participants who received the highest gene therapy dose, levels of the blood-clotting protein increased from less than 1 percent of normal levels to 5 percent or more. The increase transformed their disease from severe to mild and enabled participation in sports such as soccer without the need for Factor IX replacement therapy or an increase in the risk of bleeding. Episodes of spontaneous bleeding and use of Factor IX replacement therapy declined for these patients more than 94 percent in the next 12 months.

    Liver enzymes rose in four of the six patients who received the highest dose, possibly due to an immune response against the vector. The men had no symptoms and remained otherwise healthy. Their liver enzymes returned to the normal range following brief treatment with steroids.

    Hemophilia B is caused by a mutation in the Factor IX gene that can result in dangerously low levels of the essential clotting protein. The disorder affects about 1 in 30,000 individuals, mostly men. For those with severe disease marked by Factor IX levels less than 1 percent of normal, scrapes and bumps are medical emergencies. Painful episodes of spontaneous bleeding can result in crippling joint damage early in life and an increased risk of potentially fatal bleeding within the brain.

    "This study provides the first clear demonstration of the long-term safety and efficacy of gene therapy," said senior author Andrew Davidoff, M.D., chair of the St. Jude Department of Surgery. "The results so far have made a profound difference in the lives of study participants by dramatically reducing their risk of bleeding."

    The paper's first and corresponding author, Amit Nathwani, M.D., Ph.D., added: "The data we are reporting mark a paradigm shift in treatment of hemophilia B and lay the groundwork for curing this major bleeding disorder." Nathwani is a faculty member at the UCL Cancer Institute, Royal Free Hospital and NHS Blood and Transplant. "The results also provide a solid platform for developing this gene transfer approach for treatment of other disorders ranging from other congenital clotting deficiencies like hemophilia A to inborn errors of metabolism such as phenylketonuria."

    Prior to receiving gene therapy, seven of the 10 men received Factor IX replacement therapy at least once a week in order to prevent bleeding episodes. Others used replacement therapy as needed to halt bleeding or prior to surgeries.

    Since joining the trial, four of the seven men ended the routine Factor IX injections. None have suffered spontaneous bleeding despite increased physical activity. "Some patients have not required clotting factor injections for more four years, which has been life changing," Nathwani said. Researchers estimated that overall spending on Factor IX replacement therapy for study participants is down more than $2.5 million.

    Factor IX is normally produced by liver cells. AAV8 was selected for the vector because the virus infects liver cells but does not cause disease in humans or integrate into human DNA. This study was restricted to patients not previously infected with AAV8 to eliminate the need for immune-suppressing drugs to protect the vector from possible immune system attack.

    The vector was developed by the St. Jude-UCL collaboration and produced at the Children's Good Manufacturing Practices (GMP), LLC, on the St. Jude campus. The Children's GMP operates under U.S. government-approved manufacturing guidelines and is also complaint with European Union manufacturing requirements. It produces highly specialized medicines, vaccines and other products that are in the early stages of development.

    Twelve men have now joined the on-going Phase I/II safety and efficacy trial. Half were treated at UCL and half at St. Jude.

    Discussions are underway about expanding the trial to include younger patients with hemophilia B.

    Meanwhile work continues to improve and expand use of the vector for treatment of hemophilia A, another more common bleeding disorder.
    http://www.sys-con.com/node/3235531



    Exclusive: First gene therapy drug sets million-euro price record

    By Ludwig Burger and Ben Hirschler
    FRANKFURT/LONDON Wed Nov 26, 2014 12:52pm EST




    An operator installs a chromatography column to purify the gene therapy drug Glybera at Dutch biotech company uniQure in Amsterdam December 13, 2012.
    Credit: Reuters/Michael Kooren



    (Reuters) - The Western world's first gene therapy drug is set to go on sale in Germany with a

    1.1 million euro ($1.4 million) price tag,


    a new record for a medicine to treat a rare disease.

