Niemann-Pick type C disease Nervous System Diseases Niemann-Pick type C disease
Conditions
Interventions
Patients in the juvenile/adult group (12 years or older) were randomised in a 2:1 ratio to either miglustat 200 mg three times daily orally (p.o.) for 12 months or standard symptomatic care (no study
Sponsors
Actelion Pharmaceuticals Ltd (Switzerland)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Juveniles and adults (12 years and over) and paediatric patients aged 4 - 11 years 2. Patients with Niemann-Pick type C disease confirmed by reduced cholesterol esterification and abnormal filipin staining in cultured fibroblasts 3. Capable of cooperating with physical examination and other testing
Exclusion criteria
Exclusion criteria: 1. Clinically significant diarrhoea (greater than three liquid stools per day for more than 7 days without definable cause) within 3 months before enrolment 2. Significant gastrointestinal disorders or other intercurrent illnesses
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary efficacy endpoint: change from baseline in Horizontal Saccadic Eye Movement (HSEM)-alpha (a measure of HSEM velocity) at 12 months or last available value | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary efficacy endpoints: 1. HSEM-beta 2. Assessments of swallowing (at screening and months 6 and 12; the assessor evaluated the patient's swallowing ability with prespecified substances, using a five-degree category scale from 'no problems of swallowing' to 'could not swallow the substance at all') 3. Auditory acuity (part of neurological examination at screening and months 3, 6, 9 and 12) 4. Ambulatory ability (standard ambulation index; part of neurological examination at screening and months 3, 6, 9 and 12) 5. Cognition (Mini Mental Status Examination [MMSE]; at screening and months 3, 6, 9, 12) | — |
Countries
United Kingdom, United States of America
Outcome results
None listed