| Title: |
Natural history of infantile‐onset spinal muscular atrophy |
| Authors: |
Kolb, Stephen J; Coffey, Christopher S; Yankey, Jon W; Krosschell, Kristin; Arnold, W David; Rutkove, Seward B; Swoboda, Kathryn J; Reyna, Sandra P; Sakonju, Ai; Darras, Basil T; Shell, Richard; Kuntz, Nancy; Castro, Diana; Parsons, Julie; Connolly, Anne M; Chiriboga, Claudia A; McDonald, Craig; Burnette, W Bryan; Werner, Klaus; Thangarajh, Mathula; Shieh, Perry B; Finanger, Erika; Cudkowicz, Merit E; McGovern, Michelle M; McNeil, D Elizabeth; Finkel, Richard; Iannaccone, Susan T; Kaye, Edward; Kingsley, Allison; Renusch, Samantha R; McGovern, Vicki L; Wang, Xueqian; Zaworski, Phillip G; Prior, Thomas W; Burghes, Arthur HM; Bartlett, Amy; Kissel, John T; Investigators, the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker |
| Source: |
Annals of Neurology, vol 82, iss 6 |
| Publisher Information: |
eScholarship, University of California |
| Publication Year: |
2017 |
| Collection: |
University of California: eScholarship |
| Subject Terms: |
3213 Paediatrics (for-2020); 32 Biomedical and Clinical Sciences (for-2020); Pediatric (rcdc); Minority Health (rcdc); Clinical Research (rcdc); Clinical Trials and Supportive Activities (rcdc); Rare Diseases (rcdc); Neurosciences (rcdc); Health Disparities (rcdc); Neurodegenerative (rcdc); Spinal Muscular Atrophy (rcdc); 4.1 Discovery and preclinical testing of markers and technologies (hrcs-rac); Neurological (hrcs-hc); 3 Good Health and Well Being (sdg); Biomarkers (mesh); Child; Preschool (mesh); Cohort Studies (mesh); Female (mesh); Humans (mesh); Infant (mesh); Longitudinal Studies (mesh); Male (mesh); Prospective Studies (mesh); Spinal Muscular Atrophies of Childhood (mesh); Survival of Motor Neuron 1 Protein (mesh); Survival of Motor Neuron 2 Protein (mesh); NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators |
| Subject Geographic: |
883 - 891 |
| Description: |
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants and 27 control infants aged |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
qt1ch04965; https://escholarship.org/uc/item/1ch04965; https://escholarship.org/content/qt1ch04965/qt1ch04965.pdf |
| DOI: |
10.1002/ana.25101 |
| Availability: |
https://escholarship.org/uc/item/1ch04965; https://escholarship.org/content/qt1ch04965/qt1ch04965.pdf; https://doi.org/10.1002/ana.25101 |
| Rights: |
public |
| Accession Number: |
edsbas.1F15B276 |
| Database: |
BASE |