    The sky-high cost of Glybera, from Dutch biotech firm UniQure (QURE.O) and its unlisted Italian marketing partner Chiesi, shows how single curative therapies to fix faulty genes may upend the conventional pharmaceutical business model.

    After a quarter century of experiments and several setbacks, gene therapy is finally throwing a life-line to patients by inserting corrective genes into malfunctioning cells - but paying for it poses a challenge.

    The new drug fights an ultra-rare genetic disease called lipoprotein lipase deficiency (LPLD) that clogs the blood with fat. The medicine was approved in Europe two years ago but its launch was delayed to allow for the collection of six-year follow-up data on its benefits.

    Now Chiesi has filed a pricing dossier with Germany's Federal Joint Committee, or G-BA, which will issue an assessment of the drug’s benefits by the end of April 2015. The company is seeking a retail price of 53,000 euros per vial, or 43,870 euros ex-factory.

    That equates to 1.11 million euros for an typical LPLD patient, averaging 62.5 kg in clinical trials, who will need 42 injections from 21 vials. This price will be subject to a standard 7 percent discount under Germany's drug pricing system.

    Under German rules, the launch price for a new drug is valid for the first 12 months.

    A Chiesi spokeswoman confirmed the launch price, in response to inquiries from Reuters, prompted by information from health insurance sources. She added that a final figure would be set after the G-BA gives its verdict and negotiations are held with statutory health insurance funds.

    "First commercial treatments are expected in the first half 2015," she said.

    UniQure, which will get a net royalty of between 23 and 30 percent on sales, said EU pricing was a matter for its Italian partner, although the Dutch firm does plan to discuss Glybera pricing during an investor meeting in New York on Dec. 1.

    BENCHMARK PRODUCT

    With only 150 to 200 patients likely to be eligible for Glybera across Europe, the impact on healthcare budgets will be small, even at a very high price - but this case will be watched closely as a benchmark for future gene therapies.

    UniQure also has plans to seek approval for Glybera in the United States, which it hopes to get in 2018.

    Although there is already a gene therapy for cancer on the market in China that drug has not been rolled out to other countries, making Glybera a first for the Western world.
    Proponents of the gene-fixing technology insist it stacks up as a

    cost-effective treatment, despite the high cost,
    since it could permanently cure many patients.



    In the case of Glybera, Chiesi said the annualized cost was no more than that charged for some expensive enzyme replacement therapies used in other rare diseases, taking into account the drug's proven benefits of at least six years.

    The drug consists of a harmless modified virus that carries a corrective gene into the body's cells.

    UniQure is also working on gene treatments for hemophilia and has an early-stage project in heart failure, which would take gene therapy beyond the rare disease space.

    Assuming trials are successful, analysts expect gene medicines treating more common conditions to cost less, since manufacturers should be able to recoup their research and development investment from a larger patient group.

    Rivals in the gene therapy market include privately owned Spark Therapeutics, which has an eye drug in late-stage clinical tests, and Bluebird Bio (BLUE.O), which is working on drugs for neurological and blood disorders.

    Bluebird Bio and UniQure both staged successful floats on the Nasdaq market in the past 18 months, reflecting growing investor interest in the field.

    Among major pharmaceutical companies, Bayer (BAYGn.DE) struck a gene therapy deal with Dimension Therapeutics in June, while Novartis (NOVN.VX) recently established a new cell and gene therapies unit, and Sanofi (SASY.PA) has a long-standing tie-up with Oxford BioMedica (OXB.L).
    http://www.reuters.com/article/2014/...0JA1TP20141126
    Last edited by presence; 12-05-2014 at 11:40 AM.

    'We endorse the idea of voluntarism; self-responsibility: Family, friends, and churches to solve problems, rather than saying that some monolithic government is going to make you take care of yourself and be a better person. It's a preposterous notion: It never worked, it never will. The government can't make you a better person; it can't make you follow good habits.' - Ron Paul 1988

    Awareness is the Root of Liberation Revolution is Action upon Revelation

    'Resistance and Disobedience in Economic Activity is the Most Moral Human Action Possible' - SEK3

    Flectere si nequeo superos, Acheronta movebo.

