Safety and Proof-of-Concept (POC) Study With AMT-130 in Adults With Early Manifest Huntington's Disease

NCT ID: NCT04120493

Last Updated: 2025-10-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

43 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-09-06

Study Completion Date

2029-12-31

Brief Summary

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This is the first study of AMT-130 in patients with early manifest HD and is designed to establish safety and proof-of-concept (PoC). CT-AMT-130-01 is a Phase 1/2, multicenter, first-in-human (FIH) study. The first three cohorts of the study have completed enrollment, including the randomized, double-blind, sham-controlled cohorts. Cohort 4 is open-label.

Cohort 4 participants will receive high dose AMT-130.

Detailed Description

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AMT-130 is an investigational, single administration gene therapy intended to modify the disease course for HD. Preclinical studies have shown that AMT-130 lowers huntingtin protein and is associated with decreased progression of Huntington's Disease signs in animal models.

Cohort 1, 2, and 3 evaluated low dose and high dose AMT-130.

Cohort 4 will further evaluate the safety of high dose AMT-130 in participants with low striatal volume. All participants in Cohort 4 will receive high dose AMT-130 and will receive pre- and post-operative dexamethasone.

Cohorts 1 and 2 participants continue follow-up visits through 6 years after receipt of AMT-130. Cohorts 3 and 4 participants continue follow-up visits through 5 years after receipt of AMT-130.

Conditions

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Huntington's Disease

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cohort 1

Low dose rAAV5-miHTT (6x10\^12 gc/subject).

Note: gc = genome copies

Group Type EXPERIMENTAL

intra-striatal rAAV5-miHTT

Intervention Type GENETIC

One time MRI-guided stereotaxic infusion of rAAV5-miHTT into the brain

Cohort 2

High dose rAAV5-miHTT (6x10\^13 gc/subject).

Group Type EXPERIMENTAL

intra-striatal rAAV5-miHTT

Intervention Type GENETIC

One time MRI-guided stereotaxic infusion of rAAV5-miHTT into the brain

Cohorts 1, 2

Imitation (sham) surgery

Group Type SHAM_COMPARATOR

Imitation (sham) surgery

Intervention Type OTHER

Simulated surgical procedure with skin incisions only; no intrastriatal injections and no burr holes through the skull

Cohort 3

Low dose rAAV5-miHTT (6x10\^12 gc/subject).

High dose rAAV5-miHTT (6x10\^13 gc/subject).

Group Type EXPERIMENTAL

intra-striatal rAAV5-miHTT

Intervention Type GENETIC

One time MRI-guided stereotaxic infusion of rAAV5-miHTT into the brain

Cohort 4

High dose rAAV5-miHTT (6x10\^13 gc/subject).

Group Type EXPERIMENTAL

intra-striatal rAAV5-miHTT

Intervention Type GENETIC

One time MRI-guided stereotaxic infusion of rAAV5-miHTT into the brain

Interventions

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intra-striatal rAAV5-miHTT

One time MRI-guided stereotaxic infusion of rAAV5-miHTT into the brain

Intervention Type GENETIC

Imitation (sham) surgery

Simulated surgical procedure with skin incisions only; no intrastriatal injections and no burr holes through the skull

Intervention Type OTHER

Other Intervention Names

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AMT-130

Eligibility Criteria

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Inclusion Criteria

* Able and willing to provide written informed consent prior to the study and study-related procedure
* Participants 25 to 65 years of age of both sexes
* Cohorts 1, 2, \& 4: Early manifest HD as defined by a UHDRS total functional capacity (TFC) score of 9 to 13 and EITHER a diagnostic confidence level (DCL) of 4 OR a DCL of 3 if the subject either meets the definition of multidimensional manifest HD (UHDRS question 80) or has cognitive symptoms
* Cohort 3: Early manifest HD as defined by a UHDRS TFC score of ≥ 11 and EITHER a DCL of 4 or a DCL of 3 with either a positive "Yes" response to UHDRS Question 80 (multidimensional manifest diagnosis on motor, cognitive, behavioral, functional) or DSM5 criteria for cognitive disorder (Movement Disorder Society Task Force criteria).
* HTT gene expansion testing with the presence of ≥40 CAG repeats
* Striatal MRI volume requirements per hemisphere:
* Cohorts 1, 2, \& 3: Putamen ≥2.5 cm\^3 (per side); Caudate ≥2.0 cm\^3 (per side)
* Cohort 4: Putamen \<2.5 cm\^3 (on either side); Caudate \<2.0 cm\^3 (on either side)
* All HD concomitant medications (addressing motor, behavioral, and cognitive symptoms) must be stable for 3 months prior to Screening with no change in clinical symptoms requiring change in medication prior to anticipated administration procedure
* Able and willing to comply with all procedures and the study visit schedule as outlined in the protocol
* All female participants of childbearing potential (FOCP) must have a negative serum pregnancy test at Screening, (and Visit 1A, as appropriate), a negative pregnancy urine dipstick at Baseline, and not be breastfeeding. All FOCPs and sexually mature males must be compliant with a highly effective birth control method.

