Amyotrophic Lateral SclerosisPhase 1/2NCT05683860
Open-label Extension (OLE) Study of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD)
A Phase 1/2 study testing WVE-004 10 mg Q12W in people with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, run by Wave Life Sciences USA, Inc. at 3 sites in 2 countries.
Trial summary
This is an OLE study conducted to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and clinical effects of WVE-004 in adult participants with ALS, FTD, or mixed ALS/FTD phenotype with a documented mutation in the C9orf72 gene. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
- What is being tested?
- WVE-004 10 mg Q12W
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 14 Dec 2022to 27 Jun 2023
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Participants successfully completed the Phase 1b/2a study with WVE-004, WVE-004-001.
- Participant has the ability and is willing to provide informed consent prior to any study procedures. In instances where signed written informed consent is unable to be obtained it is acceptable for the participant to provide consent with legally authorized representative signing on the participant's behalf.
- In the opinion of the Investigator, the participant is able to tolerate all study procedures, is willing to comply with all other protocol requirements, and tolerated study drug in the parent study.
- Participant is willing to practice highly effective contraception for the duration of the study and for 5 months after the last dose of study drug if the participant or their partner are of childbearing potential. In addition, willingness to forego sperm or ova (egg) donation for the duration of the study and 5 months after completion of the study.
- Participant has identified a study partner(s) for the duration of the study.
Who cannot join
- Participant has a clinically significant medical finding on the physical examination other than C9orf72-associated ALS or FTD that, in the judgment of the Investigator or Sponsor, will make the participant unsuitable for participation in and/or completion of the trial procedures.
- Participant received any other investigational drug, biological agent, or device within 1 month or 5 half-lives of study agent, whichever is longer. Participant received an investigational oligonucleotide within the past 6 months or 5 half-lives of the drug, whichever is longer.
- Participant has a positive hepatitis B surface antigen or hepatitis C antibody test.
- Participant who are pregnant (as determined by a serum pregnancy test) or breast feeding at the Screening visit, or plans to become pregnant during the trial.
- Participants deemed to be at significant risk for suicidal behavior, based on Investigator assessment and/or active suicidal ideation.
- Participant has a bone, spine, bleeding (e.g., hemophilia, Von Willebrand disease, or liver disease), or other disorder that exposes the participant to a risk of injury or unsuccessful lumbar puncture (LP).
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- Participant received prior treatment with viral or cellular-based gene therapy.
- Participant anticipates using antiplatelet or anticoagulant therapy during the course of the study. Participants who received antiplatelet or anticoagulant therapy must complete a washout period before the Screening visit.
- Participant was noncompliant, in the opinion of the Investigator or Sponsor, when participating in study WVE-004-001.
- Participant is directly or indirectly involved in the conduct and administration of this trial as an Investigator, sub-investigator, trial coordinator, or other trial staff member, or the participant is a first-degree family member, significant other, or relative residing with one of the above persons involved directly or indirectly in the trial.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
Netherlands2 sites
Erasmus MC
Rotterdam, 3015
Universitair Medisch Centrum Utrecht
Utrecht
United Kingdom1 site
University of Oxford - Nuffield Department of Clinical Neurosciences
Oxford, OX3 7LF
About this study
Official title: A Multicenter, Open-label Extension (OLE) Study to Evaluate the Safety, Pharmacodynamics, and Clinical Effects of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD)
This is an OLE study conducted to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and clinical effects of WVE-004 in adult participants with ALS, FTD, or mixed ALS/FTD phenotype with a documented mutation in the C9orf72 gene. To participate in the study, participants must have successfully completed Phase 1b/2a WVE-004-001 study.
- Being tested
- WVE-004 10 mg Q12W
- Medical subject headings
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
WVE-004 10 mg Q12WDrug
Eligible participants successfully completed the Phase 1b/2a WVE-004-001 study, met all inclusion criteria, and none of the exclusion criteria. Participants were administered 10 mg of WVE-004 by intrathecal (IT) injection once every 12 weeks (Q12W) for 96 weeks.
| Study group | Role | What they receive |
|---|---|---|
| WVE-004 (Dose A) | Experimental | Not described Receives: Drug: WVE-004 10 mg Q12W |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Occurrences of Participants With Adverse Events (AEs) Severe AEs, Serious Adverse Events (SAEs), and Withdrawals Due to AEs
A treatment-emergent adverse event (TEAE) is defined as any event not present before exposure to study treatment or any event already present that worsens in either intensity or frequency after exposure to study treatment.