    ...the familiar ritual of institutional self-absolution...
    ...for protecting them, by mock trial, from punishment...




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  3. #2
    My family have donated to St. Jude for years. I pray this gene therapy works so your son can lead a healthy happy life.
    “The spirits of darkness are now among us. We have to be on guard so that we may realize what is happening when we encounter them and gain a real idea of where they are to be found. The most dangerous thing you can do in the immediate future will be to give yourself up unconsciously to the influences which are definitely present.” ~ Rudolf Steiner

  4. #3
    Prayers and more prayers going out for your precious little son((((presence's family)))))).

  5. #4

    'We endorse the idea of voluntarism; self-responsibility: Family, friends, and churches to solve problems, rather than saying that some monolithic government is going to make you take care of yourself and be a better person. It's a preposterous notion: It never worked, it never will. The government can't make you a better person; it can't make you follow good habits.' - Ron Paul 1988

    Awareness is the Root of Liberation Revolution is Action upon Revelation

    'Resistance and Disobedience in Economic Activity is the Most Moral Human Action Possible' - SEK3

    Flectere si nequeo superos, Acheronta movebo.

    ...the familiar ritual of institutional self-absolution...
    ...for protecting them, by mock trial, from punishment...


  6. #5
    I have a friend with hemophilia. Not sure what type but thankfully it's mild. Still not the easiest thing to deal with. I hope a permanent cure is found and your son gets it.

  7. #6
    Quote Originally Posted by Uriah View Post
    I hope a permanent cure is found and your son gets it.
    ..

    Risks

    By Mayo Clinic Staff

    Gene therapy has some potential risks. A gene can't easily be inserted directly into your cells. Rather, it usually has to be delivered using a carrier, called a vector. The most common gene therapy vectors are viruses because they can recognize certain cells and carry genetic material into the cells' genes.
    Researchers remove the original disease-causing genes from the viruses, replacing them with the genes needed to stop disease.
    This technique presents the following risks:

    • Unwanted immune system reaction. Your body's immune system may see the newly introduced viruses as intruders and attack them. This may cause inflammation and, in severe cases, organ failure.
    • Targeting the wrong cells. Because viruses can affect more than one type of cells, it's possible that the altered viruses may infect additional cells — not just the targeted cells containing mutated genes. If this happens, healthy cells may be damaged, causing other illness or diseases, including cancer.
    • Infection caused by the virus. It's possible that once introduced into the body, the viruses may recover their original ability to cause disease.
    • Possibility of causing a tumor. If the new genes get inserted in the wrong spot in your DNA, there is a chance that the insertion might lead to tumor formation. This has occurred occasionally in some clinical trials.

    The gene therapy clinical trials under way in the U.S. are closely monitored by the Food and Drug Administration and the National Institutes of Health to ensure the safety of those who participate in the studies.
    http://www.mayoclinic.org/tests-proc...s/prc-20014778

    'We endorse the idea of voluntarism; self-responsibility: Family, friends, and churches to solve problems, rather than saying that some monolithic government is going to make you take care of yourself and be a better person. It's a preposterous notion: It never worked, it never will. The government can't make you a better person; it can't make you follow good habits.' - Ron Paul 1988

    Awareness is the Root of Liberation Revolution is Action upon Revelation

    'Resistance and Disobedience in Economic Activity is the Most Moral Human Action Possible' - SEK3

    Flectere si nequeo superos, Acheronta movebo.

    ...the familiar ritual of institutional self-absolution...
    ...for protecting them, by mock trial, from punishment...


  8. #7
    GMO humans. Hope it works!

    With only 150 to 200 patients likely to be eligible for Glybera across Europe, the impact on healthcare budgets will be small, even at a very high price - but this case will be watched closely as a benchmark for future gene therapies.
    That is why the price is so high- only a few buyers to try to pay back their costs not just of producing it but developing it.
    Last edited by Zippyjuan; 12-06-2014 at 03:31 PM.



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