RT Journal Article
T1 Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
A1 Moore, Ursula
A1 Jacobs, Marni
A1 James, Meredith K
A1 Mayhew, Anna G
A1 Fernandez-Torron, Roberto
A1 Feng, Jia
A1 Cnaan, Avital
A1 Eagle, Michelle
A1 Bettinson, Karen
A1 Rufibach, Laura E
A1 Lofra, Robert Muni
A1 Blamire, Andrew M
A1 Carlier, Pierre G
A1 Mittal, Plavi
A1 Lowes, Linda Pax
A1 Alfano, Lindsay
A1 Rose, Kristy
A1 Duong, Tina
A1 Berry, Katherine M
A1 Montiel-Morillo, Elena
A1 Pedrosa-Hernandez, Irene
A1 Holsten, Scott
A1 Sanjak, Mohammed
A1 Ashida, Ai
A1 Sakamoto, Chikako
A1 Tateishi, Takayuki
A1 Yajima, Hiroyuki
A1 Canal, Aurelie
A1 Ollivier, Gwenn
A1 Decostre, Valerie
A1 Mendez, Juan Bosco
A1 Sanchez-Aguilera-Praxedes, Nieves
A1 Thiele, Simone
A1 Siener, Catherine
A1 Shierbecker, Jeanine
A1 Florence, Julaine M
A1 Vandevelde, Bruno
A1 DeWolf, Brittney
A1 Hutchence, Meghan
A1 Gee, Richard
A1 Prügel, Juliana
A1 Maron, Elke
A1 Hilsden, Heather
A1 Lochmüller, Hanns
A1 Grieben, Ulrike
A1 Spuler, Simone
A1 Tesi Rocha, Carolina
A1 Day, John W
A1 Jones, Kristi J
A1 Bharucha-Goebel, Diana X
A1 Salort-Campana, Emmanuelle
A1 Harms, Matthew
A1 Pestronk, Alan
A1 Krause, Sabine
A1 Schreiber-Katz, Olivia
A1 Walter, Maggie C
A1 Paradas, Carmen
A1 Hogrel, Jean-Yves
A1 Stojkovic, Tanya
A1 Takeda, Shin'ichi
A1 Mori-Yoshimura, Madoka
A1 Bravver, Elena
A1 Sparks, Susan
A1 Diaz-Manera, Jordi
A1 Bello, Luca
A1 Semplicini, Claudio
A1 Pegoraro, Elena
A1 Mendell, Jerry R
A1 Bushby, Kate
A1 Straub, Volker
K1 Humans
K1 Walk Test
K1 Outcome Assessment, Health Care
K1 Muscles
AB To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis. The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint. Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials. NCT01676077.
PB Wolters Kluwer Health
YR 2019
FD 2019-01-09
LK http://hdl.handle.net/10668/13402
UL http://hdl.handle.net/10668/13402
LA en
NO Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, et al. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology. 2019 Jan 28;92(5):e461-e474.
DS RISalud
RD Apr 18, 2025