Measured: Day 1 to Week 24 (early termination cutoff)
Secondary outcomes (6)
Change From Baseline in Clinical Dementia Rating Plus National Alzheimer's Coordinating Center Frontotemporal Lobar Degeneration (CDR Plus NACC FTLD)
Disease progression was measured using the CDR plus NACC FTLD scale. The evaluation included assessments of both cognitive and functional measures, including memory, orientation, judgment and problem-solving, involvement in community affairs, home and hobbies, personal care, language and behavior, and comportment and personality.
The rating for each domain was scored using a scale of 0 (none) to 3 (severe) based on the participant's function in relation to cognitive ability (not impairment due to other factors) and past performance (or baseline level of functioning). The overall rating for each domain was summed to provide a global clinical measure of the disease. The CDR plus NACC FTLD score ranges from 0 to 24, with a higher score indicating more severe impairment.
Measured: Day 1 to Week 120 (end of study)
Change From Baseline in ALS Functional Rating Scale-Revised (ALSFRS-R)
ALSFRS-R is an instrument to monitor the function of participants with ALS and their disease progression. The components of the scale are grouped into 4 factors or domains that encompass gross motor tasks, fine motor tasks, bulbar functions, and respiratory functions. These components measure speech, salivation, swallowing, writing, feeding, dressing, turning, walking, climbing, breathing, dyspnea, orthopnea, and respiratory insufficiency. Each component is scaled from 0 to 4, with 4 being normal, and a total score is calculated
Measured: Day 1 to Week 120 (end of study)
Change From Baseline in Handheld Dynamometry (HHD)
Handheld dynamometry was used to provide an objective quantitative measurement of strength, a key hallmark of decline in ALS disease progression. For the HHD assessment, participants would be sitting in a hard-backed chair with armrests or a wheelchair. Muscle strength was tested using the HHD device. Measurements were recorded in pounds. A value of 0 was assigned to a given muscle if a participant could not assume the testing position due to weakness.
Measured: Day 1 to Week 120 (end of study)
Change From Baseline in Pulmonary Function Testing (Forced Vital Capacity (FVC))
Pulmonary function tests (PFTs) are tests that show how well your lungs are working. The tests measure lung volume, capacity, rates of flow, and gas exchange.
Measured: Day 1 to Week 120 (end of study)
Change From Baseline in Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ)-5
The ALSAQ-5 is specifically used to provide a brief assessment of the impacts of ALS on participants. Participants were asked to think about the difficulties they have experienced during the reporting period and scale each event as never/rarely/sometimes/often/always or cannot do at all.
Measured: Day 1 to Week 120 (end of study)
Change From Baseline in the Concentration of Poly-glycine-proline (Poly-GP) Levels in the Cerebrospinal Fluid (CSF)
CSF samples were collected to determine the concentration of poly-GP levels in CSF.
Measured: From Baseline to Week 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2023
- Study start14 Dec 2022
- Primary completion27 Jun 2023
- Study completion27 Jun 2023
Why it stopped: Wave decided to stop the development of WVE-004 based on the available data findings.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Wave Life Sciences USA, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, Wave Life Sciences
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05683860
- Sponsor's protocol ID
- WVE-004-002
- Status last verified
- Jul 2026
- First submitted
- 4 Jan 2023
- Last updated
- 9 Sep 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Open-label Extension (OLE) Study to Evaluate the Safety, Pharmacodynamics, and Clinical Effects of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD)
- ClinicalTrials.gov ID
- NCT05683860
- Acronym / sponsor ID
- WVE-004-002
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Wave decided to stop the development of WVE-004 based on the available data findings.
