Overview
Sponsor-declared trial summary
Phase
Therapeutic exploratory (Phase II)
Status
Ongoing, recruitment ended
Participants planned
16
Countries
1
Sites
1
Type C Niemann-Pick Disease
To evaluate the safety and effectiveness of efavirenz (EFV) at an oral dose of 25 mg/d, in addition to standard treatment, in patients diagnosed with adult or late-onset juvenile type C Niemann-Pick disease (NP-C) with cognitive impairment.
Key facts
- Sponsor
- Bellvitge University Hospital, Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL
- Participant type
- Patients
- Age range
- 18-64 years
- Gender
- Male and Female
- Therapeutic area
- Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16], Diseases [C] - Nervous System Diseases [C10]
- Trial duration
- 7 Nov 2024 → ongoing
- Decision date (initial)
- 2024-05-16
- Transition trial
- No
- Low-intervention
- No
- Rare-disease indication
- Yes
- Vulnerable population
- No
- Funding sources
- Fundación Niemann-Pick España
Trial design
CTIS Part I — objectives, methods, condition coding
Main objective
Scope: Safety, Efficacy, Therapy
To evaluate the safety and effectiveness of efavirenz (EFV) at an oral dose of 25 mg/d, in addition to standard treatment, in patients diagnosed with adult or late-onset juvenile type C Niemann-Pick disease (NP-C) with cognitive impairment.
Secondary objectives 4
- To assess the long-term safety of EFV in patients diagnosed with adult or late-onset juvenile NP-C with cognitive impairment,
- To evaluate the change in the Scale for the Assessment and Rating of Ataxia (SARA), Eating Assessment Tool score (EAT-10), and Pineda Disability Scale (PDS).
- To evaluate the change in the Clinical Dementia Rating Scale-Sum of Boxes (CDR-SoB), Free and Cued Selective Reminding Test (FCSRT), abbreviated Barcelona Test (a-BT), Verbal fluency (Semantic and phonetic cues), Trail Making Test (TMT) A and B, Stroop Color and Word Test (SCWT), Wechsler Adult Intelligence Scale (WAIS) and the block design, symbol search and vocabulary subtests (WAIS-III/WAIS-IV), Boston Naming Test (BNT) and the Naming and Semantic Knowledge subtests, Judgement of Line Orientation (JLO) Test, Dysexecutive Questionnaire (DEX), Neuropsychiatric Inventory (NPI), Apathy Evaluation Scale (AES), Beck’s Depression Inventory (BDI), and Columbia Suicide Severity Rating Scale (C-SSRS).
- To assess the change in imaging, functional, and plasmatic biomarkers.
Conditions and MedDRA coding
Type C Niemann-Pick Disease
| Version | Level | Code | Term | System organ class |
|---|---|---|---|---|
| 20.0 | PT | 10029403 | Niemann-Pick disease | 100000004850 |
Study design 1 period
| # | Title | Allocation | Blinding | Roles blinded | Arms |
|---|---|---|---|---|---|
| 1 | Efavirenz This study will consist of a single-group extension study.
|
Not Applicable | None |
Regulatory references
- Plan to share IPD
- Yes
- IPD plan description
- Deidentified IPD related to demographics, baseline characteristics, and primary and secondary outcomes will be made available by the Principal Investigator (PI), upon reasonable request from qualified academic researchers who submit a methodologically sound proposal. Access will be granted after approval of the proposal by the PI and, if applicable, an ethics committee. A data sharing agreement will be required.
| EU CT number | Title | Sponsor |
|---|---|---|
| 2023-505832-36-00 | OPEN-LABEL EXTENSION STUDY TO ASSESS THE SAFETY AND LONG-TERM EFFECTIVENESS OF ORALLY ADMINISTERED EFAVIRENZ IN PATIENTS DIAGNOSED WITH ADULT OR LATE-ONSET JUVENILE TYPE C NIEMANN-PICK DISEASE WITH COGNITIVE IMPAIRMENT | Bellvitge University Hospital |
| 2019-004498-18 | EFFICACY AND SAFETY CLINICAL TRIAL WITH EFAVIRENZ IN PATIENTS DIAGNOSED WITH ADULT NIEMANN-PICK TYPE C WITH COGNITIVE IMPAIRMENT, ENSAYO CLÍNICO DE EFICACIA Y SEGURIDAD DE EFAVIRENZ EN PACIENTES DIAGNOSTICADOS DE NIEMANN-PICK C DEL ADULTO CON DETERIORO COGNITIVO |
Eligibility criteria
Principal inclusion / exclusion criteria as submitted by sponsor
Inclusion criteria 2
- Patients (>18 years of age) included in the previous Niemann-Pick trial (EudraCT: 2019-004498-18)
- Patients who sign the written informed consent
Exclusion criteria 1
- 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.
Endpoints
Primary and secondary outcome measures (English text)
Primary endpoints 3
- Number of adverse events (AEs) according to seriousness, severity, and relationship with EFV
- Changes in the liver function panel
- 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.
