Huntington DiseasePhase 1/2NCT06826612
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
A Phase 1/2 study testing SPK-10001 in people with Huntington Disease, run by Hoffmann-La Roche at 5 sites in United States.
Trial summary
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease. Read more about this study
- Who is it for?
- Ages 25 to 65 years
- Conditions the study is for
- Huntington Disease
- What is being tested?
- SPK-10001
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 53 participants
- Where
- 5 sitesUnited States
- Study dates
- 21 Feb 2025to 12 Jan 2035
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 25 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Have confirmed huntingtin (HTT) cytosine-adenine-guanine (CAG) repeat length ≥40 on genetic testing and confirmation diagnostic test by the central laboratory (CL) at screening.
- Have striatal atrophy demonstrated by caudate/intracranial volume less than the age-adjusted cutoff values associated with HDISS Stage 1.
- Have UHDRS Total Motor Score (TMS) equal to or greater than the age-adjusted cutoff value associated with HDISS Stage 2.
- Have UHDRS Total Functional Capacity (TFC) greater than or equal to 11.
- Use of cholinesterase inhibitors, memantine, amantadine, or riluzole must have been at stable dosing for at least 12 weeks before screening and baseline and anticipated to remain stable during the first 12 months after SPK-10001 administration.
- Antidepressant or benzodiazepine use must have been at stable dosing for at least 12 weeks before screening and baseline and anticipated to remain stable during the first 12 months after SPK-10001 administration.
- Antipsychotics for motor symptoms or mood stabilization (i.e., irritability or aggressive behavior) and/or tetrabenazine, valbenazine, or deutetrabenazine must have been at a stable dose for at least 12 weeks before screening and baseline and are anticipated to remain stable during the first 12 months after SPK-10001 administration.
Who cannot join
- A safe trajectory is not able to be identified for targeting placement of the cannula into the caudate or putamen on both sides of the brain due to extent of atrophy or other anatomical features.
- Have received an antisense oligonucleotide therapy during the past year.
- History of deep brain stimulation.
- History of or intention to undergo gene therapy, cell transplantation, or brain surgery during the course of the study.
- Have participated in an investigational drug study with a systemic administration within 6 weeks or 5 half-lives of screening, whichever is longer.
- Additional protocol-defined inclusion/exclusion criteria apply.
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Reference Study ID Number: SPK-10001-101 https://forpatients.roche.com/ contact
5 sites in 1 country
United States5 sites, 5 recruiting
- Recruiting
Beth Israel Deaconess Medical Center
Boston, Massachusetts, 02215
- Recruiting
University of Cincinnati/Cincinnati Children's Hospital
Cincinnati, Ohio, 45221
- Recruiting
Ohio State University
Columbus, Ohio, 43221
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19107
- Recruiting
University of Pittsburg
Pittsburgh, Pennsylvania, 15213
About this study
Official title: A Phase 1/2, Randomized, Sequential, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a One-Time, Bilateral, Intraparenchymal Infusion of SPK-10001 Into the Caudate and Putamen in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Conditions
- Huntington Disease
- Being tested
- SPK-10001, Placebo Surgery Control
- Keywords
- Huntington's Disease, SPK-10001, Adult-onset HD, HD, Rare Disease, Chorea, Movement Disorder, Spark Therapeutics, Cognition, Gene Therapy, AAV, mHTT
- Medical subject headings
- Huntington Disease, Rare Diseases, Chorea, Movement Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SPK-10001Genetic
Specified dose on specified days
Placebo Surgery ControlOther
Placebo Surgery procedure for SPK-10001
| Study group | Role | What they receive |
|---|---|---|
| SPK-10001 | Experimental | Not described Receives: Genetic: SPK-10001 |
| Placebo Surgery Control | Other | Not described Receives: Other: Placebo Surgery Control |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with Treatment-emergent Adverse Events (TEAEs)
Measured: Day 1 up to approximately 5 years
Severity of TEAEs
Measured: Day 1 up to approximately 5 years
Change from Baseline in Unified Huntington's Disease Rating Scale (UHDRS®) Total Functional Capacity (TFC) Score
Measured: Baseline, Month 24
Secondary outcomes (3)
Change from Baseline in Motor Symptom Progression Based on Huntington's Disease Digital Motor Score (HDDMS)
Measured: Baseline, Months 12, 18, and 24
Change from Baseline in Composite UHDRS (cUHDRS) Score
Measured: Baseline, Months 12, 18, and 24
Change from Baseline in UHDRS TFC Score
Measured: Baseline, Months 12 and 18
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Feb 2025
- Study start21 Feb 2025
- Primary completion12 Jan 2035 (estimated)
- Study completion12 Jan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- More trials run by Hoffmann-La RocheThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Model description
- The study will be conducted in 4 sequential parts. * Part A is an open-label cohort in which all participants will receive SPK-10001. * Part B is randomized, double-blind and placebo-surgery-controlled. * Part C is a crossover open-label portion where participants who received placebo-surgery control in Part B will receive SPK-10001. * Part D is long term follow-up after completion of active treatment in any of Parts A, B, or C.
