Recent Publications from Our Team
We are proud to share the following publications from the BSF research team:
Kenneson A, Huang Y, Lontok E, Marjoram L. The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data. J Transl Genet Genom. 2024;8:285-97. doi:10.20517/jtgg.2024.22. Read our research summary.
Marjoram L, Huang Y, Koenig MK, Cohen BH, Anderson E. Real-world disease burden and health care resource utilization for patients with Barth syndrome. J Med Econ. 2025;28(1):2010-2026. doi:10.1080/13696998.2025.2588729
Marjoram L, Huang Y, Koenig MK, Cohen BH, Anderson E. Real-world disease burden and health care resource utilization for patients with Barth syndrome. J Med Econ. 2025 Dec;28(1):2010-2026. doi: 10.1080/13696998.2025.2588729.
The Barth Syndrome Foundation is partnering with the Biostatistical Collaboration and Consultation Core at New York University to better understand lifespan (scientifically referred to as survival) and factors that may impact survival in Barth syndrome. Advancing our knowledge on survival in Barth syndrome is crucial for improving patient care, increasing public awareness, and for receiving research dollars. Dr. Alex Dahlen and PhD candidate Kexin Fu, MS, who are biostaticians at New York University, will analyze deidentified data collected by the Barth Syndrome Foundation and the Barth Syndrome Registry to accomplish several important research goals on this topic:
1) Estimate survival by ages. We will use the dataset to analyze how the risk of death to Barth Syndrome varies by the affected individual’s age.
(2) Explore risk factors associated with mortality. We will consider a small number of primary risk factors, including diagnosis of neutropenia and receiving a heart transplant. We will test for an association between these risk factors and an increased hazard of death.
(3) Exploratory analysis of the birth cohort. For the small number of affected individuals who initiated contact with the Barth Syndrome Foundation at birth, we will conduct an exploratory analysis to understand how symptoms and risks evolve early in life for Barth syndrome affected individuals.
(4) Characterize how clinical manifestations evolves over time. We will use the registry data in which patients of different ages responded about what symptoms they are currently experiencing to help characterize how symptoms evolve with age.
(5) Understand causes of death. For Barth syndrome affected individuals in the registry who have deceased, we will explore patterns in their causes of death.
