Fabry insights from WORLDSymposium: An interview with Giacomo Chiesi
The annual WORLDSymposium™ research meeting is the largest lysosomal disease meeting and exposition in the world, attracting over 3,000 attendees from more than 60 different countries. Reflecting on the event in Orlando, Florida, USA, Giacomo Chiesi, Head of Chiesi Global Rare Diseases, explains what drives him and his teams to revolutionise the lives of people living with rare diseases
Chiesi Global Rare Diseases works in collaboration with the Chiesi Group to harness the full resources and capabilities of its global network to bring innovation and value, with the patient at the centre of everything it does. “Chiesi Global Rare Diseases is a dedicated partner supporting the work of global leaders in patient advocacy, research and patient care to gain a greater understanding of the unmet needs and challenges for people living with rare diseases,” explains Giacomo.
The Chiesi Group, a family-run business, was founded in 1935 in Italy by Giacomo’s grandfather, who instilled through generations the mission of making a positive and long-lasting impact on patients and society. Critical to mission success is stepping into the shoes of patients and recognising that patient advocacy is a powerful tool for change.
“One of the most striking features of this meeting is that patients and patient advocates stand shoulder-to-shoulder with clinical researchers, scientists, regulators and companies. I believe this is a vital ingredient in bringing innovation to the real lives of patients who can articulate better than anyone what living a rare life is like to enable hope and definitive, integrated solutions,” explains Giacomo.
Giacomo stresses the importance of the patient perspective, particularly patient-focused data, to gain a broad and deep understanding of quality-of-life issues, especially for heterogenous diseases such as Fabry disease. He explains: “Understanding patient experiences in health outcome measurements and treatment can help optimise future patient care. Patients are the beginning and the end of our journey and the reason I go to the office every day.”
Fabry disease is a rare, progressive, potentially life-threatening lysosomal storage disorder that leads to the progressive accumulation of abnormal deposits of a fatty substance in blood vessel walls throughout a person’s body. It is a multisystemic organ disease and patients experience a wide range of signs and symptoms including episodes of pain, impaired peripheral sensation, and eventually end-organ failure of the kidneys, heart and the cerebrovascular system. Fabry disease occurs in one in 40,000 to 60,000 people.
However, the range of physical symptoms and complications varies from one person to another. Disease progression may be influenced by the sex of the individual (male or female) and how the multisystem disease presents, which is classified as either non-classical (mild form) or classical (severe form).
Lisa Berry, a licensed genetic counsellor from Cincinnati Children’s Hospital Medical Center, Ohio, noted in her survey presented at the meeting that most people living with Fabry disease perceive their disease as progressing despite stable laboratory values and clinical assessment. The patient-reported survey data also show that more than half of patients who had ever received enzyme replacement therapy (ERT) experienced temporary symptom worsening between infusions, but only half of these patients reported speaking to their physician about their symptoms. Almost half of patients who had received or were currently receiving ERT at the time of the survey were unsure whether they had been tested for antidrug antibodies (ADAs) or were unaware of such a test. Only a third who reported being tested for ADAs recalled the results.
Giacomo comments: “Patients with Fabry disease often perceive their disease as burdensome. These patient-reported data indicate that patients could benefit from more discussion with their healthcare providers around their illness beliefs and education to support living with Fabry disease.”
Giacomo adds that although the physical symptoms of Fabry disease are well described in the literature on a population basis, patients and their families could benefit from a better understanding of individuals’ experience, with a focus on the manifestation of psychological symptoms which can impair patients’ quality of life and daily activities.
Against this background, Chiesi Global Rare Diseases is initiating a collaboration with the National Alliance on Mental Illness (NAMI) to offer mental health resources for people living with Fabry disease.“We are grateful for the opportunity to partner with NAMI, an organisation that shares our commitment to deliver solutions that can revolutionise patients’ lives.”
As part of the collaboration, CGRD and NAMI are launching a new website, Mindfully Rare, specifically designed to support the mental health of people with Fabry disease and their caregivers. The website includes information about the symptoms of mental illness, coping strategies, real life stories from people living with Fabry disease and resources for caregivers.
“This initiative represents a new opportunity to address an unmet need in Fabry disease. We hope it will make a difference for patients and their caregivers by reducing some of the burden of living with Fabry disease through opening conversations with support and offering hope” – Giacomo
This digital spotlight has been made possible with financial support from Chiesi Global Rare Diseases. This article was written by Chiesi Global Rare Diseases with the interview and writing support of Rhonda Siddall of Onrush Productions. All opinions are those of the contributors. RARE Revolution Magazine and Chiesi Global Rare Diseases are not responsible for the content of any external sites linked to within this article. Chiesi Global Rare Diseases retains all copyright.