Exclusion Criteria

* Evidence of suicide risk
* Receipt of an experimental agent within 60 days or five half-lives prior to Screening or anytime over the duration of this study.
* Participation in an investigational trial or investigational paradigm (such as exercise/physical activity, cognitive therapy, brain stimulation) within 60 days prior to Screening or anytime over the duration of this study.
* Presence of an implanted deep brain stimulation device, ventriculoperitoneal or other CSF shunt, or other implanted catheter
* Any history of gene therapy, RNA or DNA targeted HD specific investigational agents, such as antisense oligonucleotides (ASOs), cell transplantation or any other experimental brain surgery.
* Any contraindication to 3.0 Tesla MRI as per local guidelines
* Brain and spinal pathology that may interfere with the surgical delivery of AMT-130 or represents a significant neurologic comorbid disorder
* Any contraindication to lumbar puncture as per local guidelines
* Malignancy within 5 years of Screening, except for basal or squamous cell carcinoma of the skin or carcinoma in situ of the cervix that has been successfully treated
* Hospitalization for any major medical or surgical procedure involving general anesthesia within 12 weeks of Screening or planned during the study
* Current or recurrent disease, (including pre-existing cardiovascular or pulmonary conditions) infection, or other significant concurrent medical condition or medications that could confound clinical and laboratory evaluations or could affect a participant's safety or their ability to undergo the neurosurgical procedure or comply with the procedures and study visit schedule
* Known or suspected intolerance or hypersensitivity to the investigational product(s), closely-related compounds, or any of the stated ingredients
* Any known allergy to gadoteridol (ProHance)
* Screening laboratory values (as measured by the central laboratory): a. Alanine aminotransferase (ALT) \>2 × upper limit of normal (ULN) b. Aspartate aminotransferase (AST) \>2 × ULN c. Total bilirubin \>2 × ULN d. Alkaline phosphatase (ALP) \>2 × ULN e. Creatinine \>1.5 × ULN f. Platelet count \<100,000/mm3g.Prothrombin time (PT) \>1.2 × ULN h. Partial thromboplastin time (PTT) \>1.2 × ULN
* Known allergy, sensitivity, or other contraindication to medications in the immunosuppression regimen in this protocol.
* Any participant with an active infection (e.g., coronavirus disease 2019 \[COVID-19\]) at Screening or at the time of treatment that requires medical intervention. Participants may rescreen, or if screened eligible and an open surgical slot is available, may receive treatment after recovery.
* Cohort 4 ONLY: Inability to establish a safe trajectory to administer AMT-130 to the target structures, as assessed by neuroimaging.
Minimum Eligible Age

25 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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UniQure Biopharma B.V.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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David H. Margolin, MD, PhD

Role: STUDY_DIRECTOR

uniQure, Inc.

Locations

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University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status

University of Arizona (Surgical Site Only)

Tucson, Arizona, United States

Site Status

University of California, San Francisco

San Francisco, California, United States

Site Status

CenExel Rocky Mountain Clinical Research

Englewood, Colorado, United States

Site Status

Rush University Medical Center

Chicago, Illinois, United States

Site Status

Johns Hopkins University

Baltimore, Maryland, United States

Site Status

University of Michigan Department of Neurology

Ann Arbor, Michigan, United States

Site Status

Ohio State University

Columbus, Ohio, United States

Site Status

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status

The University of Texas

Houston, Texas, United States

Site Status

Virginia Commonwealth University VCU School of Medicine, Department of Neurology

Richmond, Virginia, United States

Site Status

University of Washington Medical Center

Seattle, Washington, United States

Site Status

Countries

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United States

References

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Pala M, Yilmaz SG. Circular RNAs, miRNAs, and Exosomes: Their Roles and Importance in Amyloid-Beta and Tau Pathologies in Alzheimer's Disease. Neural Plast. 2025 Apr 8;2025:9581369. doi: 10.1155/np/9581369. eCollection 2025.

Reference Type DERIVED
PMID: 40235521 (View on PubMed)

Estevez-Fraga C, Tabrizi SJ, Wild EJ. Huntington's Disease Clinical Trials Corner: March 2024. J Huntingtons Dis. 2024;13(1):1-14. doi: 10.3233/JHD-240017.

Reference Type DERIVED
PMID: 38489195 (View on PubMed)

Estevez-Fraga C, Tabrizi SJ, Wild EJ. Huntington's Disease Clinical Trials Corner: November 2022. J Huntingtons Dis. 2022;11(4):351-367. doi: 10.3233/JHD-229006.

Reference Type DERIVED
PMID: 36463457 (View on PubMed)

Rodrigues FB, Wild EJ. Huntington's Disease Clinical Trials Corner: April 2020. J Huntingtons Dis. 2020;9(2):185-197. doi: 10.3233/JHD-200002.

Reference Type DERIVED
PMID: 32250312 (View on PubMed)

Other Identifiers

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CT-AMT-130-01

Identifier Type: -

Identifier Source: org_study_id

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