Frequency of Intron 22 Inversion in Severe Hemophilia A Patients
FDA Approves First Gene Therapy For Severe Hemophilia A
The U.S. Food and Drug Administration on Thursday approved a costly single-dose gene therapy for patients with severe hemophilia A, a life-threatening hereditary bleeding disorder.
The treatment is not cheap: Roctavian will cost $2.9 million for a single infusion, the Associated Press reported.
"Hereditary hemophilia A is a potentially serious bleeding disorder. Severe cases of hemophilia A can cause life-threatening health issues due to increased risk of uncontrolled bleeding," Dr. Peter Marks, director of the FDA's Center for Biologics Evaluation and Research, said in an agency news release. "Today's approval represents an important advance in providing treatment options for patients with this bleeding disorder, and treatment with gene therapy may reduce the need for ongoing routine therapy."
For patients, this means a potential reduction in uncontrolled bleeding. Left untreated, severe hemophilia A can cause life-threatening bleeding into vital organs, including the kidneys and brain.
Drug maker BioMarin Pharmaceutical Inc. Told the AP that the drug's astronomical price tag reflects "the possibility of freedom from years" of infusions with other medications. Those infusions typically run about $800,000 each year for patients, the AP said.
Hemophilia A is caused by a mutation on a gene which produces a protein that enables blood to clot. This protein is called Factor VIII. The condition primarily affects males. How frequent and severe bleeding episodes are depends on the amount of FVIII protein a person produces. In about 60% of cases, people with severe hemophilia A have less than 1% of FVIII in their blood.
Before now, treatment has involved FVIII replacement therapy or an antibody-based medication, the FDA said.
Roctavian is a viral vector that carries the gene for Factor VIII. It reduces the risk of uncontrolled bleeding by delivering the gene into the liver, to increase blood levels of FVIII.
The approval was based on a multinational study in adult men ages 18 to 70 who had previously had FVIII replacement therapy determined the drug's safety and effectiveness. A total of 112 patients were followed for at least three years.
Those treated in the study had far fewer bleeding incidents. Their mean annualized bleeding rate dropped from 5.4 times each year to 2.6. Most of those who received Roctavian also took corticosteroids to suppress their immune system. The FDA noted that treatment response may decrease over time.
Adverse reactions seen in the study included mild changes in liver function, headache, nausea, vomiting, fatigue, abdominal pain and infusion-related reactions.
The treatment is not without risks. The FDA recommends close monitoring for infusion-related reactions and elevated liver enzymes. An increase in FVIII activity could potentially increase the risk of blood clots, the FDA noted. The product also carries a potential cancer risk.
More information: The National Hemophilia Association has more on hemophilia A.
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Woman Told She Won't Live Past 35 As She Lives With Six Medical Conditions
Hanna Hamm is a ticking medical time bomb — the 22-year-old will likely die before she reaches age 35.
The Claremont, California, resident suffers from six grim diagnoses, and her doctors are trying to figure out a seventh mystery illness.
At the age of eight, she was diagnosed with Ehlers Danlos Syndrome, a genetic disorder that causes joint pain, an abnormal foot structure, elbow dislocations or bluish tints to the skin, according to the National Institutes of Health.
When she was 15, she was diagnosed with Hemophilia A, a genetic disorder that causes blood clot failures. For Hamm, it was particularly dangerous, as she was going through adolescence and experiencing menstrual cycles that would last for as long as 20 days.
Haemophilia A is a rare blood disorder that usually doesn't affect women (Image:
mediadrumimages/Hanna Hamm)The diagnosis for postural tachycardia syndrome came at 20 — POTS, as it is commonly referred to, causes drastic increases in patients' heart rates when they sit or stand up. The condition causes Hamm to faint as many as 10 times per day.
At 21, lupus and Raynaud's phenomenon were added to her list of ailments.
The symptoms of lupus are many and can include muscle and joint pain, rashes, fevers, hair loss, chest pain, sun sensitivity, eye disease, anemia, fatigue or memory loss, according to the Centers for Disease Prevention and Control. It's often associated with Raynaud's phenomenon, which causes numbness in the fingers or toes, the Lupus Foundation of America says.
She also possibly has an aortic aneurism.
On top of all that, she started experiencing intense, long seizures this year at age 22, and the condition has baffled her doctors, who are scrambling to diagnose the issue.
Hamm's first diagnoses occurred when she was a young child (Image:
mediadrumimages/Hanna Hamm)For up to 20 minutes at a time, she'll lay prone on the floor, unable to move or communicate, staring blankly at the ceiling. Her husband, 28-year-old firefighter Zachary, will shake her and yell her name, but she won't wake up.
When she finally does, she's often left confused and asks her husband the same questions repeatedly.
Because of her many conditions, she said she spends the majority of her time at home with Zachary or her parents looking after her.
Her mother suffered from many of the same conditions as well, which is how Hamm might have come to be diagnosed with them.
She said she's often in immense pain and struggles to perform regular daily tasks like walking or driving.
She feels isolated, too — people have gawked at her, screamed at her and treated her poorly in public, she said, in nasty displays of ableism.
Hamm's mystery seizure condition is baffling doctors (Image:
mediadrumimages/Hanna Hamm)"You would be insanely surprised how different people treat you when you're disabled," she said. "I've had people yell at my husband calling me drunk during my fainting spells. I've had someone step on me when I've fainted before. I have had people move my wheelchair out of the way so much more."
