Trial Outcomes & Findings for N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) (NCT NCT03759639)

NCT ID: NCT03759639

Last Updated: 2023-11-28

Results Overview

The Clinical Impression of Change in Severity assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or 8 Meter Walk Test (8MWT) changed (improved or worsened) in 6-weeks as observed in the second video?' The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

33 participants

Primary outcome timeframe

CI-CS comparing Baseline (Day 1) with IB1001 versus the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) versus the end of 6-weeks post-treatment washout

Results posted on

2023-11-28

Participant Flow

All patients began treatment with N-Acetyl-L-Leucine (IB1001) in this open label study schema. The post-treatment washout period followed the IB1001 treatment period.

Participant milestones

Participant milestones
Measure
Parent Study
6-weeks treatment with IB1001 administered orally. Extension Phase: 1-year treatment with IB1001 administered orally. Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old will receive weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg will take 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg will take 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg will take 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Treatment With IB1001
STARTED
33
Treatment With IB1001
COMPLETED
31
Treatment With IB1001
NOT COMPLETED
2
Post-Treatment Washout
STARTED
31
Post-Treatment Washout
COMPLETED
31
Post-Treatment Washout
NOT COMPLETED
0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

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

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Parent Study
n=33 Participants
All patients were first dosed with IB1001. Therefore, the baseline characteristics of patients dosed in the first IB1001 treatment period in the parent study constitute the baseline characteristics for the entire study.
Age, Continuous
28.2 years
STANDARD_DEVIATION 15.1 • n=5 Participants
Sex: Female, Male
Female
10 Participants
n=5 Participants
Sex: Female, Male
Male
23 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Hispanic or Latino
0 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Not Hispanic or Latino
31 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Unknown or Not Reported
2 Participants
n=5 Participants
Region of Enrollment
United States
2 participants
n=5 Participants
Region of Enrollment
United Kingdom
10 participants
n=5 Participants
Region of Enrollment
Slovakia
4 participants
n=5 Participants
Region of Enrollment
Germany
7 participants
n=5 Participants
Region of Enrollment
Spain
10 participants
n=5 Participants
Miglustat at Baseline
Miglustat at Baseline
30 Participants
n=5 Participants
Miglustat at Baseline
No Miglustat at Baseline
3 Participants
n=5 Participants

PRIMARY outcome

Timeframe: CI-CS comparing Baseline (Day 1) with IB1001 versus the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) versus the end of 6-weeks post-treatment washout

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both).

The Clinical Impression of Change in Severity assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or 8 Meter Walk Test (8MWT) changed (improved or worsened) in 6-weeks as observed in the second video?' The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021]
0.86 score on a scale
Standard Deviation 2.52

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment);End of treatment with IB1001 to the end of post 6-week treatment washout

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at east one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants.

The Clinical Impression of Change in Severity assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or 8 Meter Walk Test (8MWT) changed (improved or worsened) in 6-weeks as observed in the second video?' The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Key Secondary Endpoint: Individual Components of the CI-CS
Treatment with IB1001
0.48 score on a scale
Standard Deviation 1.34
Key Secondary Endpoint: Individual Components of the CI-CS
Post-Treatment Washout
-0.38 score on a scale
Standard Deviation 1.45

SECONDARY outcome

Timeframe: CI-CS comparing baseline period and end of treatment period minus the change in CI-S between end of treatment period and end of washout period.

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period(Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both).

The Clinical Impression of Change in Severity assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or 8 Meter Walk Test (8MWT) changed (improved or worsened) in 6-weeks as observed in the second video?' The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Key Secondary Endpoint: Change in Severity Based on Average CI-S
0.08 score on a scale
Standard Deviation 1.12

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment);End of treatment with IB1001 to the end of post 6-week treatment washout

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period(Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 32 participants had values for the CI-CS Score Reclassified on a 3-Point Scale analysis in the Treatment with IB1001 period and 28 participants in the Post-Treatment washout period

The Clinical Impression of Change in Severity assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or8 Meter Walk Test (8MWT) changed (improved or worsened) in 6-weeks as observed in the second video?' The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse). CI-CS scores \<0 were reclassified as worsened (-1), CI-CS scores 0 remained classified as not changed (0), and CI-CS scores \>0 were reclassified as improved (+1).

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Treatment with IB1001 · -1 (Worsened)
9 Participants
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Treatment with IB1001 · 0 (No observable Change)
3 Participants
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Treatment with IB1001 · +1 (Improved)
20 Participants
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Post-treatment washout · -1 (Worsened)
16 Participants
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Post-treatment washout · 0 (No observable Change)
2 Participants
Key Secondary Endpoint: CI-CS Score Reclassified on a 3-Point Scale
Post-treatment washout · +1 (Improved)
10 Participants

SECONDARY outcome

Timeframe: CI-CS of the non-primary anchor test was evaluated, comparing the CI-CS of Visit 4 versus Visit 2 and of Visit 6 versus Visit 4 as done for the primary anchor test.

