RT Journal Article
SR Electronic
T1 Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C
JF European Journal of Hospital Pharmacy
JO Eur J Hosp Pharm
FD British Medical Journal Publishing Group
SP 185
OP 188
DO 10.1136/ejhpharm-2016-001067
VO 24
IS 3
A1 Maria Roch Santed
A1 Maria Josep Cabañas Poy
A1 Mireia Del Toro Riera
A1 Carme Cañete Ramírez
A1 Aurora Fernández Polo
A1 Susana Clemente Bautista
YR 2017
UL http://ejhp.bmj.com/content/24/3/185.abstract
AB Case A child with Niemann-Pick disease type C was started on miglustat therapy at the age of 2 years. Intrathecal administration of hydroxypropyl-β-cyclodextrin was added 5 months later. The initial dose of 175 mg was gradually increased over the first 6 months to reach 325 mg. The drug was administered every 15 days, and the patient received 43 doses. A slight delay in progression of the disease was seen during the first year of intrathecal hydroxypropyl-β-cyclodextrin. However, additional symptoms have emerged since that time, suggesting a lack of effectiveness of the drug. Our patient has shown no drug-related adverse events.Conclusions Intrathecal hydroxypropyl-β-cyclodextrin therapy is safe, but its efficacy seems questionable in a patient with the severe infantile form of Niemann-Pick disease type C.