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Research & Innovation | Overview

The Bone Health Program has been actively involved in exploring the causes and symptoms of pediatric low bone density and researching new and improved treatments. Researchers at Boston Children's Hospital are currently investigating:

  • Genetics and Natural History of Multiple Fractures: We are currently enrolling patients with three or more fractures during childhood (or any spinal compression fractures) as well as any patient with a clinical diagnosis of osteogenesis imperfecta. Our goal is to better understand the genetic causes of why some children fracture more than others. The study involves genetic testing and surveys on pain and physical functioning. No extra visits to the hospital are needed to take part in this study. Please contact for more information and/or to see if you qualify for participation.
  • Delayed Puberty: Causes and Consequences, Phenotypes and Genotypes: This protocol seeks to elucidate multiple features of delayed puberty.
  • Bone Mineral Density Status in Pediatric and Adolescent Survivors of Childhood Cancer and History of Bone Fracture: This study in childhood cancer survivors with history of post-cancer therapy bone fracture will inform the understanding of skeletal fragility assessment.
  • A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria due to Cystathionine Beta-Synthase Deficiency in Pediatric and Adult Patients: A research study to find out more about homocystinuria, a disease in which the body is unable to break down some proteins (amino acids) properly.
  • Use of Farnesyltransferase inhibitor (FTI) Lonafarnib for Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies: This protocol measures an experimental drug's effect using many tests in hopes that this drug will have therapeutic effect on progeria.
  • Skeletal Health and Bone Marrow Composition in Transgender Youth: This study will examine the skeletal effects of the initial phase (on average, 18 months) of transgender treatment (i.e., pubertal blockade).
  • A Prospective Study to Evaluate Biological and Clinical Effects of Significantly Corrected CFTR Function (the Promise Study): This is a prospective, multi-center observational study. The study is designed to collect specimens from and perform functional measurements on cystic fibrosis subjects who have been prescribed the CFTR modulator TCT.
  • AG-348 in Adult Patients with Pyruvate Kinase Deficiency
  • Relation of Left Ventricular Mass to Lean Mass and Fat Mass
  • Clinical Study of Spinal Muscular Atrophy
  • Crohn's Skeletal Health