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 53 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hoffmann-La Roche
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trials, Study director, Hoffmann-LaRoche
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06826612
- Sponsor's protocol ID
- SPK-10001-101
- Other IDs
- XN45617
- Status last verified
- Apr 2026
- First submitted
- 3 Feb 2025
- Last updated
- 5 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2, Randomized, Sequential, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a One-Time, Bilateral, Intraparenchymal Infusion of SPK-10001 Into the Caudate and Putamen in Participants With Huntington's Disease
- ClinicalTrials.gov ID
- NCT06826612
- Acronym / sponsor ID
- SPK-10001-101
- Conditions
- Huntington Disease
- Keywords
- Huntington's Disease, SPK-10001, Adult-onset HD, HD, Rare Disease, Chorea, Movement Disorder, Spark Therapeutics
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 53 participants (estimated)
- Lead sponsor
- Hoffmann-La RocheIndustry (pharma, biotech, devices)
- Study start
- 21 Feb 2025 (actual)
- Primary completion
- 12 Jan 2035 (estimated)
- Study completion
- 12 Jan 2035 (estimated)
- First posted
- 14 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
- Model description
- The study will be conducted in 4 sequential parts. * Part A is an open-label cohort in which all participants will receive SPK-10001. * Part B is randomized, double-blind and placebo-surgery-controlled. * Part C is a crossover open-label portion where participants who received placebo-surgery control in Part B will receive SPK-10001. * Part D is long term follow-up after completion of active treatment in any of Parts A, B, or C.
| Arm | Type | Receives |
|---|---|---|
| SPK-10001 | Experimental | Genetic: SPK-10001 |
| Placebo Surgery Control | Other | Other: Placebo Surgery Control |
Who may qualify
- Ages
- 25 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- Have confirmed huntingtin (HTT) cytosine-adenine-guanine (CAG) repeat length ≥40 on genetic testing and confirmation diagnostic test by the central laboratory (CL) at screening.
- Have striatal atrophy demonstrated by caudate/intracranial volume less than the age-adjusted cutoff values associated with HDISS Stage 1.
- Have UHDRS Total Motor Score (TMS) equal to or greater than the age-adjusted cutoff value associated with HDISS Stage 2.
- Have UHDRS Total Functional Capacity (TFC) greater than or equal to 11.
- Use of cholinesterase inhibitors, memantine, amantadine, or riluzole must have been at stable dosing for at least 12 weeks before screening and baseline and anticipated to remain stable during the first 12 months after SPK-10001 administration.
Key exclusion criteria (6 listed)
- A safe trajectory is not able to be identified for targeting placement of the cannula into the caudate or putamen on both sides of the brain due to extent of atrophy or other anatomical features.
- Have received an antisense oligonucleotide therapy during the past year.
- History of deep brain stimulation.
- History of or intention to undergo gene therapy, cell transplantation, or brain surgery during the course of the study.
- Have participated in an investigational drug study with a systemic administration within 6 weeks or 5 half-lives of screening, whichever is longer.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SPK-10001Specified dose on specified days | Genetic | SPK-10001 |
| Placebo Surgery ControlPlacebo Surgery procedure for SPK-10001 | Other | Placebo Surgery Control |
Primary outcome
Number of Participants with Treatment-emergent Adverse Events (TEAEs)
Time frame: Day 1 up to approximately 5 years
Severity of TEAEs
Time frame: Day 1 up to approximately 5 years
Change from Baseline in Unified Huntington's Disease Rating Scale (UHDRS®) Total Functional Capacity (TFC) Score
Time frame: Baseline, Month 24
3 secondary outcomes
Change from Baseline in Motor Symptom Progression Based on Huntington's Disease Digital Motor Score (HDDMS)
Time frame: Baseline, Months 12, 18, and 24
Change from Baseline in Composite UHDRS (cUHDRS) Score
Time frame: Baseline, Months 12, 18, and 24
Change from Baseline in UHDRS TFC Score
Time frame: Baseline, Months 12 and 18
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Reference Study ID Number: SPK-10001-101 https://forpatients.roche.com/ contact
Clinical Trials study director
Hoffmann-LaRoche
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing SPK-10001 in people with Huntington Disease, run by Hoffmann-La Roche at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Reference Study ID Number: SPK-10001-101 https://forpatients.roche.com/ (888-662-6728, global-roche-genentech-trials@gene.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with Treatment-emergent Adverse Events (TEAEs) (time frame: Day 1 up to approximately 5 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 May 2026.