PT  - JOURNAL ARTICLE
AU  - Maria Roch Santed
AU  - Maria Josep Cabañas Poy
AU  - Mireia Del Toro Riera
AU  - Carme Cañete Ramírez
AU  - Aurora Fernández Polo
AU  - Susana Clemente Bautista
TI  - Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C
AID  - 10.1136/ejhpharm-2016-001067
DP  - 2017 May 01
TA  - European Journal of Hospital Pharmacy
PG  - 185--188
VI  - 24
IP  - 3
4099  - http://ejhp.bmj.com/content/24/3/185.short
4100  - http://ejhp.bmj.com/content/24/3/185.full
SO  - Eur J Hosp Pharm2017 May 01; 24
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.