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 30 participants had values for the SCAFI Total score analysis in the Treatment with IB1001 period and 26 participants in the Post-Treatment washout period

The Clinical Impression of Change in Severity is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Key Secondary Endpoint: CI-CS Score for the Non-Primary Anchor Test
Treatment with IB1001
-0.20 score on a scale
Standard Deviation 1.41
Key Secondary Endpoint: CI-CS Score for the Non-Primary Anchor Test
Post-treatment washout
0.15 score on a scale
Standard Deviation 1.40

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: Modified Intention to Treat (mITT) Analysis Set - Defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 30 participants had values for the SCAFI Total score analysis in the Treatment with IB1001 period and 26 participants in the Post-Treatment washout period

Spinocerebellar Ataxia Functional Index (SCAFI) is composed of 8 Meter Walk Test, 9-Hole Peg Test of Dominant and Non-Dominant Hand (9HPT-D/9HPT-ND) (the 3 tests are timed assessments; each is done twice and values are averaged; the 8MWT and 9HPT-D and 9HPT-ND values are converted from times to rates, and the results expressed as a composite Z-score of each test relative to baseline) and the PATA rate (counted number how often a patient can repeat the syllables "PATA" within 10 seconds), a measure of speech performance. The scores of these 3 were transformed to Z-scores (=individual's average of both trials to perform the respective task - mean of study population at baseline) / SD of study population at baseline). A Z-score of 0 equates to the population mean at baseline. For all 3, higher Z-scores (above mean) mean better performance. The SCAFI total score was calculated as the arithmetic mean of the non-missing Z-scores for the 3. A higher total score means better performance.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Spinocerebellar Ataxia Functional Index (SCAFI) [Schmitz-Hübsch et al, 2008]
Treatment with IB1001
0.0995 Z-scores
Standard Deviation 0.3058
Spinocerebellar Ataxia Functional Index (SCAFI) [Schmitz-Hübsch et al, 2008]
Post-treatment washout
0.0076 Z-scores
Standard Deviation 0.3584

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 31 participants had values for the SARA analysis in the Treatment with IB1001 period and 28 participants in the Post-Treatment washout period.

The Scale for Assessment and Rating of Ataxia has 8 items that are related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements, and heel-shin test. The range is 0-40 points, with a lower score representing neurological improvement and a higher score representing neurological worsening.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Scale for Assessment and Rating of Ataxia (SARA) Score [Schmitz-Hübsch et al, 2006; Subramony, 2007]
Treatment with IB1001
-1.19 score on a scale
Standard Deviation 2.02
Scale for Assessment and Rating of Ataxia (SARA) Score [Schmitz-Hübsch et al, 2006; Subramony, 2007]
Post-treatment washout
1.45 score on a scale
Standard Deviation 2.56

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 26 participants had values for the EQ-5D analysis in the Treatment with IB1001 period and 26 participants in the Post-Treatment washout period.

For posting, health-related quality of life based on the EQ-5D visual analogue scale (VAS) was presented as a secondary endpoint. EQ-5D VAS is a 0-100 scale where patients are asked to indicate their overall health, with a score of 0 indicating worst health and a score of 100 indicating best health.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale: Visual Analogue Scale (VAS)
Treatment with IB1001
72.7 score on a scale
Standard Deviation 19.3
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale: Visual Analogue Scale (VAS)
Post-Treatment Washout
68.5 score on a scale
Standard Deviation 17.7

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 31 participants had values for the mDRS analysis in the Treatment with IB1001 period and 28 participants in the Post-Treatment washout period.

Overall neurological status based on six domains (ambulation, manipulation, language, swallowing, seizures and ocular movements). The Modified Disability Rating Scale ranges from 0-24, where 0 is the best neurological status and 24 is the worst.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Modified Disability Rating Scale (mDRS) [Iturriaga et al. 2006]
Treatment with IB1001
-0.012 units on a scale
Standard Deviation 0.050
Modified Disability Rating Scale (mDRS) [Iturriaga et al. 2006]
Post-Treatment Washout
0.016 units on a scale
Standard Deviation 0.051

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 31 participants had values for the Investigator's CGI-C analysis in the Treatment with IB1001 period and 28 participants in the Post-Treatment washout period.

