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.