Tamanna Roshan Lal1, Gurpreet K Seehra1, Alta M Steward1, Chelsie N Poffenberger1, Emory Ryan1, Nahid Tayebi1, Grisel Lopez1, Ellen Sidransky2. 1. From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC. 2. From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC. sidranse@mail.nih.gov.
Abstract
OBJECTIVE: To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. METHODS: A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families. RESULTS: Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on N-acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes placed; 10 underwent tracheostomies. Neurologic disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures, and diminished blinking, all of which worsened as disease progressed. CONCLUSIONS: Current available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches.
OBJECTIVE: To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. METHODS: A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families. RESULTS: Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on N-acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes placed; 10 underwent tracheostomies. Neurologic disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures, and diminished blinking, all of which worsened as disease progressed. CONCLUSIONS: Current available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches.
Authors: D L Stone; W F Carey; J Christodoulou; D Sillence; P Nelson; M Callahan; N Tayebi; E Sidransky Journal: Arch Dis Child Fetal Neonatal Ed Date: 2000-03 Impact factor: 5.747
Authors: Ozlem Goker-Alpan; Raphael Schiffmann; Joseph K Park; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky Journal: J Pediatr Date: 2003-08 Impact factor: 4.406