The bullying and her inability to perform simple tasks has paved the way toward severe anxiety, depression and bipolar disorder. She said she often feels worthless.
"There are a lot of days I feel like giving up, that I'm a waste of space and someone as sick as me isn't worth being around," she said. "I feel guilty staying at home sick while my husband is out saving lives."
Hamm used to be an EMT but lost her job when the fainting spells began — it was too dangerous, both for her and her patients, for her to be out trying to help people with her condition.
She had dreams of becoming a firefighter like her dad and husband.
People have bullied Hamm for her conditions (Image:
mediadrumimages/Hanna Hamm)"I miss being able to drive and work and have a normal life and I miss being able to walk around without pain or collapsing in a syncope," she said. "I feel like I don't have a 'normal' life for someone my age, that I don't get to do a lot of things people my age are doing."
Her average day now consists of her waking up every morning, taking loads of medications and drinking water. Then, she calls her parents, who pick her up and take her to their home.
She stays with her parents until the evening, and they take care of her during her episodes.
Back at home, she showers in her chair, then settles back in bed and takes more medication.
Oftentimes, she has to crawl the bathroom because her pain or episodes are so bad.
Hanna's Raynaud's Syndrome causes her problems mostly in the colder months (Image:
mediadrumimages/Hanna Hamm)To manage her conditions, Hamm eats lots of salt in her diet, which theoretically helps her minimise her seizures. She also uses mobility aids, gets IV transfusions and goes to physical therapy.
Because of her Hemophilia, she had the lining of her uterus cauterised to prevent excessive bleeding.
But amid the pain and chaos, Hamm has found happiness and has a positive outlook on life. She thoroughly enjoys going to Disneyland.
"I am a pass holder and Disney has a lot of great accommodations for disabled people and it's fun to escape it all at the happiest place on Earth," she said. "When I spend most of my days at home extremely sick, it's nice to get a break from it all at Disney."
What Is Hemarthrosis?
Hemarthrosis is a condition characterized by an artery bleeding in a joint cavity where two bones meet. It's common following an injury or in people who suffer from bleeding disorders like hemophilia. Learn about the signs of hemarthrosis and how to treat and prevent bleeding in your joints.
Your body has many joints, from small ones that allow you to bend your fingers to larger ones like your hips and knees. You have a joint that allows a range of motion where any two bones meet.
Some joints are synovial joints, named after the fluid between your bones. Synovial fluid protects your bones by serving as a cushion. It allows bones that meet to slide past one another during movement without friction that may cause damage.
Synovial joints include your:
Non-synovial joints include your:
When blood flows into your synovial joints, it negatively impacts the synovial fluid, leading to joint damage. If it happens because of an injury, you're likely to heal and recuperate. But if it repeatedly happens to a joint, it can lead to arthritis. When damage is severe, you can't move your joint without pain.
If you experience swelling following an injury, it likely involved damage to your soft tissue, bone, ligaments, or cartilage.
Blood disorders and other conditions that contribute to hemarthrosis include:
Other health conditions that may lead to hemarthrosis include:
If you think you're prone to joint bleeding, talk to your doctor. You may have one or more painful joints, persistent or recurring swelling, and loss of movement in your joints. First, your doctor asks about your concerns, so be prepared to provide as many details as you can.
Next, your doctor completes a physical exam to determine the following steps. Your doctor will want to rule out other possibilities and pinpoint a reason for your hemarthrosis. Tests may include:
If your joint is swollen, your doctor may want to extract a sample to see if any blood is mixed in with your synovial fluid. They use a sterilized needle to inject into the joint and withdraw a sample. This technique may also be used to relieve pressure on your joint.
Your doctor tests the fluid for signs of a bacterial infection, gout, and other disorders. Your doctor may not test joint fluid if you already have a known chronic health condition like osteoarthritis.
An X-ray won't show damage to your soft tissue or cartilage. It will help determine if damage to the area was severe enough to fracture your bone or uncover a bone tumor or osteonecrosis.
An MRI or CT scan is more detailed than an X-ray and shows your joints, tendons, and muscles in addition to bones. These scans are used to look for abnormalities in your joints that may contribute to hemarthrosis. They also show minor fractures that may not appear on an X-ray.
In hemophilia, replacement of the missing blood factor should be done as soon as bleeding in a joint is suspected. When hemarthrosis is treated early, you can prevent chronic joint disease. No matter the cause of hemarthrosis, the following treatments are typically used as well:
The best way to address hemarthrosis is to prevent it. In hemophilia, this means using regularly scheduled infusions as prophylaxis or a preventative measure. In all cases of hemarthrosis, the same treatments used to address the condition may also help prevent damage from being severe. Your doctor may use a splint to immobilize your joint and allow it to heal quicker. It's important to rest a joint that sustains damage to prevent continued bleeding.
Your doctor wants you to increase your strength around joints that are particularly affected by hemarthrosis. This helps to improve your range of motion and balance, leading to fewer injuries during everyday activities.
It's also important to maintain a healthy diet and healthy weight. When you get the right nutrients, like calcium and vitamin D, to maintain strong bones, you're less likely to suffer from hemarthrosis. When you maintain a healthy weight, you have less pressure on your joints, limiting the everyday wear and tear that occurs.
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