Niemann-Pick Disease, Type C
Conditions
Brief summary
This is a prospective, multi-center, open-label, non-randomized, single-arm Phase IV confirmatory study. Approximately 19 subjects with Niemann Pick Type C disease (NPC) will be enrolled in this study. The study will be conducted at 2 sites in China.
Detailed description
This is a prospective, multi-center, open-label, non-randomized, single-arm Phase IV confirmatory study.The study is conducted in Chinese subjects aged 4 years and older with Niemann Pick Type C disease (NPC). Approximately 19 subjects will be enrolled in this study. The study will be conducted at 2 sites in China. Patients will be treated with miglustat for 12 months, efficacy and safety outcomes will be measured
Interventions
DRUGMiglustat
capsule, oral use
Sponsors
Actelion
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients with confirmed 2 pathogenic mutations in either Niemann Pick Type C Gene 1 or 2 (NPC 1 or NPC 2) or 1 pathogenic mutation in either NPC1 or NPC2 plus a positive biomarker (oxysterol or lysosphingolipids or bile acids) plus high clinical suspicion * Signed informed consent prior to any study-mandated procedure. * For subjects who are younger than 18 years consent must be sought of at least one legal guardian who shall sign the informed consent form and indicate the relationship between him/her and the subject. * Subjects who are 18 years or older must sign the consent. If the subject cannot make an independent decision to participate in the study, consent must be sought of the legal agents who shall sign the informed consent form and indicate the relationship between him/her and the subject. * Male and female subjects aged 4 years and older. * Subjects who can performed the tests for the horizontal and vertical saccadic eye movements; * Subjects who are able to swallow the study drug; * Women of childbearing potential are only eligible if the following applies: * Negative urine pregnancy test at screening. * Agreement to undertake monthly urine pregnancy tests during the study and up to at least 30 days after study treatment discontinuation. * Agreement to use one of the methods of birth control / follow the contraception scheme from screening up to at least 30 days after study treatment discontinuation. * A fertile male (physiologically capable of fathering a child according to investigator's judgment) is eligible only if he agrees to use a condom during the treatment period and for an additional 12 weeks after treatment discontinuation.
Exclusion criteria
Subjects must not fulfill any of the following
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Observed change in HSEM (ms/deg) | baseline to week 52 | Change in HSEM from baseline to week 52 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in Pineda disability scale score | baseline to week 52 | Change in the modified Pineda disability scale score. The scale is assessing 4 key domains (manipulation, ambulation, language and swallowing). Individual scores of the domains are claculated ted into a composite score, 6 being the lowest and best score and 24 being the worst and highest score. |
| Incidence of treatment-emergent AEs and SAEs | Baseline to 30 days after End of Treatment (Week 52) | Treatment-emergent adverse events (AEs) up to 30 days after EOT |
Countries
China
Outcome results
None listed