Efavirenz for Niemann-Pick disease type C

Inclusion criteria

• {"criterion_text":"- Patients (>18 years of age) included in the previous Niemann-Pick trial (EudraCT: 2019-004498-18)\n- Patients who sign the written informed consent"}

Exclusion criteria

• {"criterion_text":"- Patients who (at the principal investigator's discretion) would experience an overdemanding effort (financially and in terms of time) to participate in the extension study."}

Primary endpoints

• {"endpoint_text":"- Number of adverse events (AEs) according to seriousness, severity, and relationship with EFV","definition_or_measurement_approach":"Count and categorisation of adverse events by seriousness, severity, and assessed relationship to efavirenz (EFV)."}
• {"endpoint_text":"- Changes in the liver function panel","definition_or_measurement_approach":"Assessment of changes in standard liver function tests (liver function panel) relative to baseline."}
• {"endpoint_text":"- Change (not deterioration) in cognitive performance at 52 weeks of starting treatment with EFV, assessed by: (1) CDR-SoB score; (2) FCSRT score (verbal memory); and (3) executive functions - a-BT scores (digit span and mental control subtests), verbal fluency, TMT A and B scores, and SCWT scores.","definition_or_measurement_approach":"Cognitive performance measured at 52 weeks using specified neurocognitive instruments: CDR-SoB, FCSRT, a-BT subtests, verbal fluency, Trail Making Test A/B, and Stroop Color and Word Test."}

Secondary endpoints

• {"endpoint_text":"- Changes at 52 weeks of starting treatment with EFV relative to baseline in: (1) SARA score; (2) EAT-10 score; and (3) PDS score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted CDR-SoB score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted FCSRT score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted a-BT","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted Verbal lfuency score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted TMT A and B score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted SCWT score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted WAIS III/WAIS IV score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted BNT, Naming and Semantic Knowledge subtests’ scores","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted JLO score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted DEX score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted NPI score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted NPI score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted AES score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted BDI score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Weighted C-SSRS score","definition_or_measurement_approach":""}
• {"endpoint_text":"- Brain 18FDG PET–Scan: Quantification of cerebellar, cortical, and thalamic metabolism","definition_or_measurement_approach":"Quantitative 18FDG PET analysis of cerebellar, cortical, and thalamic metabolism."}
• {"endpoint_text":"- Brain MRI: Cortical, white matter, basal ganglia, and cerebellar structures volumetric analysis","definition_or_measurement_approach":"Volumetric MRI analysis of specified brain structures."}
• {"endpoint_text":"- Abdominal ultrasound: Spleen size (cm).","definition_or_measurement_approach":"Measurement of spleen size in centimeters by abdominal ultrasound."}
• {"endpoint_text":"- Oculography: initial speed, amplitude, and execution speed of vertical and horizontal saccades","definition_or_measurement_approach":"Oculography metrics of saccade speed, amplitude, and execution for vertical and horizontal movements."}
• {"endpoint_text":"- Plasma Oxysterols levels","definition_or_measurement_approach":"Laboratory quantification of plasma oxysterol concentrations."}
• {"endpoint_text":"- Plasma Lyso-SM-509 level","definition_or_measurement_approach":"Laboratory measurement of plasma Lyso-SM-509."}
• {"endpoint_text":"- Plasma 24-OH-Cholesterol level","definition_or_measurement_approach":"Laboratory measurement of plasma 24-hydroxycholesterol."}
• {"endpoint_text":"- Cerebrospinal Fluid (CSF) Beta-Amyloid, Tau, and phosphorylated Tau levels","definition_or_measurement_approach":"CSF assays for beta-amyloid, total tau, and phosphorylated tau concentrations."}

Spain

Earliest CTIS Part Ii Submission Date

15-02-2024

Latest Decision Or Authorization Date

26-08-2025

Processing Time Days

558

Number Of Sites

1

Number Of Participants

16

Primary sponsor

Full Name

Bellvitge University Hospital

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Spain

Co-sponsors

• Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL