scholarly journals Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Federica Pondrelli ◽  
Lorenzo Muccioli ◽  
Laura Licchetta ◽  
Barbara Mostacci ◽  
Corrado Zenesini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Prognostic Factors ◽  
Meta Analysis ◽  
Publication Date ◽  
Healthy Children ◽  
Individual Participant Data ◽  
Lafora Disease ◽  
Progressive Myoclonus Epilepsy ◽  
Loss Of Autonomy ◽  
Individual Participant

Abstract Background Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe psychomotor deterioration. This work aims to describe the clinical course of LD and identify predictors of outcome by means of a prognostic systematic review with individual participant data meta-analysis. Methods A search was conducted on MEDLINE and Embase with no restrictions on publication date. Only studies reporting genetically confirmed LD cases were included. Kaplan–Meier estimate was used to assess probability of death and loss of autonomy. Univariable and multivariable Cox regression models with mixed effects (clustered survival data) were performed to evaluate prognostic factors. Results Seventy-three papers describing 298 genetically confirmed LD cases were selected. Mean age at disease onset was 13.4 years (SD 3.7), with 9.1% aged ≥ 18 years. Overall survival rates in 272 cases were 93% [95% CI 89–96] at 5 years, 62% [95% CI 54–69] at 10 years and 57% [95% CI 49–65] at 15 years. Median survival time was 11 years. The probability of loss of autonomy in 110 cases was 45% [95% CI 36–55] at 5 years, 75% [95% CI 66–84] at 10 years, and 83% [95% CI 74–90] at 15 years. Median loss of autonomy time was 6 years. Asian origin and age at onset < 18 years emerged as negative prognostic factors, while type of mutated gene and symptoms at onset were not related to survival or disability. Conclusions This study documented that half of patients survived at least 11 years. The notion of actual survival rate and prognostic factors is crucial to design studies on the effectiveness of upcoming new disease-modifying therapies.

scholarly journals NATURAL HISTORY OF LAFORA DISEASE A Prognostic Systematic Review and Individual Participant Data Meta-Analysis.

2021 ◽  
Author(s):  
Federica Pondrelli ◽  
Lorenzo Muccioli ◽  
Laura Licchetta ◽  
Barbara Mostacci ◽  
Corrado Zenesini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Prognostic Factors ◽  
Survival Data ◽  
Meta Analysis ◽  
Disease Onset ◽  
Publication Date ◽  
Individual Participant Data ◽  
Lafora Disease ◽  
Loss Of Autonomy ◽  
Individual Participant

Objective: To describe the clinical course of Lafora Disease (LD) and identify predictors of outcome by means of a prognostic systematic review with individual participant data meta-analysis. Methods: A search was conducted on MEDLINE and Embase with no restrictions on publication date. Only studies reporting genetically confirmed LD cases were included. Kaplan-Meier estimate was used to assess probability of death and of loss of autonomy. Univariable and multivariable Cox regression models with mixed effects (clustered survival data) were performed to evaluate prognostic factors. Results: Seventy-three papers describing 298 genetically confirmed LD cases were selected. Mean age at disease onset was 13.4 years (SD 3.7), with 9.1% aged≥ 18 years. Overall survival rates in 272 cases were 93% [95% CI 89-96] at 5 years, 62% [95% CI 54-69] at 10 years and 57% [95% CI 49-65] at 15 years. Median survival time was 11 years. The probability of loss of autonomy in 110 cases was 45% [95% CI 36-55] at 5 years, 75% [95% CI 66-84] at 10 years, and 83% [95% CI 74-90] at 15 years. Median loss of autonomy time was 6 years. Asian origin and age at onset <18 years emerged as negative prognostic factors, while type of mutated gene and symptoms at onset were not related to survival or disability. Conclusions: This study documented that half of patients survived at least 11 years. The notion of actual survival rate and prognostic factors is crucial to design studies on the effectiveness of upcoming new disease-modifying therapies.

scholarly journals Long working hours and alcohol use: systematic review and meta-analysis of published studies and unpublished individual participant data

BMJ ◽  
2015 ◽  
Vol 350 (jan12 13) ◽  
pp. g7772-g7772 ◽  
Author(s):  
M. Virtanen ◽  
M. Jokela ◽  
S. T. Nyberg ◽  
I. E. H. Madsen ◽  
T. Lallukka ◽  
...  
Keyword(s):  
Systematic Review ◽  
Alcohol Use ◽  
Meta Analysis ◽  
Working Hours ◽  
Individual Participant Data ◽  
Long Working Hours ◽  
Individual Participant

scholarly journals Effects of mechanical interventions in the management of knee osteoarthritis: protocol for an OA Trial Bank systematic review and individual participant data meta-analysis

