Quality of life in Barth syndrome

Alexander Y Kim; Hilary Vernon; Ryan Manuel; Mohammed Almuqbil; Brittany Hornby

doi:10.1177/26330040221093743

Quality of life in Barth syndrome

Ther Adv Rare Dis. 2022 Jun 11:3:26330040221093743. doi: 10.1177/26330040221093743. eCollection 2022 Jan-Dec.

Authors

Alexander Y Kim¹, Hilary Vernon², Ryan Manuel³, Mohammed Almuqbil⁴, Brittany Hornby⁵

Affiliations

¹ Division of Genetics, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
² Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USADepartment of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
³ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴ College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaDivision of Pediatric Neurology, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia.
⁵ Physical Therapy Department, Kennedy Krieger Institute, 801 N Broadway, Baltimore, MD 21205, USA.

Abstract

Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population. This study investigated the impact of BTHS on HRQoL and select physiologic measures in affected boys and men.

Methods: In this study, we characterize HRQoL in boys and men with BTHS through cross-sectional analysis of a variety of outcome measures including the Pediatric Quality of Life Inventory (PedsQL^TM) Version 4.0 Generic Core Scales, PedsQL^TM Multidimensional Fatigue Scale, Barth Syndrome Symptom Assessment, the PROMIS^TM Fatigue Short Form, the EuroQol Group EQ-5D^TM, the Patient Global Impression of Symptoms (PGIS), and the Caregiver Global Impression of Symptoms (CaGIS). For a specific subset of participants, physiologic data were available in addition to HRQoL data.

Results: For the PedsQL^TM questionnaires, 18 unique child and parent reports were analyzed for children aged 5-18 years, and nine unique parent reports were analyzed for children aged 2-4 years. For the other HRQoL outcome measures and physiologic measurements, the data from 12 subjects (age range 12-35 years) were analyzed. Based on parent and child reports, HRQoL is significantly impaired in boys and men with BTHS, especially in school functioning and physical functioning. Parent and child reports of more severe fatigue are significantly correlated with more impaired HRQoL. When exploring the potential relationship between physiology and HRQoL, the CaGIS as a whole for pediatric subjects and individual questionnaire items from the PGIS and CaGIS for pediatric subjects assessing tiredness, muscle weakness, and muscle pain showed the strongest correlations.

Conclusion: This study provides a unique characterization of the HRQoL in boys and men with BTHS using a variety of outcome measures, and it highlights the negative impact of fatigue and muscle weakness on HRQoL in BTHS.

Trial registry name: A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects with Barth Syndrome (TAZPOWER). https://clinicaltrials.gov/ct2/show/NCT03098797.Registration Number: NCT03098797.

Keywords: Barth Syndrome; PedsQL; fatigue; muscle weakness; quality of life.

Plain language summary

Quality of Life in Barth Syndrome Barth syndrome is a rare disorder characterized by heart issues, muscle weakness, tiredness, exercise intolerance, and growth delays. The study was done to determine the effect of Barth syndrome on health-related quality of life of the boys and men affected. We analyzed health-related quality of life questionnaires completed by subjects and/or their parents from the following: • Interdisciplinary Barth Syndrome Clinic at Kennedy Krieger Institute. There were 24 subjects in total from this clinic. • Baseline data from a clinical drug trial for Barth Syndrome that included both health-related quality of life data and physical function data. There were data from 12 subjects in total from the trial. We discovered that health-related quality of life is significantly impaired in boys and men with Barth syndrome, especially in school and physical function. Parent and child reports of more severe tiredness are significantly linked with impaired health-related quality of life. There are strong relationships between some health-related quality of life reports and physical function measurements. Tiredness and muscle weakness negatively impact health-related quality of life. We are hopeful that the results of this study will be used in the treatment of boys and men with Barth syndrome to result in improved health-related quality of life.

Associated data

ClinicalTrials.gov/NCT03098797