Core Viewpoint - The article emphasizes the importance of awareness and management of Duchenne Muscular Dystrophy (DMD), highlighting the need for improved treatment options and support for affected families [1][2][4]. Group 1: Disease Overview - DMD is a severe muscle degeneration disease caused by X-linked recessive inheritance, primarily affecting males, with an estimated prevalence of 1 in 5,000 newborn boys globally [2]. - There are approximately 250,000 DMD patients worldwide, with around 70,000 in China, making it one of the countries with the highest number of DMD patients [2]. Group 2: Disease Progression and Management - DMD progresses through five stages based on age and mobility, with a median age of death in China at approximately 18.57 years, while current standard treatments extend median survival to 28.7 years, an increase of over 10 years compared to untreated patients [3]. - Multidisciplinary management can delay disease progression and improve quality of life, with standardized treatment showing survival rates between 24.8 and 27.9 years [3]. Group 3: Treatment Challenges - The standard treatment adherence rate for DMD patients is only 23%, with a lack of specialized medical resources leading to inadequate treatment and management [7]. - Long-term use of traditional corticosteroids can result in adverse effects, prompting a demand for better, less harmful treatment options [7]. Group 4: New Developments - The approval of the first DMD-specific drug, Vamorolone, in December 2024 marks a significant advancement in treatment options, transitioning patients from having no available treatments to a new era of standardized care [7]. - Over 40 clinical research projects for DMD treatments are currently underway globally, indicating a promising future for patient longevity [7]. Group 5: Financial and Policy Concerns - High drug prices and insufficient insurance coverage pose significant barriers for DMD families, with over 70% of families spending more than 60% of their income on medical expenses [8]. - Calls for improved insurance coverage and legislative support for rare diseases are emphasized to ensure better access to treatment for patients [8]. Group 6: Community Engagement - The DMD Annual Summit and empowerment training aim to raise awareness and provide resources for patients and families, encouraging community involvement in DMD advocacy [9].

Core Insights - Duchenne Muscular Dystrophy (DMD) affects approximately 70,000 patients in China, with a prevalence of 1 in every 5,000 newborn boys [1][2] - The standard treatment with corticosteroids can extend median survival by over 10 years, yet only 23% of patients in China receive this treatment [1][6] - The approval of Vamorolone, the first innovative corticosteroid for DMD in China, marks a significant advancement in treatment options [1][7] Patient Statistics - DMD is a genetic disorder caused by mutations in the DMD gene, leading to progressive muscle degeneration and associated complications [2] - Globally, there are about 250,000 DMD patients, with China having one of the highest numbers [2] - Approximately 30% of DMD cases are due to gene mutations, while around 70% of affected children have carrier mothers [2] Treatment Landscape - The current corticosteroid treatment rate in China has increased from 26.3% in 2015 to 54% in 2020, but nearly half of the patients have never used medication [6] - The lack of treatment is partly due to the absence of approved drugs, with Deflazacort only available through temporary importation [6][7] - Vamorolone, approved in December 2022, is expected to participate in national health insurance negotiations after passing the basic directory review [7] Gene Therapy Developments - Gene therapy is emerging as a significant area in DMD drug development, with various drugs approved globally, but only one gene therapy product has been approved [8][9] - Elevidys, a gene therapy drug, was approved by the FDA for DMD patients aged 4-5 years, but its high cost and associated controversies have raised concerns [9] - BBM-D101, a domestic gene therapy candidate, has received IND approval and is currently in clinical trials [9]

新京报讯(记者戴轩)杜氏肌营养不良症(DMD)治疗领域迎来进展。今日(7月22日)，创新治疗药物伐莫洛 龙在首都医科大学附属北京儿童医院神经内科实现临床应用，这是该药物自获批进入中国市场后，在全 国医疗机构内开出的首张处方。 患儿悠悠在4岁时确诊DMD，之后通过服用泼尼松、地夫可特等糖皮质激素药物，开展运动康复进行治 疗。熊晖介绍，DMD患儿要长期服用激素，面临骨质疏松、不长个儿等副作用。伐莫洛龙拥有抗炎作 用，但副作用比糖皮质激素小，可以降低对于儿童生长发育方面的负面影响。 伐莫洛龙口服混悬于2024年12月获得国家药品监督管理局批准，用于治疗四岁及以上的DMD患者。 DMD在男性中完全外显，主要表现为进行性、对称性肌无力，近端重于远端。患儿通常表现为走路 晚，易摔倒，走路慢，到3岁左右步态异常开始变得明显；开始时运动发育仍不断进步，但逐渐表现出 爬楼、跑、跳和起立等行动的困难，并逐渐出现腰前凸、双侧腓肠肌假性肥大等体征，4-5岁过了平台 期之后，运动能力开始倒退，10-12岁丧失独立行走能力，需借助轮椅行动，往往在30岁前因呼吸系统 并发症或心力衰竭而死亡。 今年9岁的悠悠在5年前确诊DMD，之后一直通过 ...