Perseverance in Rare Diseases at Sanofi
Perseverance in Rare Diseases at Sanofi
概括
There are 7,000 known rare diseases in the world that collectively affect 350 million patients. For these patients and their families, the journey can be long and challenging.
Sanofi has pledged to help improve the care, the health and the lives of people affected by a rare disease for nearly 40 years. Even when a therapy has been proven to work, Sanofi continues to find ways to do more to advance patient care and improve quality of life. Its approach is simple and rooted in perseverance–one family at a time.
每个患有罕见疾病的人都有不同的经验，有时甚至在截然不同的需求中。症状和并发症可能会很困难，甚至危及生命，如果有的话，可用的治疗方案很少。
“从历史上看，赛诺菲一直是为罕见疾病的人提供治疗方法的开拓者，但现在宣布在与这些疾病的斗争中获胜还为时过早。对我们来说，这场战斗既是马拉松又是一场冲刺。”赛诺菲全球研发总监约翰·里德（John Reed）说。“我们必须专注于开发下一代潜在治疗，同时研究目前不存在治疗方案的罕见疾病的疗法。患者激励我们坚持不懈地努力。”
寻找治疗酸性鞘磷脂酶缺乏症（ASMD）
ASMD是一种罕见，进行性且潜在的威胁生命的溶酶体储存障碍（LSD），它是由于酶酸鞘氨酸酶（ASM）的缺乏活性所致。该酶通常在称为溶酶体的细胞内特殊区室中发现，并且需要分解脂质（细胞中的脂肪物质）被称为鞘磷脂。如果ASM缺乏或不应有的功能，则不能正确地代谢鞘磷脂并积聚在细胞内，最终导致细胞死亡和主要器官系统的故障。
While there are currently no treatments available for patients living with ASMD, Sanofi scientists continue to leverage their expertise in LSDs to find one. Patients like J.J., who are living with these difficult conditions, inspire our work in the lab and beyond.
Investigating next-generation therapies
The first ten years of Sanofi’s research in rare diseases focused primarily on finding a treatment for one type of LSD called Gaucher disease. Its success established Sanofi’s leadership in the rare disease community. Over the next two decades, the company expanded its focus to include other LSDs including Fabry disease, Pompe disease, and Mucopolysaccharidosis I (MPS I).
但是，一旦发现治疗就不会停止。
“We don’t retire with success. Instead we ask ourselves how we can do more,” said Sebastien Martel, Global Head of Rare Diseases. “Our perserverance is exemplified by our exploration of potential next-generation therapies for Pompe, Gaucher and Fabry. We are constantly challenging the status quo by asking how we can best support the needs of patients with medicine and beyond.”
Providing support beyond treatment
患有罕见疾病的生活可能是孤立和孤独的，因此，通过将他们及其家人彼此联系并倡导组织来支持每个患者同样重要。
“As we develop potential new therapeutic options for people living with rare diseases, the role of patient advocacy organizations is core to our mission and crucial to our success. From imparting their expertise and sharing their experiences to shaping and participating in clinical trials, the patient advocacy community’s contribution to our work is invaluable,” said Pamela Graves-Moore, Global Head of Public Affairs and Patient Advocacy for Rare Diseases at Sanofi. “We are grateful for the rare disease patient community’s contributions, trust and cooperation.”
创建一个支持的姐妹情谊was always an important way of coping for sisters Christy, Heather, Michelle and Tami, who face the challenges of living with Fabry disease. “We could see the impact of Fabry disease on our father and uncles, and we were able to share information and support with each other–and that made a tremendous difference,” said Christy.
Her sister Tami adds, “You learn very quickly that Fabry disease affects every part of your life. Whether it is being a wife or mother or having a career, there are certainly days when I feel like I dropped the ball.”
Sanofi believes in the power of supporting health from the molecular level to emotional and social wellness. With approximately 350 million people living with a rare disease across the globe, this task can seem daunting. Sanofi’s approach is simple—one patient at a time; one family connected to necessary resources; one physician educated; one advocacy organization supported; and one legislator informed.
