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Phase 2 N=33 Single-blind Treatment

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)

Niemann-Pick Disease, Type C

Enrolled (actual)
33
Serious AEs
6.3%
Results posted
Nov 2023
Primary outcome: Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.86 score on a scale — p=0.029

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
IB1001 (Drug)
Age
Pediatric, Adult, Older Adult · 6+ yrs
Sex
All
Sponsor
IntraBio Inc
Primary completion
Nov 2022

Outcome Measures

OutcomeResultp-value
PRIMARY
Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021]
0.86 0.029 sig
SECONDARY
Key Secondary Endpoint: Individual Components of the CI-CS
0.48; -0.38
SECONDARY
Key Secondary Endpoint: Change in Severity Based on Average CI-S
0.08 0.318
SECONDARY
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
9; 3; 20; 16; 2; 10
SECONDARY
Key Secondary Endpoint: CI-CS Score for the Non-Primary Anchor Test
-0.20; 0.15
SECONDARY
Spinocerebellar Ataxia Functional Index (SCAFI) [Schmitz-Hübsch et al, 2008]
0.0995; 0.0076 0.084
SECONDARY
Scale for Assessment and Rating of Ataxia (SARA) Score [Schmitz-Hübsch et al, 2006; Subramony, 2007]
-1.19; 1.45 0.001 sig
SECONDARY
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale: Visual Analogue Scale (VAS)
72.7; 68.5
SECONDARY
Modified Disability Rating Scale (mDRS) [Iturriaga et al. 2006]
-0.012; 0.016 0.121
SECONDARY
Investigator's Clinical Global Impressions of Change (CGI-C)
3.4; 4.5 <0.001 sig
SECONDARY
Parent/Caregiver's Clinical Global Impression of Change (CGI-C)
3.4; 4.4 0.005 sig
SECONDARY
Patient's Clinical Global Impressions (CGI) if Able
3.3; 4.3 0.003 sig

Summary

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of NPC. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of NPC.

Eligibility Criteria

Inclusion Criteria

Individuals who meet all of the following criteria are eligible to participate in the study:

  • Written informed consent signed by the patient and/or their legal representative/ parent
  • Male or female aged ≥6 years in Europe OR ≥18 years in the United States with a confirmed diagnosis of NPC at the time of signing informed consent. Patients must have clinical features of NPC and a positive genetic test for mutations in both copies of NPC1 or in both copies of NPC2.
  • Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose continuing through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in 5x upper limit of normal (ULN);
  • Total bilirubin >1.5x ULN, unless Gilbert's syndrome is present in which case total bilirubin >2x ULN.
  • Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.
  • Current or planned pregnancy or women who are breastfeeding.
  • Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the investigator's discretion, interferes with their ability to perform study assessments.
  • Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affects patient's mobility and, at the investigator's discretion, interferes with their ability to perform study assessments.
  • Patients unwilling and/or not able to undergo a 6-week washout period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.
  • Aminopyridines (including sustained-release form);
  • N-Acetyl-DL-Leucine (e.g. Tanganil®);
  • N-Acetyl-L-Leucine (prohibited if not provided as IMP);
  • Riluzole;
  • Gabapentin;
  • Varenicline;
  • Chlorzoxazone;
  • Sulfasalazine;
  • Rosuvastatin.

Extension Phase Inclusion Criteria

  • Completed Visit 6 of the IB1001-201 Parent Study
  • The Principal Investigator determines further treatment with IB1001 to be in patient's best interest
  • Written informed consent signed by the patient and/or their legal representative/parent/ impartial witness for participation in the Extension Phase
  • Patients are willing to continue to remain without the following prohibited medication from Visit 6 throughout the duration the Extension Phase:
  • Aminopyridines (including sustained-release form);
  • N-Acetyl-DL-Leucine (e.g. Tanganil®);
  • N-Acetyl-L-Leucine (prohibited if not provided as IMP);
  • Riluzole;
  • Gabapentin;
  • Varenicline;
  • Chlorzoxazone;
  • Sulfasalazine;
  • Rosuvastatin.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03759639). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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