SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

被引：15
作者：
Kayadjanian, Nathalie [1 ]
Burghes, Arthur [2 ]
Finkel, Richard S. [3 ]
Mercuri, Eugenio [4 ]
Rouault, Francoise [5 ]
Schwersenz, Inge [6 ]
Talbot, Kevin [7 ]
机构：
[1] TransBioMed Solut LLC, Murray Hill, NJ USA
[2] Ohio State Univ, Coll Med, Columbus, OH 43210 USA
[3] Nemours Childrens Hosp, Orlando, FL USA
[4] Univ Cattolica Sacro Cuore, Pediat Neurol Unit, I-00168 Rome, Italy
[5] Assoc Francaise Myopathies, Evry, France
[6] SMA EUROPE, Freiburg, Germany
[7] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England
来源：
ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷
关键词：
Spinal muscular atrophy; Clinical trials; Preclinical drug selection; Phase III trial planning; Patient registries; Neonatal trials; Newborn screening; Standards of care; European regulations; Efficacy biomarkers; NATURAL-HISTORY; AGE;
D O I：
10.1186/1750-1172-8-44
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into effective therapies is hampered by major roadblocks in clinical trials, including the complex regulatory environment in Europe, variations in standards of care, patient ascertainment and enrolment, a narrow therapeutic window and a lack of biomarkers of efficacy. In this context, SMA-Europe organized its first international workshop in July 2012 in Rome, gathering 34 scientists, clinicians and representatives of patient organizations to establish recommendations for improving clinical trials for SMA(a).
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