Trial Outcomes & Findings for Study to Measure Cerebrospinal Fluid Mutant Huntingtin Protein in Participants With Early Manifest Stage I or Stage II Huntington's Disease (NCT NCT03664804)

NCT ID: NCT03664804

Last Updated: 2025-01-03

Results Overview

The reported data are as follows: cUHDRS = composite Unified Huntington's Disease Rating Scale; TFC = Total Functional; Capacity Scale; TMS = Total Motor; Scale; SDMT = Symbol Digit Modalities Test; SWR = Stroop Word Reading; IS = Independence Scale. cUHDRS: score range from -3.06 (worst) to not defined maximum (best); Stroop Word Reading Test: score range not defined, higher scores indicate better cognitive performance; Symbol Digit Modalities Test: score range from 0 (worst) to 110 (best); Total Functional Capacity: score range from 0 (worst) to 13 (best); Total Motor Scale: score range from 0 (best) to 124 (worst). Data at Month 3, 9, and 15 are reported respectively

Recruitment status

COMPLETED

Study phase

PHASE1

Target enrollment

95 participants

Primary outcome timeframe

Baseline to 15 Months

Results posted on

2025-01-03

Participant Flow

A total of 93 patients (97.9%) were included in the safety population and the intent-to-treat (ITT) population. Two patients were excluded from both the analysis populations as the patients had discontinued the study.

Out of 95 participants recruited, 2 were withdrawn before the study intervention.

Participant milestones

Participant milestones
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
No study drug was administered in this study
Overall Study
STARTED
95
Overall Study
COMPLETED
88
Overall Study
NOT COMPLETED
7

Reasons for withdrawal

Reasons for withdrawal
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
No study drug was administered in this study
Overall Study
Withdrawal by Subject
7

Baseline Characteristics

Out of 95 recruited baseline population, 2 were withdrawn before the study intervention

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
n=95 Participants
No study drug was administered in this study
Age, Continuous
48.1 Years
STANDARD_DEVIATION 9.9 • n=5 Participants • Out of 95 recruited baseline population, 2 were withdrawn before the study intervention
Sex: Female, Male
Female
36 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Sex: Female, Male
Male
59 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Ethnicity (NIH/OMB)
Hispanic or Latino
3 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Ethnicity (NIH/OMB)
Not Hispanic or Latino
92 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Ethnicity (NIH/OMB)
Unknown or Not Reported
0 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
Asian
1 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
Black or African American
1 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
White
89 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
More than one race
0 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.
Race (NIH/OMB)
Unknown or Not Reported
4 Participants
n=5 Participants • Out of 95 recruited participants, 2 were withdrawn before the study intervention.

PRIMARY outcome

Timeframe: Baseline to 15 Months

Population: ITT Population

The reported data are as follows: cUHDRS = composite Unified Huntington's Disease Rating Scale; TFC = Total Functional; Capacity Scale; TMS = Total Motor; Scale; SDMT = Symbol Digit Modalities Test; SWR = Stroop Word Reading; IS = Independence Scale. cUHDRS: score range from -3.06 (worst) to not defined maximum (best); Stroop Word Reading Test: score range not defined, higher scores indicate better cognitive performance; Symbol Digit Modalities Test: score range from 0 (worst) to 110 (best); Total Functional Capacity: score range from 0 (worst) to 13 (best); Total Motor Scale: score range from 0 (best) to 124 (worst). Data at Month 3, 9, and 15 are reported respectively

Outcome measures

Outcome measures
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
n=93 Participants
No study drug was administered in this study
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Composite UHDRS (cUHDRS) Month 3
0.19 Scores on a scale
Standard Deviation 1.08
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Composite UHDRS (cUHDRS) Month 9
-0.12 Scores on a scale
Standard Deviation 1.24
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Composite UHDRS (cUHDRS) Month 15
-0.76 Scores on a scale
Standard Deviation 1.49
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Functional Capacity (TFC) Month 3
-0.24 Scores on a scale
Standard Deviation 0.89
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Functional Capacity (TFC) Month 9
-0.33 Scores on a scale
Standard Deviation 1.31
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Functional Capacity (TFC) Month 15
-1.10 Scores on a scale
Standard Deviation 1.60
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Motor Score (TMS) Month 3
1.38 Scores on a scale
Standard Deviation 5.73
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Motor Score (TMS) Month 9
2.78 Scores on a scale
Standard Deviation 8.36
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Total Motor Score (TMS) Month 15
6.53 Scores on a scale
Standard Deviation 9.93
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Symbol Digit Modalities Test (SDMT) Month 3
2.83 Scores on a scale
Standard Deviation 7.16
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Symbol Digit Modalities Test (SDMT) Month 9
2.07 Scores on a scale
Standard Deviation 7.33
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Symbol Digit Modalities Test (SDMT) Month 15
1.92 Scores on a scale
Standard Deviation 6.97
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Stroop Word Reading Test (SWRT) Month 3
2.52 Scores on a scale
Standard Deviation 12.58
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Stroop Word Reading Test (SWRT) Month 9
-0.24 Scores on a scale
Standard Deviation 11.86
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
Stroop Word Reading Test (SWRT) Month 15
-3.16 Scores on a scale
Standard Deviation 11.67
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Independence Scale (IS) Month 3
-1.24 Scores on a scale
Standard Deviation 5.45
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Independence Scale (IS) Month 9
-2.56 Scores on a scale
Standard Deviation 7.07
Change From Baseline in the Following Clinical Endpoints at 3, 9, and 15 Months: cUHDRS, TFC, TMS, SDMT, SWR Test and IS
UHDRS Independence Scale (IS) Month 15
-4.27 Scores on a scale
Standard Deviation 8.34