BMJ Open ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. e043026
Author(s):  
Erin M Macri ◽  
Michael Callaghan ◽  
Marienke van Middelkoop ◽  
Miriam Hattle ◽  
Sita M A Bierma-Zeinstra
Keyword(s):  
Systematic Review ◽  
Knee Osteoarthritis ◽  
Broad Class ◽  
Meta Analysis ◽  
Individual Participant Data ◽  
Knee Oa ◽  
International Regulations ◽  
Individual Participant ◽  
Registration Number ◽  
Mechanical Intervention

IntroductionKnee osteoarthritis (OA) is a prevalent and disabling musculoskeletal condition. Biomechanical factors may play a key role in the aetiology of knee OA, therefore, a broad class of interventions involves the application or wear of devices designed to mechanically support knees with OA. These include gait aids, bracing, taping, orthotics and footwear. The literature regarding efficacy of mechanical interventions has been conflicting or inconclusive, and this may be because certain subgroups with knee OA respond better to mechanical interventions. Our primary aim is to identify subgroups with knee OA who respond favourably to mechanical interventions.Methods and analysisWe will conduct a systematic review to identify randomised clinical trials of any mechanical intervention for the treatment of knee OA. We will invite lead authors of eligible studies to share individual participant data (IPD). We will perform an IPD meta-analysis for each type of mechanical intervention to evaluate efficacy, with our main outcome being pain. Where IPD are not available, this will be achieved using aggregate data. We will then evaluate five potential treatment effect modifiers using a two-stage approach. If data permit, we will also evaluate whether biomechanics mediate the effects of mechanical interventions on pain in knee OA.Ethics and disseminationNo new data will be collected in this study. We will adhere to institutional, national and international regulations regarding the secure and confidential sharing of IPD, addressing ethics as indicated. We will disseminate findings via international conferences, open-source publication in peer-reviewed journals and summaries posted on websites serving the public and clinicians.PROSPERO registration numberCRD42020155466.

scholarly journals Diagnostic accuracy of the Geriatric Depression Scale-30, Geriatric Depression Scale-15, Geriatric Depression Scale-5 and Geriatric Depression Scale-4 for detecting major depression: protocol for a systematic review and individual participant data meta-analysis

BMJ Open ◽  
2018 ◽  
Vol 8 (12) ◽  
pp. e026598 ◽  
Author(s):  
Andrea Benedetti ◽  
Yin Wu ◽  
Brooke Levis ◽  
Machelle Wilchesky ◽  
Jill Boruff ◽  
...  
Keyword(s):  
Systematic Review ◽  
Major Depression ◽  
Diagnostic Accuracy ◽  
Meta Analysis ◽  
Geriatric Depression Scale ◽  
Depression Scale ◽  
Individual Participant Data ◽  
Geriatric Depression ◽  
Subgroup Analyses ◽  
Individual Participant

IntroductionThe 30-item Geriatric Depression Scale (GDS-30) and the shorter GDS-15, GDS-5 and GDS-4 are recommended as depression screening tools for elderly individuals. Existing meta-analyses on the diagnostic accuracy of the GDS have not been able to conduct subgroup analyses, have included patients already identified as depressed who would not be screened in practice and have not accounted for possible bias due to selective reporting of results from only better-performing cut-offs in primary studies. Individual participant data meta-analysis (IPDMA), which involves a standard systematic review, then a synthesis of individual participant data, rather than summary results, could address these limitations. The objective of our IPDMA is to generate accuracy estimates to detect major depression for all possible cut-offs of each version of the GDS among studies using different reference standards, separately and among participant subgroups based on age, sex, dementia diagnosis and care settings. In addition, we will use a modelling approach to generate individual participant probabilities for major depression based on GDS scores (rather than a dichotomous cut-off) and participant characteristics (eg, sex, age, dementia status, care setting).Methods and analysisIndividual participant data comparing GDS scores to a major depression diagnosis based on a validated structured or semistructured diagnostic interview will be sought via a systematic review. Data sources will include Medline, Medline In-Process & Other Non-Indexed Citations, PsycINFO and Web of Science. Bivariate random-effects models will be used to estimate diagnostic accuracy parameters for each cut-off of the different versions of the GDS. Prespecified subgroup analyses will be conducted. Risk of bias will be assessed with the Quality Assessment of Diagnostic Accuracy Studies-2 tool.Ethics and disseminationThe findings of this study will be of interest to stakeholders involved in research, clinical practice and policy.PROSPERO registration numberCRD42018104329.

Sign in / Sign up

Export Citation Format

Share Document