A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

Inclusion Criteria: * Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures; * Males and females aged from 2 years to 18 years and 11 months; * Patients of any ethnic background will be eligible for this study; * Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards; * Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2; * NP-C diagnosis genetically confirmed (deoxyribonucleic acid \[DNA\] sequence analysis); * Both NPC1 and NPC2 patients are eligible; * Presenting at least one neurological symptom of the disease (for example, but not limited to, hearing loss, vertical supranuclear gaze palsy, ataxia, dementia, dystonia, seizures, dysarthria, or dysphagia); * Ability to walk either independently or with assistance; * Ability to travel to the corresponding clinical trial site repeatedly (every 6 months) for evaluation and follow-up; * Treated or non-treated with miglustat; * If a patient is under prescribed treatment with miglustat, it has to be under stable dose of the medication for ≥ 3 continuous months prior to inclusion in the study; * Sexually active patients must be willing and able to use an adequate method of contraception throughout the study, for example: diaphragm + spermicide; intrauterine contraceptive device; oral contraceptives; implant; injection of a progestogen medication; * Ability to comply with the prot…