24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
Niemann-Pick C (NPC) is a fatal progressive neurolipidosis. Miglustat, an inhibitor of glycosphingolipid synthesis, has been proposed to treat patients but questions remain regarding its efficacy. A major problem has been the lack of suitable objective efficacy endpoints. Three adults with NPC were treated with miglustat for 24 months. Efficacy of treatment was assessed clinically and using brain magnetic resonance spectroscopy. All patients reported mild clinical improvement or stabilization. Furthermore, a sustained decrease in the choline/creatine ratio was observed in all three patients over time. Although these preliminary results require confirmation on a larger cohort of patients, they suggest that miglustat has some beneficial effect on brain dysfunction in NPC and that MRS could be used routinely as a non invasive surrogate marker of treatment efficacy.
Galanaud
Damien
D
Department of Neuroradiology and Center for NeuroImaging Research-CENIR , Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, France.
Tourbah
Ayman
A
Lehéricy
Stéphane
S
Leveque
Nathalie
N
Heron
Bénédicte
B
Billette de Villemeur
Thierry
T
Guffon
Nathalie
N
Feillet
François
F
Baumann
Nicole
N
Vanier
Marie T
MT
Sedel
Frédéric
F
D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000328:Adult; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002794:Choline / Q000378:metabolism; D015331:Cohort Studies; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000188:drug therapy*; D016896:Treatment Outcome
D017485:1-Deoxynojirimycin; C059896:miglustat; D003401:Creatine; D002794:Choline