Woman with Life-Threatening Condition is Thankful for New Treatment

November 22, 2018

(BPT) - Before her diagnosis with hereditary ATTR (hATTR) amyloidosis, Gail had a healthy, active social life. She was a professional concert pianist and university professor of piano. She founded an international piano festival in Paris, France to promote the authentic interpretation of French piano music. Gail was even knighted by the French government for her efforts. Gail is a mother of two children and her many hobbies included watercolor painting, hand quilting, cooking, entertaining friends, and playing bridge with her husband.

In 2012, Gail started experiencing pins and needles in her fingers and feet. Over time, these symptoms increased in severity and eventually led to pain and numbness. Her symptoms became so debilitating that Gail lost the ability to hold a fork or write legibly with her right hand. Balance and walking subsequently became problems, and severe gastrointestinal issues arose. She soon lost her ability to play the piano, ending her lifelong career.

For a number of years, Gail saw a variety of medical specialists about her symptoms, but no one could find an answer. Finally, in 2017, Gail underwent a series of blood tests, nerve-conduction tests, biopsies and a genetic test, which led to a diagnosis of hATTR amyloidosis.

“Hereditary ATTR amyloidosis is a complex, life-threatening and genetic condition that can cause a variety of symptoms, including numbness, pain or weakness in limbs, fatigue and gastrointestinal distress,” said Dr. Michael Polydefkis, MD, Professor of Neurology at Johns Hopkins University. “As the condition progresses, symptoms may worsen — leading to significant disability, decreased quality of life and a shortened life expectancy.”

“I was dumbfounded. I had never heard of hATTR amyloidosis and didn’t have any known family history of the illness,” said Gail, whose children have since tested negative for the gene mutation that can cause hATTR amyloidosis.

After being diagnosed, Gail’s doctor encouraged her to enroll in an Early Access Program for an investigational therapy, patisiran, which has since been approved by the U.S. Food and Drug Administration for the treatment of the polyneuropathy of hATTR amyloidosis in adults. The drug is now marketed under the name ONPATTROTM (patisiran) lipid complex injection and was the first treatment to be approved by the FDA for this indication. ONPATTRO is a first-of-its-kind RNA interference (RNAi) therapeutic, which uses a natural cellular process of gene silencing to block the production of disease-causing proteins. The FDA approved ONPATTRO based on the results of a clinical trial of patients with hATTR amyloidosis with polyneuropathy, which compared ONPATTRO to placebo.

“Since starting treatment with ONPATTRO, my digestion problems have subsided,” Gail said. “While pain persists in my hands and legs, the pain in my upper limbs and torso have not gotten worse — for me, that is a positive development.”

While Gail may no longer be a professional pianist, treatment with ONPATTRO has allowed her to resume many daily activities she was previously struggling with. “I know it is unlikely I’ll walk unaided again, but I’m thankful that ONPATTRO has allowed me to keep moving.”

If you, or a family member, are struggling with hATTR amyloidosis or think you may be experiencing symptoms related to the disease, speak with your doctor about ONPATTRO and visit ONPATTRO.com for additional information, including the full Prescribing Information.

*Gail is partnering with Alnylam Pharmaceuticals to increase awareness of hATTR amyloidosis.


What are the most important things I should know about ONPATTRO?

ONPATTRO can cause:

Infusion-related reactionsONPATTRO is given as a drip into a vein (called an “intravenous infusion”). Reactions to this infusion may happen during treatment with ONPATTRO. Before each infusion you will be given medicines that help to lower the chance of infusion-related reactions.Tell your doctor or nurse right away if you experience any of the following signs of an infusion-related reaction during treatment:

Reddening of the face or body (flushing), skin warmBody aches or pain, including pain in the back, neck, or jointsFeeling sick (nausea)Stomach painFeeling short of breath, cough, or other breathing problemsHeadacheChest discomfort or chest painRashChillsDizzinessFeeling tired (fatigue)Rapid heart rateFacial swelling If you have an infusion-related reaction, your doctor or nurse may slow down or stop your infusion, and you may need to take other medicines. When these reactions stop, or get better, your doctor or nurse may decide to start the infusion again.

Low Vitamin A levelsTreatment with ONPATTRO lowers the amount of vitamin A in your blood. Your doctor will tell you to take a vitamin A supplement every day. You should not take more than the amount of vitamin A recommended by your doctor.Low vitamin A levels can affect vision. If you have problems with your vision (e.g., night blindness) while taking ONPATTRO, talk to your doctor. Your doctor may refer you to an eye specialist.

What are the common side effects of ONPATTRO?

The most common side effects of ONPATTRO are respiratory infections, such as colds, sinus infections, and nasal congestion, and infusion-related reactions. These are not all the possible side effects of ONPATTRO. Talk to your doctor about side effects that you experience. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.


What is ONPATTRO™ (patisiran)?

ONPATTRO is a medicine that treats the polyneuropathy caused by an illness called hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis). ONPATTRO is used in adults only.

For additional information about ONPATTRO, please see the full Prescribing Information at www.onpattro.com.

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