The Natural History of Type 2 Gaucher Disease in the 21 st Century: A Retrospective Study.

OBJECTIVE: The purpose of the study is 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 - 55 months. Fourteen patients were treated with enzyme replacement therapy (ERT), 2 were treated with substrate reduction therapy (SRT) 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 (G-Tube) placed, while 10 underwent tracheostomies. Neurological 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 neurological manifestations. Despite aggressive therapeutic interventions, GD2 still remains a progressive disorder with a devastating prognosis, that may benefit from new treatment approaches.