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Wave Life Sciences USA, Inc.Industry (pharma, biotech, devices)
- Study start
- 14 Dec 2022 (actual)
- Primary completion
- 27 Jun 2023 (actual)
- Study completion
- 27 Jun 2023 (actual)
- First posted
- 13 Jan 2023 (actual)
- Results
- Posted 9 Sep 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an OLE study conducted to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and clinical effects of WVE-004 in adult participants with ALS, FTD, or mixed ALS/FTD phenotype with a documented mutation in the C9orf72 gene. To participate in the study, participants must have successfully completed Phase 1b/2a WVE-004-001 study.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| WVE-004 (Dose A) | Experimental | Drug: WVE-004 10 mg Q12W |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Participants successfully completed the Phase 1b/2a study with WVE-004, WVE-004-001.
- Participant has the ability and is willing to provide informed consent prior to any study procedures. In instances where signed written informed consent is unable to be obtained it is acceptable for the participant to provide consent with legally authorized representative signing on the participant's behalf.
- In the opinion of the Investigator, the participant is able to tolerate all study procedures, is willing to comply with all other protocol requirements, and tolerated study drug in the parent study.
- Participant is willing to practice highly effective contraception for the duration of the study and for 5 months after the last dose of study drug if the participant or their partner are of childbearing potential. In addition, willingness to forego sperm or ova (egg) donation for the duration of the study and 5 months after completion of the study.
- Participant has identified a study partner(s) for the duration of the study.
Key exclusion criteria (10 listed)
- Participant has a clinically significant medical finding on the physical examination other than C9orf72-associated ALS or FTD that, in the judgment of the Investigator or Sponsor, will make the participant unsuitable for participation in and/or completion of the trial procedures.
- Participant received any other investigational drug, biological agent, or device within 1 month or 5 half-lives of study agent, whichever is longer. Participant received an investigational oligonucleotide within the past 6 months or 5 half-lives of the drug, whichever is longer.
- Participant has a positive hepatitis B surface antigen or hepatitis C antibody test.
- Participant who are pregnant (as determined by a serum pregnancy test) or breast feeding at the Screening visit, or plans to become pregnant during the trial.
- Participants deemed to be at significant risk for suicidal behavior, based on Investigator assessment and/or active suicidal ideation.
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 |
|---|---|---|
| WVE-004 10 mg Q12WEligible participants successfully completed the Phase 1b/2a WVE-004-001 study, met all inclusion criteria, and none of the exclusion criteria. Participants were administered 10 mg of WVE-004 by intrathecal (IT) injection once every 12 weeks (Q12W) for 96 weeks. | Drug | WVE-004 (Dose A) |
Primary outcome
Number of Occurrences of Participants With Adverse Events (AEs) Severe AEs, Serious Adverse Events (SAEs), and Withdrawals Due to AEs
Time frame: Day 1 to Week 24 (early termination cutoff)
A treatment-emergent adverse event (TEAE) is defined as any event not present before exposure to study treatment or any event already present that worsens in either intensity or frequency after exposure to study treatment.
6 secondary outcomes
Change From Baseline in Clinical Dementia Rating Plus National Alzheimer's Coordinating Center Frontotemporal Lobar Degeneration (CDR Plus NACC FTLD)
Time frame: Day 1 to Week 120 (end of study)
Change From Baseline in ALS Functional Rating Scale-Revised (ALSFRS-R)
Time frame: Day 1 to Week 120 (end of study)
Change From Baseline in Handheld Dynamometry (HHD)
Time frame: Day 1 to Week 120 (end of study)
Change From Baseline in Pulmonary Function Testing (Forced Vital Capacity (FVC))
Time frame: Day 1 to Week 120 (end of study)
Change From Baseline in Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ)-5
Time frame: Day 1 to Week 120 (end of study)
Change From Baseline in the Concentration of Poly-glycine-proline (Poly-GP) Levels in the Cerebrospinal Fluid (CSF)
Time frame: From Baseline to Week 12
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Sep 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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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. This study is not recruiting at the moment.
Medical Director, MD study director
Wave Life Sciences
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing WVE-004 10 mg Q12W in people with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, run by Wave Life Sciences USA, Inc. at 3 sites in 2 countries.
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 5 inclusion and 10 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: stopped early, as of the sponsor's last update on 9 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Netherlands, United Kingdom. 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?
Yes. Results are posted in the registry (first posted 9 Sep 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Occurrences of Participants With Adverse Events (AEs) Severe AEs, Serious Adverse Events (SAEs), and Withdrawals Due to AEs (time frame: Day 1 to Week 24 (early termination cutoff)). 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 9 Sep 2026.