The Clinical Global Impression of Change assessed by the investigator is evaluated on a 7 point Likert scale ranging from 1='very much improved' to 7='very much worse'

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Investigator's Clinical Global Impressions of Change (CGI-C)
Treatment with IB1001
3.4 score on a scale
Standard Deviation 0.9
Investigator's Clinical Global Impressions of Change (CGI-C)
Post-Treatment Washout
4.5 score on a scale
Standard Deviation 0.9

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 30 participants had values for the Parent/Caregiver's CGI-C analysis in the Treatment with IB1001 period and 27 participants in the Post-Treatment washout period.

The Clinical Global Impression of Change assessed by the parent/caregiver is evaluated on a 7 point Likert scale ranging from 1='very much improved' to 7='very much worse'.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Parent/Caregiver's Clinical Global Impression of Change (CGI-C)
Treatment With IB1001
3.4 score on a scale
Standard Deviation 1.0
Parent/Caregiver's Clinical Global Impression of Change (CGI-C)
Post-Treatment Washout
4.4 score on a scale
Standard Deviation 1.1

SECONDARY outcome

Timeframe: Baseline to end of treatment with IB1001 (Parent Study 6-weeks treatment); End of treatment with IB1001 to the end of post 6-week treatment washout

Population: The Modified Intention to Treat (mITT) analysis set was defined as all patients who receive at least one dose of the study drug and with one video recording during the baseline period (Visit 1 or 2, or both) and treatment period (Visit 3 or Visit 4, or both). The overall mITT comprised 32 participants. Of these, 25 participants had values for the Patient's CGI if Able analysis in the Treatment with IB1001 period and 25 participants in the Post-Treatment washout period.

The Clinical Global Impression of Change assessed by the patient (if able) is evaluated on a 7 point Likert scale ranging from 1='very much improved' to 7='very much worse'.

Outcome measures

Outcome measures
Measure
Parent Study
n=32 Participants
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old received a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old received weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg took 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg took 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg took 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered. After the 6-week treatment period, patients entered a 6-week post-treatment washout period.
Patient's Clinical Global Impressions (CGI) if Able
Post-Treatment Washout
4.3 score on a scale
Standard Deviation 0.9
Patient's Clinical Global Impressions (CGI) if Able
Treatment With IB1001
3.3 score on a scale
Standard Deviation 1.0

Adverse Events

Treatment With IB1001

Serious events: 4 serious events
Other events: 11 other events
Deaths: 0 deaths

Post-Treatment Washout

Serious events: 0 serious events
Other events: 5 other events
Deaths: 0 deaths

Serious adverse events

Serious adverse events
Measure
Treatment With IB1001
n=33 participants at risk
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old will receive weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg will take 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg will take 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg will take 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered.
Post-Treatment Washout
n=31 participants at risk
After the Parent Study 6-week treatment period, patients entered a 6-week post-treatment washout period.
Injury, poisoning and procedural complications
Rib Fracture
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Injury, poisoning and procedural complications
Head Injury
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Injury, poisoning and procedural complications
Fall
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Infections and infestations
Upper respiratory tract infection
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Infections and infestations
Lower respiratory tract infections
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Metabolism and nutrition disorders
Dehydration
3.0%
1/33 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).

Other adverse events

Other adverse events
Measure
Treatment With IB1001
n=33 participants at risk
Parent Study: 6-weeks treatment with IB1001 administered orally. Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old will receive weight-tiered doses: * Patients aged 6-12 years weighing 15 to \<25 kg will take 2 g per day: 1 g in the morning and 1 g in the evening. * Patients aged 6-12 years weighing 25 to \<35 kg will take 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. * Patients aged 6-12 years weighing ≥35 kg will take 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) IB1001: IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered.
Post-Treatment Washout
n=31 participants at risk
After the Parent Study 6-week treatment period, patients entered a 6-week post-treatment washout period.
Infections and infestations
Rhinitis
6.1%
2/33 • Number of events 2 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
3.2%
1/31 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Nervous system disorders
Seizure
9.1%
3/33 • Number of events 3 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
3.2%
1/31 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Gastrointestinal disorders
Diarrhoea
9.1%
3/33 • Number of events 4 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
3.2%
1/31 • Number of events 1 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Respiratory, thoracic and mediastinal disorders
Epistaxis
6.1%
2/33 • Number of events 2 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Skin and subcutaneous tissue disorders
Rash pruritic
6.1%
2/33 • Number of events 2 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
0.00%
0/31 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
Skin and subcutaneous tissue disorders
Rash
0.00%
0/33 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).
6.5%
2/31 • Number of events 2 • From signing of the informed consent form through to End of Study (Day 84, scheduled at 42 days post last IB1001 dose).
AEs/SAEs consistent with the definition from ClinicalTrial.Gov. AEs/SAEs were collected in accordance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use Good Clinical Practice (ICH-GCP).

Additional Information

Taylor Fields, Chief Product Development Officer

IntraBio Ltd

Phone: +44 8081 641283

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place