Pullen Lara C, Bott Nick, McCanless Cate, Revana Amee, Sevinc Gunes, Gorman Casey, Duncan Alexandra, Poliquin Sarah, Pfalzer Anna C, Schmidt Katie Q, Wassman E Robert, Chapman Chère, Picone Maria
Chion Foundation, Oak Park, IL 60304, USA.
Takeda Pharmaceuticals, Cambridge, MA 02139, USA.
Clocks Sleep. 2024 Nov 5;6(4):656-667. doi: 10.3390/clockssleep6040044.
The need for sleep is universal, and the ability to meet this need impacts the quality of life for patients, families, and caregivers. Although substantial progress has been made in treating rare diseases, many patients have unmet medical sleep needs, and current regulatory policy makes it prohibitively difficult to address those needs medically. This opinion reviews the rare disease experience with sleep disorders and explores potential solutions. First, we provide case profiles for the rare diseases Wilson's Disease, Angelman Syndrome, and Prader-Willi Syndrome. These profiles highlight challenges in rare disease diagnosis and barriers to pinpointing disease pathophysiology, including biomarkers that intersect with sleep disorders. Second, we transition to a bird's eye view of sleep disorders and rare diseases by reporting input from a stakeholder discussion with the U.S. Food and Drug Administration regarding abnormal sleep patterns in various rare diseases. Last, in response to the profound unmet medical needs of patients with rare diseases and sleep disorders, we propose adapting and using the clinical trial design known as a "basket trial". In this case, a basket trial would include patients with different rare diseases but the same debilitating symptoms. This research approach has the potential to benefit many rare disease patients who are otherwise left with profound unmet medical needs.
对睡眠的需求是普遍存在的，满足这一需求的能力会影响患者、家庭和护理人员的生活质量。尽管在治疗罕见病方面已经取得了重大进展，但许多患者的医疗睡眠需求仍未得到满足，而且当前的监管政策使得从医学角度解决这些需求变得极其困难。本观点综述了罕见病患者睡眠障碍的情况，并探讨了潜在的解决方案。首先，我们提供了威尔逊氏病、天使综合征和普拉德-威利综合征这几种罕见病的病例概况。这些概况突出了罕见病诊断中的挑战以及确定疾病病理生理学的障碍，包括与睡眠障碍相关的生物标志物。其次，我们通过报告与美国食品药品监督管理局就各种罕见病异常睡眠模式进行的利益相关者讨论的意见，对睡眠障碍和罕见病进行了宏观审视。最后，针对患有罕见病和睡眠障碍的患者存在的大量未满足的医疗需求，我们建议采用并运用一种名为“篮子试验”的临床试验设计。在这种情况下，篮子试验将包括患有不同罕见病但有相同衰弱症状的患者。这种研究方法有可能使许多原本医疗需求未得到充分满足的罕见病患者受益。
