通过当前和预期的疾病改善治疗,包括基因疗法,Duchenne型肌营养不良症(DMD)的早期诊断对于确保最大获益至关重要.2009年,一项来自肌营养不良监测的研究,追踪,研究网络(MDSTARnet)显示,1982年1月1日至2000年12月31日出生的DMD男性的平均诊断年龄为5岁。美国疾病控制和预防中心(CDC)和患者组织实施了一些举措,以减少诊断时间。我们在2000年1月1日之后出生的监测队列中进行了随访研究,以确定诊断时间是否有所改善。
我们使用六个美国MDSTARnet监测点(科罗拉多州,爱荷华州,纽约州西部,北卡罗莱纳州的皮埃蒙特地区,南卡罗来纳州,和犹他州)。分析队列包括221例明确或可能诊断为DMD的男性,没有家族史。我们计算了分类变量的频率计数和百分比,意思是,中位数,和连续变量的标准偏差(SD)。
以年为单位的诊断里程碑的平均[中位数]年龄是:最初的迹象,2.7[2.0];第一肌酸激酶(CK),4.6[4.6];DNA/肌肉活检测试,4.9[4.8];以及从最初迹象到诊断确认的时间,2.2[1.4].
DMD的最初体征和诊断之间的时间间隔保持不变,为2.2年。这导致失去了及时遗传咨询的机会,实施护理标准,开始糖皮质激素,参与临床试验。
With current and anticipated disease-modifying treatments, including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009, a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) showed an average diagnosis age of 5 years among males with DMD born from January 1, 1982 to December 31, 2000. Initiatives were implemented by the US Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow-up study in a surveillance cohort born after January 1, 2000 to determine whether there has been an improvement in time to diagnosis.
We assessed the age of diagnosis among males with DMD born from January 1, 2000 to December 31, 2015 using data collected by six US MD STARnet surveillance sites (Colorado, Iowa, western New York State, the Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency count and percentage for categorical variables, and mean, median, and standard deviation (SD) for continuous variables.
The mean [median] ages in years of diagnostic milestones were: first signs, 2.7 [2.0]; first creatine kinase (CK), 4.6 [4.6]; DNA/muscle biopsy testing, 4.9 [4.8]; and time from first signs to diagnostic confirmation, 2.2 [1.4].
The time interval between first signs of DMD and diagnosis remains unchanged at 2.2 years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids, and participation in clinical trials.