Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia.

Friedreich ataxia is a progressive autosomal recessive neurodegenerative disorder characterized by ataxia, dyscoordination, and cardiomyopathy. A subset of patients with Friedreich ataxia have elevated levels of serum cardiac troponin I, but associations with disease outcomes and features of cardiomyopathy remain unclear. In this study, we characterized clinically obtained serum cardiac biomarker levels including troponin I, troponin T, and B-type natriuretic peptide in subjects with Friedreich ataxia and evaluated their association with markers of disease.

Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.

Background And Objectives: The Friedreich ataxia (FRDA) scientific community needs access to patient-centered outcome measures that satisfy regulatory guidelines and are capable of tracking clinically meaningful changes in FRDA disease burden. The objective of this research was to develop a novel, disease-specific caregiver-reported outcome measure for use in FRDA research and clinical care.

Methods: In prior work, we conducted qualitative interviews and a cross-sectional study of FRDA caregivers and patients to determine the symptoms of greatest importance to individuals with FRDA.

Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure.

Background And Objectives: To develop a valid, disease-specific, patient-reported outcome (PRO) measure for adolescents and adults with Friedreich ataxia (FA) for use in therapeutic trials.

Methods: We conducted semistructured qualitative interviews and a national cross-sectional study of individuals with FA to determine the most prevalent and burdensome symptoms and symptomatic themes to this population. These symptoms and symptomatic themes were included as questions in the first version of the Friedreich's Ataxia-Health Index (FA-HI).

Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.

Objective: Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA-TR) expansion in the FXN gene. Clinical features of FRDA include ataxia, cardiomyopathy, and in some, vision loss. In this study, we characterize features of vision loss in a large cohort of adults and children with FRDA.

Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia.

Introduction: Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally vision loss in late-stage disease. The discovery of the abnormal gene in FRDA and its product frataxin has provided insight into the pathophysiology and mechanisms of treatment.

Areas Covered: Although the neurologic phenotype of FRDA is well defined, there are currently no established pharmacological treatments.

Patient-Reported Impact of Symptoms in Friedreich Ataxia.

Background And Objectives: To determine the prevalence and relative importance of symptoms experienced by children and adults with Friedreich ataxia (FA) and to identify factors associated with a higher burden of disease.

Methods: We conducted qualitative interviews with individuals with FA and caregivers of pediatric individuals with FA to identify potential symptoms of importance to those living with FA. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in FA and to determine which factors are associated with a higher burden of disease.

Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

Aims: Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM.

Outcomes of an inpatient medical nutritional rehabilitation protocol in children and adolescents with eating disorders.

Background: Medical stabilization through inpatient nutritional rehabilitation is often necessary for patients with eating disorders (EDs) but includes the inherent risk of refeeding syndrome. Here we describe our experience of implementing and sustaining an inpatient nutritional rehabilitation protocol designed to strategically prepare patients with EDs and their families for discharge to a home setting in an efficient and effective manner from a general adolescent medicine unit. We report outcomes at admission, discharge, and 4-weeks follow-up.