Neurological Sciences

, Volume 38, Issue 5, pp 727–743 | Cite as

Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann–Pick type C disease: review of initial published cases

  • Juan Eduardo Megías-Vericat
  • Ana García-Robles
  • María José Company-AlbirEmail author
  • María José Fernández-Megía
  • Francisco Carlos Pérez-Miralles
  • Eduardo López-Briz
  • Bonaventura Casanova
  • José Luis Poveda
Review Article


Niemann–Pick type C (NP-C) is a rare neurodegenerative disorder. Management is mainly supportive and symptomatic. The investigational use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) showed a promising role in treating NP-C, although efficacy and safety have not been established. We conducted searches of MEDLINE, Cochrane, EMBASE, and other databases of reported cases of HP-β-CD compassionate use in NP-C disease. Sixteen reported cases were eligible, including evaluable information of 17 patients. The median onset age of HP-β-CD was 14 years (range 2–49 years). Intrathecal route was employed in 16 patients, in 3 patients simultaneously to IV infusions. Intracerebroventricular route was used in two patients. An objective improvement of clinical outcomes was measured in 14 patients, mainly by the NIH NP-C Clinical Severity Score and brainstem auditory evoked potential. Besides, an increase in metabolism and activities of the brain were observed in image tests and cholesterol biomarkers. Most patients showed some clinical benefit or a stabilization of NP-C progression. There were 17 adverse events (AEs) reported in 11 patients, 11 of them related to the drug and 6 to the route of administration. Loss of hearing was reported in four patients. The most severe AE were fever and chemical meningitis. Results suggest that efficacy may be partial and dependent on the early administration of the drug, the severity of the disease, and interpersonal variability. HP-β-CD could help stabilize NP-C with low toxicity potential, although some AEs have been reported. Moreover, controlled clinical trials would be necessary to evaluate the role of HP-β-CD in NP-C.


Niemann–Pick 2-Hydroxypropyl-β-cyclodextrin Effectiveness Toxicity 



The authors wish to thank Drs. Caroline Hastings, Elizabeth Berry-Kravis, Muneaki Matsuo, Ana Valle, Mª Jesús Esteban, Sonia Cruz, Y Sakiyama, and Begoña Arias for the additional information about their patients. We are grateful to Mr. Luis González for his editorial assistance on this manuscript.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag Italia 2017

Authors and Affiliations

  • Juan Eduardo Megías-Vericat
    • 1
  • Ana García-Robles
    • 1
  • María José Company-Albir
    • 1
    Email author
  • María José Fernández-Megía
    • 1
  • Francisco Carlos Pérez-Miralles
    • 2
  • Eduardo López-Briz
    • 1
  • Bonaventura Casanova
    • 2
  • José Luis Poveda
    • 1
  1. 1.Servicio de Farmacia, Área del Medicamento, Hospital Universitari i Politècnic La FeValenciaSpain
  2. 2.Unidad Mixta de Esclerosis Múltiple y NeurorregeneraciónIIS Hospital La Fe, Universitat de València, Hospital Universitari i Politècnic La FeValenciaSpain

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