Secondary endpoints 24
- Changes at 52 weeks of starting treatment with EFV relative to baseline in: (1) SARA score; (2) EAT-10 score; and (3) PDS score
- Weighted CDR-SoB score
- Weighted FCSRT score
- Weighted a-BT
- Weighted Verbal lfuency score
- Weighted TMT A and B score
- Weighted SCWT score
- Weighted WAIS III/WAIS IV score
- Weighted BNT, Naming and Semantic Knowledge subtests’ scores
- Weighted JLO score
- Weighted DEX score
- Weighted NPI score
- Weighted NPI score
- Weighted AES score
- Weighted BDI score
- Weighted C-SSRS score
- Brain 18FDG PET–Scan: Quantification of cerebellar, cortical, and thalamic metabolism
- Brain MRI: Cortical, white matter, basal ganglia, and cerebellar structures volumetric analysis
- Abdominal ultrasound: Spleen size (cm).
- Oculography: initial speed, amplitude, and execution speed of vertical and horizontal saccades
- Plasma Oxysterols levels
- Plasma Lyso-SM-509 level
- Plasma 24-OH-Cholesterol level
- Cerebrospinal Fluid (CSF) Beta-Amyloid, Tau, and phosphorylated Tau levels
Investigational products
Investigational medicinal products (IMPs), comparators, placebo, auxiliary
Test 1
SCP187249 · ATC
- Active substance
- Aprepitant
- Route of administration
- ORAL USE
- Max daily dose
- 200 mg milligram(s)
- Max total dose
- 200 mg milligram(s)
- Max treatment duration
- 52 Week(s)
- Authorisation status
- Authorised
- ATC code
- J05AG03 — EFAVIRENZ
- Marketing authorisation
- -
- Paediatric formulation
- No
- Orphan designation
- No
- Modified vs. Marketing Authorisation
- No
Sponsors and contacts
Sponsor organisations, regulatory contacts, third parties
Bellvitge University Hospital
- Sponsor organisation
- Bellvitge University Hospital
- Address
- Carrer De La Feixa Llarga Sn
- City
- L'hospitalet De Llobregat
- Postcode
- 08907
- Country
- Spain
Scientific contact point
- Organisation
- Bellvitge University Hospital
- Contact name
- Sebastián Videla Cès
Public contact point
- Organisation
- Bellvitge University Hospital
- Contact name
- Sebastián Videla Cès
Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL
- Sponsor organisation
- Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL
- Address
- Avinguda De La Gran Via De L'hospitalet 199
- City
- L'Hospitalet De Llobregat
- Postcode
- 08908
- Country
- Spain
Scientific contact point
- Organisation
- Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL
- Contact name
- Yaiza Hermoso Gallego
Public contact point
- Organisation
- Fundacio Institut D'Investigacio Biomedica De Bellvitge IDIBELL
- Contact name
- Yaiza Hermoso Gallego
Sponsor responsibilities
- Article 77 compliance
- Bellvitge University Hospital
- Contact point sponsor
- Bellvitge University Hospital
- Article 77 implementation
- Bellvitge University Hospital
Locations
1 EU/EEA country · 1 investigational sites
By country
| Country | MS status | Planned subjects | Sites |
|---|---|---|---|
| Spain | Ongoing, recruitment ended | 16 | 1 |
| Rest of world | — | 0 | — |
Investigational sites
Bellvitge University Hospital
Neurology, Carrer De La Feixa Llarga Sn, 08907, L'hospitalet De Llobregat
Country notifications
Trial-start, recruitment-start, end and early-termination notifications submitted per Member State
| Country | Trial start | Trial end | Recruitment start | Recruitment end | Early termination |
|---|---|---|---|---|---|
| Spain | 2024-11-07 | 2024-11-08 | 2025-10-02 |
Results and documents
Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial
Documents 11 files
Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.
| Type | Title | Version |
|---|---|---|
| Protocol (for publication) | Protocolo Extension 1_4 NPC_EFV 2025_01_28 Clean | 1.4 |
| Protocol (for publication) | Protocolo Extension NPC_EFV | 1.1 |
| Recruitment arrangements (for publication) | Procedimiento de Reclutamiento y de Obtencion del Consentimiento Informado | 1 |
| Recruitment arrangements (for publication) | Procedimiento de Reclutamiento y de Obtencion del Consentimiento Informado 1_1 | 1.1 |
| Subject information and informed consent form (for publication) | Consentimiento Informado 1_1 | 1.1 |
| Subject information and informed consent form (for publication) | Consentimiento Informado 1_2 | 1.2 |
| Subject information and informed consent form (for publication) | Hoja de Informacion al Paciente | 1.1 |
| Subject information and informed consent form (for publication) | Hoja de Informacion al Paciente 1_2 | 1.2 |
| Summary of Product Characteristics (SmPC) (for publication) | Sustiva Ficha Tecnica | 1 |
| Synopsis of the protocol (for publication) | Resumen Protocolo de Extension NPC | 1.1 |
| Synopsis of the protocol (for publication) | Resumen Protocolo Extension 1_4 NPC_EFV | 1.4 |
Application history
2 submissions — initial application plus substantial / non-substantial modifications
| # | Type | Code | Submitted | Reference MS | Conclusion | Decision date |
|---|---|---|---|---|---|---|
| 1 | INITIAL | IN | 2024-01-29 | Spain | Acceptable 2024-05-16
|
2024-05-16 |
| 2 | SUBSTANTIAL MODIFICATION | SM-3 | 2025-05-23 | Spain | Acceptable 2025-07-23
|
2025-08-26 |