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.

Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review.

Objectives: The rare inherited autosomal recessive disease Friedreich ataxia (FA) causes progressive neurodegenerative changes and disability in patients. A systematic literature review (SLR) was carried out to understand and summarize the published efficacy and safety of therapeutic interventions in this disease.

Methods: Database searches were carried out in MEDLINE, Embase, and Cochrane by two independent reviewers.

A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia.

Introduction: Friedreich ataxia (FA) is a rare, inherited neuromuscular disease characterized by an early onset and progressive limb and gait ataxia. Currently, there are no approved treatments for FA. It is important to understand the burden of FA, including its extent and the most salient elements.

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.

Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.

Background: Aromatic L-amino acid decarboxylase deficiency (AADCd) is an ultra-rare genetic neurometabolic disorder caused by mutations in the gene.

Objective: This retrospective, noninterventional study was designed to describe the burden of AADCd including the associated healthcare resource utilization in Southern Europe.

Methods: Eleven clinicians completed a patient case study survey for patients with AADCd currently or previously under their care, followed by an interview with each clinician to assess healthcare resource utilization, patient characteristics, and symptoms.

Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.

Objective: The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported in the published literature and to collate evidence of the clinical manifestations of AADCd, and the impact of the disease on patients, caregivers, and healthcare systems.

Methods: Published articles reporting severity of disease or disease impact were eligible for inclusion in this review. Articles were searched in MEDLINE, EMBASE, Cochrane CENTRAL, TRIP medical, and CRD databases in October 2021.

Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function.

Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare neurological disorder associated with a range of symptoms and functional impairments. The aim of this study was to describe the experience of AADC deficiency across five different motor milestone health states.

Methods: Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in Italy, Spain, Portugal and the United States.

Quality of life and informal care burden associated with duchenne muscular dystrophy in Portugal: the COIDUCH study.

Background: To describe the reduced health-related quality of life (HRQoL) of duchenne muscular dystrophy (DMD) patients and their caregiver burden and to present its relationship with disease progression.

Methods: This cross-sectional study assessed patient HRQoL with the 3-level version of the EuroQol-5D (EQ-5D-3L) and caregiver burden with the Work Productivity and Activity Impairment: General Health questionnaire. DMD patients and their caregivers were identified through Portuguese Neuromuscular Association (APN).

A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in France.

Purpose: Cost-effectiveness evaluations of interventions require health utility data. However, in medical conditions, such as aromatic L-amino acid decarboxylase (AADC) deficiency, this presents problems due to the rarity of the disease. The study aim therefore was to employ a discrete choice experiment (DCE) to generate health utilities for AADC deficiency.

Eliciting health state utilities for Aromatic L-amino Acid Decarboxylase (AADC) deficiency: a UK vignette study.

Purpose: The aim of this study was to generate health state utilities for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic, lifelong neurogenerative condition predominantly manifesting in young infants.

Methods: Participants were presented with health state vignettes. These had been previously developed based on published literature, clinician input, interviews with parents of AADC deficiency patients and expert opinion.

Cost of Illness in Patients with Duchenne Muscular Dystrophy in Portugal: The COIDUCH Study.

Objective: The aim of this study was to estimate the cost of illness (COI) of Duchenne muscular dystrophy (DMD) and its relation to disease progression, using age as a proxy, and according to the ambulatory status of patients.

Methods: We conducted a cross-sectional study of patients diagnosed with DMD identified through the Portuguese Neuromuscular Patients Association (APN). Data regarding patient and caregiver demographics, patient health status, resource utilization and cost, and informal care were collected using a custom semistructured questionnaire.

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model.

Background: Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy and experience with ataluren.

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall.

Eliciting Health State Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Vignette Study in France.

Purpose: Health-related quality of life (HRQoL) is difficult to measure in rare diseases, especially in paediatric populations, yet capturing HRQoL is critical to evaluating treatment, including the cost-effectiveness of treatments. Given the ultra-rare nature of AADC deficiency indirect elicitation of HRQoL data through proxy caregiver/parent ratings is not feasible. In these circumstances, HRQoL data may be derived through vignette studies using the general population.

The impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model.

Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, associated with a wide range of symptoms and functional issues, such as profound motor impairment and learning disability. Most individuals with AADC deficiency are completely dependent on their caregivers. This study explored the impact of caring for an individual with AADC deficiency.

Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model.

Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, with an estimated global prevalence of 1:32,000 to 1:90,000 live births. AADC deficiency is associated with a range of symptoms and functional impairments, but these have not previously been explored qualitatively. This study aimed to understand the symptoms of AADC deficiency and its impact on individuals' health-related quality of life.

A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency.

Purpose: Deriving health utilities for rare medical conditions such as aromatic L-amino acid decarboxylase (AADC) deficiency poses challenges. The rarity of AADC deficiency and the fact that this genetic condition often presents in very young children means that robust utility values cannot be derived from the child or their parent/caregiver. Alternative approaches, eg, discrete choice experiments (DCE), are required in order to provide health utilities.

Deriving Vignettes for the Rare Disease AADC Deficiency Using Parent, Caregiver and Clinician Interviews to Evaluate the Impact on Health-Related Quality of Life.

Purpose: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic condition, characterised by movement disorder, and speech and cognitive functioning impairment. To enable economic evaluation of treatments, health-related quality of life or utilities need to be derived. These are currently lacking in the literature.

A model of the costs of community and nosocomial pediatric respiratory syncytial virus infections in Canadian hospitals.

Background: Approximately one in 10 hospitalized patients will acquire a nosocomial infection (NI) after admission to hospital, of which 71% are due to respiratory viruses, including the respiratory syncytial virus (RSV). NIs are concerning and lead to prolonged hospitalizations. The economics of NIs are typically described in generalized terms and specific cost data are lacking.

Comparison of risk factors between preterm and term infants hospitalized for severe respiratory syncytial virus in the Russian Federation.

Background: Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infection in infants. Preterm birth, in addition to several demographic and environmental factors, increases the risk for development of severe RSV infection. The purpose of this study was to describe differences in risk factors and protective factors between preterm birth (up to 35 weeks' gestational age) and term infants hospitalized for RSV lower respiratory tract infection in the Russian Federation during the 2008-2009 RSV season.

Cost-effectiveness analysis of palivizumab as respiratory syncytial virus prophylaxis in preterm infants in Sweden.

Aim: To investigate the cost-effectiveness of palivizumab vs. no prophylaxis for respiratory syncytial virus (RSV) infection in preterm infants in Sweden.

Methods: A probabilistic Markov model was populated using a nationwide register linkage and data from the literature.

Mortality, morbidity and costs attributable to smoking in Germany: update and a 10-year comparison.

Objective: To assess the negative health consequences and associated costs of cigarette smoking in Germany in 2003 and to compare them with the respective results from 1993.

Methods: The number of deaths, years of potential life lost (YPLL), direct medical and indirect costs caused by active cigarette smoking in Germany in 2003 is estimated from a societal perspective. The method is similar to that applied by Welte et al, who estimated the cost of smoking in Germany in 1993.