How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?

Batcho, Charles Sèbiyo; Bergh, Peter Van den; Damme, Philip Van; Roy, Anna J.; Thonnard, Jean-Louis; Penta, Massimo

doi:10.1016/j.nmd.2015.12.004

Cited by 16 publications

(19 citation statements)

References 27 publications

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“…The ACTIVLIM is a rating scale with documented high sensitivity in many neuromuscular conditions. 16,26 We have shown that this holds true for the dysferlinopathy population, who show changes in score across all levels of function. A very small number of patients reported an improvement in the ability to perform tasks of daily living.…”

Section: Discussionmentioning

confidence: 75%

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Assessment of disease progression in dysferlinopathy

Moore¹,

Jacobs²,

James³

et al. 2019

Neurology

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ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne 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.ResultsThe 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.ConclusionCertain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials.ClinicalTrials.gov identifier:NCT01676077.

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Section: Discussionmentioning

confidence: 75%

“…The ACTIVLIM questionnaire, a Rasch-built patient-reported outcome measure, 16 was used to capture patient-reported functional ability. The total score, out of a maximum of 36, was compared between visits.…”

Section: Methodsmentioning

confidence: 99%

Assessment of disease progression in dysferlinopathy

Moore¹,

Jacobs²,

James³

et al. 2019

Neurology

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“…We gathered the following patient data: gender, current age, age at onset, symptoms at onset, current disease stage, gene mutations, age at start of ERT, (non)-invasive ventilation and start-up age, serum creatine kinase (CK) (normal value for males < 190 U/l, females < 174 U/l), brain imaging either computed tomography (CT) including CT-angiography or magnetic resonance imaging (MRI) including MR-angiography. Furthermore, we studied the following functional data in the period between 2010 and 2017: forced vital capacity (FVC) in sitting and supine position (percentage of the predicted normal value), 6-min walk distance (6MWD), 10-m walk test (10MWT), Medical Research Council (MRC) sum score (shoulder abduction, elbow flexion, elbow extension, hip flexion, knee extension and knee flexion on both sides; each muscle group is scored between 0 and 5, maximum total score is 60), and the ActivLim (acronym of "ACTIVity LIMitations") questionnaire [11][12][13] . The latter comprises 22 daily activities to be rated by the patients as impossible, difficult or easy.…”

Section: Lopd Patientsmentioning

confidence: 99%

“…Vandervelde et al [12] showed that in several other neuromuscular diseases, such as Duchenne muscular dystrophy, other muscular dystrophies and Charcot-Marie-Tooth neuropathy, the ActivLim score was possibly even more sensitive than patients' selfperception to report change in functional status (overall better, stable or worse). In Batcho et al [13], the Activ-Lim score (analysed with the rating scale Rasch model) was validated in a more heterogeneous group of neuromuscular disorders in the longitudinal monitoring of functional status. However, these two studies did not include patients with LOPD.…”

Section: Cerebral (Vascular) Abnormalities In Lopdmentioning

confidence: 99%

“…Here, we studied the clinical, brain imaging, and genetic features of the Belgian cohort of LOPD patients (N = 52), and the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017). One of the outcome measures was the activity limitations measure ActivLim [11][12][13], which has been evaluated previously in several other neuromuscular disorders, but not specifically in Pompe disease.…”

Section: Introductionmentioning

confidence: 99%

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Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

Vanherpe

Fieuws

D’Hondt

et al. 2020

Orphanet J Rare Dis

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Background: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). Methods: We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. Results: In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05). Conclusions: Awareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.

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Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

Wel

Schaepdryver

Poesen

et al. 2022

Ann Clin Transl Neurol

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Objective To investigate biomarkers of disease progression in cerebrospinal fluid (CSF) and serum in adult patients with spinal muscular atrophy (SMA). Furthermore, we assess the clinical response to nusinersen treatment in adults with SMA over a longer follow‐up period than the previously reported 6–14 months. Methods We included 16 adults with SMA type 3–4 for nusinersen treatment over 22 months in this prospective study. We evaluated chitotriosidase‐1 (CHIT1) and chitinase‐3‐like protein 1 (YKL‐40) as neuroinflammatory biomarkers in CSF, and neurofilament light chain (NfL) and heavy chain (pNfH) as neurodegenerative markers in CSF and serum at baseline, month 6, 14 and 22, together with a wide range of clinical outcome measures. Results Levels of CHIT1 increased significantly (p = 0.048) throughout the 22‐month treatment period and pNfH decreased significantly (p = 0.022) in CSF, but both did not correlate with clinical outcome measures. YKL‐40 correlated strongly with neurofilaments in CSF (rho = 0.76) and decreased significantly (p = 0.037) in patients with improvements in the revised upper limb module (RULM). Finally, patients showed significant improvements in hand grip strength, hand motor function, medical research council (MRC) sum score, and peak expiratory flow (PEF) after 22 months of treatment. Interpretation YKL‐40 in CSF correlated with clinical improvements during nusinersen treatment. In contrast, CHIT1 and pNfH in CSF changed significantly during treatment but did not correlate with clinical outcomes. Finally, we demonstrated a sustained clinical effect of nusinersen treatment in adults after 22 months.

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How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?

Cited by 16 publications

References 27 publications

Assessment of disease progression in dysferlinopathy

Assessment of disease progression in dysferlinopathy

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

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