RT Journal Article
T1 Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
A1 Jacobs, Marni B
A1 James, Meredoith K
A1 Lowes, Linda P
A1 Alfano, Lindsay N
A1 Eagle, Michelle
A1 Muni-Lofra, Robert
A1 Moore, Ursula
A1 Feng, Jia
A1 Rufibach, Laura E
A1 Rose, Kristy
A1 Duong, Tina
A1 Bello, Luca
A1 Pedrosa-Hernandez, Irene
A1 Holsten, Scott
A1 Sakamoto, Chikako
A1 Canal, Aurelie
A1 Sanchez-Aguilera-Praxedes, Nieves
A1 Thiele, Simone
A1 Siener, Catherine
A1 Vandevelde, Bruno
A1 DeWolf, Brittney
A1 Maron, Elke
A1 Guglieri, Michela
A1 Hogrel, Jean-Yves
A1 Blamire, Andrew M
A1 Carlier, Pierre G
A1 Spuler, Simone
A1 Day, John W
A1 Jones, Kristi J
A1 Bharucha-Goebel, Diana X
A1 Salort-Campana, Emmanuelle
A1 Pestronk, Alan
A1 Walter, Maggie C
A1 Paradas, Carmen
A1 Stojkovic, Tanya
A1 Mori-Yoshimura, Madoka
A1 Bravver, Elena
A1 Diaz-Manera, Jordi
A1 Pegoraro, Elena
A1 Mendell, Jerry R
A1 Mayhew, Anna G
A1 Straub, Volker
K1 Adolescent
K1 Aged
K1 Clinical Trials as Topic
K1 Female
K1 Male
K1 Psychometrics
AB Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD. We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories. The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline. The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967-978.
PB John Wiley & Sons, Inc.
YR 2021
FD 2021-04-16
LK http://hdl.handle.net/10668/17164
UL http://hdl.handle.net/10668/17164
LA en
NO Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Muni Lofra R, et al. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. Ann Neurol. 2021 May;89(5):967-978.
DS RISalud
RD Apr 18, 2025