Jack Johnson, Co-Founder and Executive Director of FSIG, discusses symptom and treatment burden in Fabry disease.
Fabry disease is a rare lysosomal storage disease characterized by a deficiency in the enzyme alpha-galactosidase (alpha-GAL). Alpha-GAL helps break down a fatty acid called globotriaosylceramide (GL3). Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, clusters of small angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Fabry disease is caused by changes in the GLA gene.
Symptom Burden
Mr. Johnson explains that the most burdensome symptoms for patients with Fabry disease are typically those that are difficult to measure, and therefore manage. This most notably includes pain, fatigue, inadequate temperature regulation, and gastrointestinal issues. While these symptoms cannot be measured through medical tests, they are often measured via patient reported outcome surveys.
Alternatively, health care practitioners tend to focus on symptoms that can be measured through imaging or blood and urine testing. The focus on these components of Fabry disease can be frustrating to patients who may not experience effect on daily life due to these symptoms. However, Mr. Johnson notes the importance of these tests in addressing issues early on before they become bigger problems that do affect a patient’s daily life.
Treatment Burden
An additional burden for patients with Fabry disease is the burden of treatment with enzyme replacement therapy. Many patients with Fabry disease receive transfusions once every two weeks, greatly impacting daily activities such as school and work. This can also make travel difficult as patients have to plan around their transfusion appointments, with some patients noticing changes in symptoms if an appointment is off by even just one day. Initiation of therapy can also pose challenges such as not noticing any effects up to 6 months to one year after. This causes many patients to discontinue treatment and only return when medically necessary.
Because of such great burdens of symptoms and treatment in Fabry disease, patients are hopeful for advancements that address these unmet needs. Mr. Johnson discusses the hopes of patients for a new therapy that would reduce the number of infusions per year or even for a one-time gene therapy.
To learn more about Fabry disease and other rare lysosomal storage conditions, visit https://checkrare.com/diseases/lysosomal-storage-disorders/