2023 China Fabry Annual Conference Report

More than 100 experts and scholars in the field of Fabry, pharmaceutical company representatives, social public welfare organizations and of course Fabry patients and their families attended the meeting in person and another 300 people followed the meeting through the online live broadcast platform. The meeting consisted of two major parts: a patient workshop and expert presentations.

The patient workshop in the morning was divided in three parts: Past, Present and Future. Old friends recalled the past, patient representatives shared their experience on living with Fabry in the present, and finally everyone took part in discussions on how to look forward to a better future. During afternoon, invited experts addressed topics that concerned everyone, such as Fabry disease diagnosis and treatment, ERT efficacy, ERT infusion, heart disease response, gene therapy and clinical trials.

Past: Three guests (Mr. Huang Yu, Mr. Wang Yiou and Mr. Zhang Yafei) discussed “those years, those things” about Fabry disease under the guidance of the moderator (Xu Yifan) from the perspectives of medical experts, public welfare organizations and people living with Fabry disease, so that everyone can understand the past of the patient association and also to remind everyone to cherish the present and continue to work to create a better future.

Present: Deng Kunhua, a wife and a mother shared her perspective on living with family members with Fabry disease, how she faced the disease together with her husband and children and actively adjusted her mindset to cope with everyday normal life.

Future: Providing a platform for patients to communicate and discuss with each other is the very important purpose of this patient meeting. Guided by Mr. Chen Qian, a 2-hour interactive discussion took place. It was divided into three chapters: ice-breaking, medication, and how to lead a good life.
During the ice-breaker patients to change from talking as netizens to having in depth face-to-face conversations, from unfamiliar to  familiar, to  ultimately bridge the gap and become more connected.

In the session on medication, Tan, who had just participated in a gene therapy clinical trial, was invited to share his gene therapy experience and feelings. His testimonial brought new hope to everyone and enhanced everyone ‘s confidence in overcoming the disease.

In the session called ‘Good Life’, Ye Jiahao shared the difficulties and challenges encountered in the process of seeking medical advice over the years after his diagnosis in 2015, as well as how he was prepared to give up and how he was feeling desperate. He changed his mindset step by step and finally received ERT treatment through his own efforts and unremitting persistence. He started having a positive outlook on life again with the support and encouragement of the patient association.

Adequate communication makes everyone realize that only by taking the initiative to change, adjusting your mindset  and actively facing the disease, you can find the answers you need to face this journey, chase your dreams and to not let the disease define your live.

During the afternoon, Huang Zhenhui, president of Fabry Patient Association, welcomed all guests, patients and friends from all walks of life to the meeting during his opening speech. He mentioned that he truly hopes that everyone will work together to achieve a better tomorrow.

As the top Fabry expert in China, Professor Chen Nan of Ruijin Hospital presented the evolution of the consensus of Fabry experts in China. He addressed all aspects of  screening, diagnosis, treatment, disease management of Fabry disease and emphasized the importance of multi-disciplinary treatment (MDT) in those areas. Because of Professor Chen Nan ‘s in-depth explanation, more patients and their families learned about the correct coping strategies and disease management methods when facing different symptoms. These topics are of great significance for people living with Fabry disease to improve their quality of life.

Professor Zhang Jingjing from the Second Affiliated Hospital of Anhui Medical University pointed out that through a large number of research data, ERT (enzyme replacement therapy) is the cornerstone of Fabry disease treatment, and the earlier patients receive ERT, the higher the benefit. Addressing this topic allows the majority of patients to further understand the importance of enzyme replacement therapy for Fabry patients and the necessity of early medication, reminding patients to start ERT treatment as soon as possible”.

Chief Nurse Chen Weihong from Ruijin Hospital talked about “precautions during enzyme replacement therapy infusion” and revealed the enzyme replacement therapy infusion process that is not always known by patients. She explained the key points and precautions in the infusion process to the patients for two different drugs, and finally made a meticulous introduction to infusion-related adverse reactions (IARs), as well as drug emergency response plans. This answers the questions of many patients and is essential for improving the patient’ cognition, reducing the risk of infusion, and ensuring drug safety.

Professor Yu Bilian from the Second Xiangya Hospital of Central South University presented the topic “Fabry Heart Disease and Response” in accordance to the group characteristics of high incidence of heart disease in people with Fabry. At the beginning of the presentation, Professor Yu shared a popular science video about the heart that makes it easier to understand the basic structure of the heart and then explained the clinical manifestations and coping methods after cardiac involvement to everyone in depth through the pathogenesis and clinical manifestations of Fabry to help everyone cope with cardiac complications better in the future.

Gene therapy is a hot topic. Professor Huang Yu from the Department of Genetics, Peking University was specifically invited to present on this. Professor Huang Yu explained the history and category of gene therapy in combination with real cases and at the same time shared insights and analyses on the drugs developed by well-known gene companies both nationally and internationally. She shared a detailed interpretation and introduction on the first rAAV gene therapy for the treatment of Fabry disease in China which took place recently. As a bonus, Professor Huang Yu also shared her personal and unique view on how to eliminate rare diseases.

Considering that many new therapies of Fabry disease are currently in clinical trials both nationally and internationally, in order to clear any misunderstandings about clinical trials and to have a more comprehensive understanding of them, Professor Ouyang Yan of Ruijin Hospital Affiliated to Shanghai Jiao Tong University presented the relevant concepts and classifications of clinical trials from the perspective of patients. What the risks and benefits are when participating in clinical trials and what you should pay most attention to as a patient when being recruited to participate. Ouyang Yan also shared an overview of the current ongoing clinical trials as well as new therapies.

At the end of the meeting, Ms. Yu Lei from Sanofi and Ms. Zhang Na from Takeda were invited to express their views on how to practice the concept of “patient-centered” approaches in the work field and working hand in hand with many stakeholders to support early diagnosis and guaranteed access to treatment.

After all that, the 2023 annual conference officially came to an end. After a day of learning and communicating, connections between patients were made and all were encouraged to face the disease, cope with it and to look forward to a better and improved life.