Correction: Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis.

[This corrects the article DOI: 10.1371/journal.pone.

Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.

Purpose: Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy.

Methods: Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry.

Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.

Objective: The objective of this study was to describe predictors of loss of ambulation in Duchenne muscular dystrophy (DMD).

Methods: This systematic review and meta-analysis included searches of MEDLINE ALL, Embase, and the Cochrane Database of Systematic Reviews from January 1, 2000, to December 31, 2022, for predictors of loss of ambulation in DMD. Search terms included "Duchenne muscular dystrophy" as a Medical Subject Heading or free text term, in combination with variations of the term "predictor".

Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence.

Background And Objectives: Bisphosphonates are routinely used to treat osteoporosis in patients with Duchenne muscular dystrophy (DMD), a rare, severely debilitating neuromuscular disease. We sought to synthesize and grade benefits and harms evidence of bisphosphonates in glucocorticoid-treated patients with DMD.

Methods: In this systematic review (PROSPERO identifier: CRD42020157606), we searched MEDLINE, CINAHL, Embase, PsycINFO, Web of Science, and CENTRAL for articles published from inception up to and including March 31, 2023, reporting results in any language from any study type.

Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.

Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness.

Objectives: The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA.

Methods: Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.

Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading.

Background: Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and adults with Duchenne muscular dystrophy (DMD).

Objective: The objective of this systematic literature review was to synthesize and grade published evidence of factors associated with respiratory health and function in DMD.

Methods: We searched MEDLINE, Embase, and the Cochrane Library for records of studies published from January 1, 2000 (to ensure relevance to current care practices), up until and including December 31, 2022, reporting evidence of prognostic indicators and predictors of disease progression in DMD.

Health-related quality of life of children with spinal muscular atrophy in Sweden: A prospective cohort study in the era of disease-modifying therapy.

The objective of this study was to estimate change over time in health-related quality of life (HRQoL) of children with spinal muscular atrophy (SMA) in Sweden. Children with SMA were identified via the National Patient Register by the National Board of Health and Welfare in Sweden. Patient HRQoL was caregiver proxy-assessed using the Pediatric Quality of Life Inventory 4.

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

Background: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a broad range of ages, including adults.

Methods: Demographic, clinical and healthcare resource use data were collected from medical records of achondroplasia patients enrolled in 13 sites across six European countries in this retrospective, observational study.

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.

Background: Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany.

Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.

Objective: The objective of our study was to review, synthesize, and grade published evidence of caregiver burden of spinal muscular atrophy (SMA), a rare autosomal-recessive neuromuscular disease.

Methods: We searched Embase and PubMed for full-text articles published from inception up until 28 February, 2022, reporting results from studies of caregiver burden (i.e.

Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives.

Highly efficacious, potentially curative gene therapies holds immense clinical promise, but also present complex challenges. At the time of regulatory approval and health technology assessment (HTA), evidence of efficacy and safety of gene therapies is often uncertain. In addition, research, development, and manufacturing costs, small pools of eligible patients, and the fact that many gene therapies are administered only once means that they frequently are associated with very high "one-off" price points.

Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.

Objective: The objective of this study was to assess the face validity of a disease model evaluating the cost-effectiveness of ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).

Methods: This was a Delphi panel study comprising of physicians with first-hand experience of ataluren for the treatment of nmDMD. Consensus was sought for previously unvalidated model data, including patient health status and quality of life measured using the Health Utility Index (HUI), mortality, informal caregiving, and the expected benefit of early ataluren treatment across four states: (1) ambulatory, (2) non-ambulatory, not yet requiring ventilation support, (3) non-ambulatory, night-time ventilation support, and (4) non-ambulatory, full-time ventilation support.

Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence.

Background: Clinical medical management guidelines of Duchenne muscular dystrophy (DMD) emphasize prevention and early identification and treatment.

Objective: The objective of our study was to review, synthesize, and grade published evidence of the impact of the timing of clinical interventions in DMD.

Methods: We searched PubMed, Embase, and the Cochrane Library for records published from inception up until November 19, 2021, reporting evidence of the impact of the timing of clinical interventions in DMD.

Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy.

Objectives: The objective of this study was to examine the psychometric properties of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL 4.0 GCS) in Duchenne muscular dystrophy (DMD), a rare, severely debilitating, and ultimately fatal neuromuscular disease.

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.

Objectives: The objective of our study was to conduct a systematic literature review of estimates of costs of illness of spinal muscular atrophy (SMA).

Methods: We searched MEDLINE (through PubMed), CINAHL, Embase, Web of Science, National Health Service Economic Evaluation Database, and the National Health Service Health Technology Assessment Database for studies published from inception up until 31 August, 2020, reporting direct medical, direct non-medical, and/or indirect costs of any phenotype of SMA. Two reviewers independently screened records for eligibility, extracted the data, and assessed studies for risk of bias using the Newcastle-Ottawa Scale.

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1.

Objective: The objective of this longitudinal, observational study was to investigate change over time in ability to perform activities of daily living in myotonic dystrophy type 1 (DM1).

Methods: Adults with genetically confirmed DM1 were recruited as part of the PhenoDM1 study in the UK. Data on activities of daily living were recorded through the DM1-Activ at baseline and a follow-up visit after 12 (± 3) months.

Economic Costs of Myasthenia Gravis: A Systematic Review.

Objectives: The objective of our study was to conduct a systematic literature review of economic costs (henceforth costs) associated with myasthenia gravis (MG).

Methods: We searched MEDLINE (through PubMed), CINAHL, Embase, PsycINFO, and Web of Science for studies reporting costs of MG published from inception up until March 18, 2020, without language restrictions. Two reviewers independently screened records for eligibility, extracted the data, and assessed included studies for risk of bias using the Newcastle-Ottawa Scale.

Stated preferences for relapsed or refractory mantle cell lymphoma treatments in Sweden and Germany.

We aimed to elicit treatment preferences in relapsed/refractory mantle cell lymphoma (r/r MCL). A discrete-choice experiment comprising six attributes ('overall survival', 'progression-free survival', 'fatigue', 'nausea', 'risk of serious infections' and 'treatment administration') was administered to r/r MCL patients, physicians and the general population (GP) in Sweden and Germany. 18 patients, 68 physicians and 191 GP members participated.

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.

Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in particular the routine use of mechanical ventilatory support in advanced stages of the disease. In this systematic review and meta-analysis (PROSPERO identifier: CRD42019121800), we searched MEDLINE (through PubMed), CINAHL, Embase, PsycINFO, and Web of Science for studies published from inception up until December 31, 2018, reporting results of life expectancy in DMD.

Activities of daily living in myotonic dystrophy type 1.

Objectives: The objective of this cross-sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1).

Materials And Methods: Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1-Activ (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability).