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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.
Glossary
- BMT=
- bone marrow transplantation;
- ERT=
- enzyme replacement therapy;
- FTT=
- failure to thrive;
- GD=
- Gaucher disease;
- GD1=
- Gaucher disease type 1;
- GD2=
- Gaucher disease type 2;
- GD3=
- Gaucher disease type 3;
- GER=
- gastroesophageal reflux;
- SRT=
- substrate reduction therapy;
- TPN=
- total parenteral nutrition
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received January 16, 2020.
- Accepted in final form May 5, 2020.
- © 2020 American Academy of Neurology
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