PRIMARY outcome

Timeframe: Baseline to 15 Months

Population: ITT Population

The reported date appreciations are as follows: CSF = Cerebrospinal Fluid; NfL = Neurofilament Light Chain. An overview of percentage change from baseline in geometric means for CSF tau and CSF NfL, and CSF YKL-40 are reported

Outcome measures

Outcome measures
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
n=93 Participants
No study drug was administered in this study
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
Tau Month 3
1.759 Percent Change
Interval -2.927 to 6.671
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
Tau Month 9
3.731 Percent Change
Interval -1.96 to 9.751
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
Tau Month 15
10.097 Percent Change
Interval 1.283 to 19.678
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
NfL Month 3
-0.052 Percent Change
Interval -2.614 to 2.578
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
NfL Month 9
4.035 Percent Change
Interval -0.149 to 8.395
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
NfL Month 15
5.971 Percent Change
Interval 1.629 to 10.499
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
YKL-40 Month 3
-0.763 Percent Change
Interval -3.268 to 1.806
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
YKL-40 Month 9
1.026 Percent Change
Interval -2.112 to 4.263
Change From Baseline in Biomarkers of Neuronal Injury (CSF NfL and Tau) at 3, 9, and 15 Months
YKL-40 Month 15
6.590 Percent Change
Interval 0.162 to 13.431

PRIMARY outcome

Timeframe: Baseline to 15 Months

Population: ITT Population

Data for Least Square (LS) mean percentage change from baseline to Months 3, 9, and 15 for ventricular volume, caudate volume, and whole brain volume, based on boundary shift integrals (BSIs) are reported

Outcome measures

Outcome measures
Measure
Participants With Early Manifest Stage I or II Huntington's Disease (HD)
n=93 Participants
No study drug was administered in this study
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Caudate Volume Month 3
1.345 Percentage change
Interval 0.875 to 1.815
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Caudate Volume Month 9
2.811 Percentage change
Interval 2.285 to 3.337
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Caudate Volume Month 15
4.806 Percentage change
Interval 4.057 to 5.554
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Ventricular Volume Month 3
2.662 Percentage change
Interval 2.016 to 3.308
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Ventricular Volume Month 9
5.124 Percentage change
Interval 4.132 to 6.115
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Ventricular Volume Month 15
9.622 Percentage change
Interval 8.195 to 11.05
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Whole Brain Volume Month 3
0.304 Percentage change
Interval 0.175 to 0.434
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Whole Brain Volume Month 9
0.513 Percentage change
Interval 0.346 to 0.681
Change From Baseline in Brain Atrophy Endpoints (Whole Brain Volume Decline, Caudate Volume Decline) as Determined by Brain MRI, at 3, 9, and 15 Months
Whole Brain Volume Month 15
1.332 Percentage change
Interval 1.062 to 1.603

SECONDARY outcome

Timeframe: Baseline to 15 Months

Population: No participants' data to report

mHTT=Mutant Huntingtin Protein. New stability information has revealed that all samples for this outcome measure were out of stability, leaving no valid data points. Therefore there is no data to report.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline to 15 Months

Population: No participants' data available

New stability information has revealed that all samples for this outcome measure were out of stability, leaving no valid data points. Therefore there is no data to report.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline to 15 Months

Population: No participants' data available

New stability information has revealed that all samples for this outcome measure were out of stability, leaving no valid data points. Therefore there is no data to report.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline to 15 Months

Population: No participants' data available

New stability information has revealed that all samples for this outcome measure were out of stability, leaving no valid data points. Therefore there is no data to report.

Outcome measures

Outcome data not reported

Adverse Events

NHS Participants With Early Manifest Stage I or II HD

Serious events: 0 serious events
Other events: 29 other events
Deaths: 29 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure
NHS Participants With Early Manifest Stage I or II HD
n=93 participants at risk
Participants with Early Manifest Stage I or II HD
General disorders
Puncture site pain
5.4%
5/93 • Number of events 5 • AE timeframe: From Baseline to 15 Months
There was no Serious Adverse Event to be reported. Non-Serious Adverse Events at the frequency threshold of 5% cut-off are reported below. Out of 95 recruited participants, 2 were withdrawn before the study intervention, therefore exluded.
Injury, poisoning and procedural complications
Post lumbar puncture syndrome
15.1%
14/93 • Number of events 19 • AE timeframe: From Baseline to 15 Months
There was no Serious Adverse Event to be reported. Non-Serious Adverse Events at the frequency threshold of 5% cut-off are reported below. Out of 95 recruited participants, 2 were withdrawn before the study intervention, therefore exluded.
Injury, poisoning and procedural complications
Procedural pain
7.5%
7/93 • Number of events 9 • AE timeframe: From Baseline to 15 Months
There was no Serious Adverse Event to be reported. Non-Serious Adverse Events at the frequency threshold of 5% cut-off are reported below. Out of 95 recruited participants, 2 were withdrawn before the study intervention, therefore exluded.
Nervous system disorders
Headache
9.7%
9/93 • Number of events 13 • AE timeframe: From Baseline to 15 Months
There was no Serious Adverse Event to be reported. Non-Serious Adverse Events at the frequency threshold of 5% cut-off are reported below. Out of 95 recruited participants, 2 were withdrawn before the study intervention, therefore exluded.

Additional Information

Medical Communications

Hoffmann-La Roche

Phone: 800 821-8590

Results disclosure agreements

  • Principal investigator is a sponsor employee The Study being conducted under this Agreement is part of the Overall Study. Investigator is free to publish in reputable journals or to present at professional conferences the results of the Study, but only after the first publication or presentation that involves the Overall Study. The Sponsor may request that Confidential Information be deleted and/or the publication be postponed in order to protect the Sponsor's intellectual property rights
  • Publication restrictions are in place

Restriction type: OTHER