Empowering the Rare Disease Community for 20 Years: The Fabry Patient
Posted: July 17, 2023 | Word Count: 2,336
Living with a rare disease may not be as rare as you would think: Affecting one in 10 Americans, there are more than 10,000 known rare diseases in the U.S.1 While significant strides to develop treatments have been made in recent decades, broadscale awareness of disease remains a challenge. The path to diagnosis and proper care can be long and frustrating.
For example, Fabry disease is a rare genetic disease. Classic Fabry disease affects approximately 1 in 40,000 males and 1 in 20,000 females in the U.S.2 Fabry disease can affect multiple organs and tissues, including the heart, kidney and central nervous system in both males and females. Symptoms can include pain, gastrointestinal difficulties, fatigue, and skin lesions called angiokeratomas.3 Undiagnosed and untreated, Fabry disease can reduce life expectancy by 5-14 years in women and 16 years in men. Fabry disease is progressive and challenging to diagnose.4
Understanding a rare disease diagnosis can be cumbersome and stressful; for this reason, the power of community is exceptionally critical for these individuals. Through the collective sharing of Fabry journeys, hurdles and victories, valuable insights into the long-term impact of the disease can fuel ongoing research. These learnings have and continue to help the research and development of Fabry disease treatment — including Fabrazyme (agalsidase beta), which is approved in adults and pediatric patients two years of age and older with a confirmed Fabry diagnosis. Fabrazyme was approved in the United States 20 years ago and is currently used by more than 6,000 adult and pediatric patients worldwide and continues to serve as a safe and efficacious option for those living with Fabry.
“The path to receiving a Fabry diagnosis can be both time-consuming and overwhelming,” said Jennifer Ibrahim, Head of North America Medical Affairs, Rare Disease at Sanofi. “Since its approval in 2003, Sanofi has been proud to continue to offer hope to this important rare disease community.”
In the world of rare diseases, knowledge is power. Making the effort to familiarize oneself with rare diseases, symptoms and resources could be the key to a diagnosis and proper treatment.
“Sanofi wants those living with Fabry to know they’re not alone,” said Duane Clark, General Manager, Rare Disease at Sanofi. “We see you, we hear you and we will continue to put our science toward supporting you.”
For more information about Fabry disease, visit www.fabrazyme.com.
IMPORTANT SAFETY INFORMATION
Fabrazyme can cause serious side effects, including:
Severe Allergic (anaphylaxis) and Hypersensitivity Reactions
Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic (allergic) or severe hypersensitivity reactions during their infusion. Life-threatening severe anaphylactic (allergic) or severe hypersensitivity reactions have been seen in patients during Fabrazyme infusions.
- These reactions included: swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion.
- People who have experienced these reactions have required treatment including heart/lung resuscitation, oxygen, fluids given through a vein, hospitalization, and treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenaline), and a medication given through the vein called a corticosteroid (or steroid) which helps to decrease the body’s allergic reaction by decreasing inflammation.
- If you experience a severe allergic or anaphylactic reaction, your healthcare professional will immediately stop the infusion of Fabrazyme and provide you the necessary emergency medical treatment. Because of the possibility that severe hypersensitivity reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.
In the clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are a specific kind of antibody that can sometimes be produced by the body’s immune system during an allergic reaction.
- Higher amounts of hypersensitivity reactions were seen in adult patients whose immune systems repeatedly made anti-Fabrazyme antibodies and in patients who had high antibody titers (units used to measure how much anti-drug-antibody your immune system is making) compared to adult patients with negative antibody titers.
- Your doctor should consider testing for IgE antibodies if you experience suspected allergic reactions. Providing Fabrazyme to patients who have experienced severe or serious allergic reactions to Fabrazyme should only be done after carefully considering the risks and benefits of continuing the treatment, and only under the direct supervision of a qualified healthcare professional and with appropriate medical support readily available.
In clinical studies with Fabrazyme, 59% of patients experienced infusion-associated reactions during Fabrazyme administration, some of which were severe. Infusion-associated reactions are defined as adverse reactions occurring on the same day as your infusion. During the clinical trials, infusion-associated reactions occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than in patients who did not have anti-Fabrazyme antibodies.
- For patients who have had reactions to their infusions, it is recommended that they be given anti-fever and antihistamine medications right before their next infusions. Infusion-associated reactions have happened in some patients even after taking these medications before their infusions.
- If an infusion-associated reaction occurs, slowing the infusion rate, stopping the infusion for a short time and/or giving more anti-fever and antihistamine medications and or steroids may improve the symptoms.
- If severe infusion-associated reactions happen, your healthcare professional should consider stopping the Fabrazyme infusion right away and should provide medical care for your condition. Severe reactions are generally managed by giving antihistamine medications, corticosteroids, fluids through the vein, and/or oxygen when needed. Because severe infusion-associated reactions may happen, medical treatment should be readily available during your Fabrazyme infusion.
- People with advanced Fabry disease may have heart problems which could put them at a higher risk for severe complications from infusion-associated reactions. These patients should be watched closely during their infusion if the decision is made to give them Fabrazyme.
Common and Other Possible Side Effects: Common side effects reported in 20% or more of Fabrazyme treated patients in clinical studies compared to placebo were upper respiratory tract infection, chills, fever, headache, cough, burning and/or tingling sensation, fatigue, swelling in the legs, dizziness and rash.
INDICATION AND USAGE
Fabrazyme® is used to treat adults and children 2 years of age and older with confirmed Fabry disease.
Please see full Prescribing Information for Fabrazyme.
 Genetic and Rare Diseases Information Center. What is a Rare Disease. Available at https://rarediseases.info.nih.gov/about. Accessed on May 16, 2023
 Fabry Institute. Epidemiology of Fabry Disease. Available at https://fabry-institute.com/burden-of-disease/epidemiology-of-fabry-disease. Accessed on May 16, 2023
 Genetic and Rare Diseases Information Center. Fabry disease. Available at https://rarediseases.info.nih.gov/diseases/6400/fabry-disease. Accessed on May 16, 2023
 Waldek S, Patel M, Banikazemi M, et al., American College of Medical Genetics. Life expectancy and cause of death in males and females with Fabry disease: Findings from Fabry. Accessed on May 16, 2023