Friedreich AtaxiaPhase 1/2NCT05445323
Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia
A Phase 1/2 study testing Low dose LX2006, Mid Dose LX2006 and High Dose LX2006 in people with Friedreich Ataxia and Cardiomyopathy, Secondary, run by Lexeo Therapeutics at 3 sites in United States.
Trial summary
This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy. Read more about this study
- Who is it for?
- Ages 18 to 50 years
- Conditions the study is for
- Friedreich Ataxia, Cardiomyopathy, Secondary
- What is being tested?
- Low dose LX2006, Mid Dose LX2006 and High Dose LX2006
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 3 sitesUnited States
- Study dates
- 24 Aug 2022to Sep 2029
- 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 18 to 50 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Confirmed genetic diagnosis of FA, with onset being before 25 years of age
- Protocol specified ranges for antibodies
- Protocol specified measures of FA cardiomyopathy
Who cannot join
- Protocol specified ranges for left ventricular ejection fraction (LVEF) as measured by cardiac ECHO
- Uncontrolled diabetes
- Abnormal liver function
- Active infection of any type, including hepatitis virus (A, B or C) or human immunodeficiency virus (HIV-1 and HIV-2)
- Contraindication to cardiac MRI
- Contraindications to cardiac biopsies
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- Participants who are receiving systemic corticosteroids or other immunosuppressive medications
- History of significant coronary artery disease or any structural heart or vascular disease other than FA cardiomyopathy
- Presence of clinically significant, hemodynamically unstable arrhythmias, requiring physician intervention
- Presence of clinically significant abnormalities as determined by the investigator, other than ECG abnormalities related to FA
- Uncontrolled psychiatric disease
- Other Inclusion/Exclusion criteria to be applied as per protocol.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Ataxia Center and HD Center of Excellence, University of California
Los Angeles, California, 90095
Mayo Clinic
Rochester, Minnesota, 55905
University of South Florida
Tampa, Florida, 33612
About this study
Official title: A Phase 1/2 Study of the Safety and Efficacy of LX2006 Gene Therapy in Participants With Cardiomyopathy Associated With Friedreich's Ataxia
This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy. The study will evaluate up to three doses of single administration of LX2006 (AAVrh.10hFXN), an adeno-associated virus (AAV) gene therapy designed to intravenously deliver the human frataxin (hFXN) gene to cardiac cells over a 52-week period. Long-term safety and efficacy will be evaluated for an additional 4-years for a total of 5-years post LX2006 treatment.
Read the detailed description
Friedreich's ataxia (FA) is a rare, autosomal recessive disease caused by a mutation in the autosomal frataxin (FXN) gene. Progressive cardiomyopathy with cardiac hypertrophy and fibrosis is observed in most individuals with FA. The disease is more severe in those with earlier onset. Presently, there is no therapy that alters the progression of cardiomyopathy in FA, which is responsible for 59% of FA-related deaths.
The primary objective of this dose escalation study is to assess the safety and tolerability of three ascending doses of LX2006 in patients with FA-associated cardiomyopathy. LX2006 is designed to restore hFXN levels in order to improve mitochondrial function. Assessments of cardiac function, biomarkers and other preliminary efficacy endpoints are also included in this study.
- Conditions
- Friedreich Ataxia, Cardiomyopathy, Secondary
- Being tested
- Low dose LX2006, Mid Dose LX2006, High Dose LX2006
- Keywords
- Friedreich's Ataxia, Cardiomyopathy, FA, Gene therapy, FXN Gene, Frataxin Gene, LX2006
- Medical subject headings
- Friedreich Ataxia, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Low dose LX2006Genetic
Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN)
Mid Dose LX2006Genetic
Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN)
High Dose LX2006Genetic
Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN)
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1/ Cohort 2/ Cohort 3 | Experimental | Not described Receives: Genetic: Low dose LX2006; Genetic: Mid Dose LX2006; Genetic: High Dose LX2006 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Treatment-emergent adverse events (TEAEs) and Treatment-emergent serious events (TESAEs)
Measured: Change from baseline to end of year 5 post dose
Secondary outcomes (5)
Change from baseline in LVMi
Measured: Change from baseline to end of year 5 post dose
Change from baseline in LVEF
Measured: Change from baseline to end of year 5 post dose
Change from baseline in cardiac fibrosis as measured by cardiac MRI
Measured: Change from baseline to end of year 5 post dose
Change from baseline in measures of cardiopulmonary exercise tolerance
Measured: Change from baseline to end of year 5 post dose
Presence and severity of cardiac arrythmias
Measured: Change from baseline to end of year 5 post dose
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2022
- Study start24 Aug 2022
- Primary completionSep 2029 (estimated)
- Study completionSep 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Friedreich AtaxiaStudies 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
- Sequential
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Lexeo Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- LEXEO Clinical Trials, Study director, Lexeo Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05445323
- Sponsor's protocol ID
- LX2006-01
- Status last verified
- Dec 2025
- First submitted
- 23 Jun 2022
- Last updated
- 23 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Crystal RG, Weinsaft JW, Kaminsky SM, Caragiulo A, Savage N, Patel A, Gavrilova RH, Perlman SL, Galbraith M, Kahlon U, Krishnan U, Kaner RJ, Sanders A, Vo M, Sarva H, Yoo A, Sondhi D, De BP, Mezey JG, Aubert G, Khan A, Selvan N, Bhalla N, Adler E, Zesiewicz T. AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial. JAMA Cardiol. 2026 Aug 1;11(8):709-718. doi: 10.1001/jamacardio.2026.1699.
PubMed 42307907Hendrickx N, Mentre F, Hamdan A, Karlsson MO, Hooker AC, Traschutz A, Gagnon C, Schule R, Synofzik M, Comets E; ARCA Study Group, EVIDENCE-RND consortium. Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score. BMC Med Res Methodol. 2025 Jul 30;25(1):179. doi: 10.1186/s12874-025-02626-x.
PubMed 40739200
Study at a glance
From the registry record, last updated by the sponsor on 23 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2 Study of the Safety and Efficacy of LX2006 Gene Therapy in Participants With Cardiomyopathy Associated With Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT05445323
- Acronym / sponsor ID
- LX2006-01
- Conditions
- Friedreich Ataxia, Cardiomyopathy, Secondary
- Keywords
- Friedreich's Ataxia, Cardiomyopathy, FA, Gene therapy, FXN Gene, Frataxin Gene, LX2006
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Lexeo TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 24 Aug 2022 (actual)
- Primary completion
- Sep 2029 (estimated)
- Study completion
- Sep 2029 (estimated)
- First posted
- 6 Jul 2022 (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.
This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy. The study will evaluate up to three doses of single administration of LX2006 (AAVrh.10hFXN), an adeno-associated virus (AAV) gene therapy designed to intravenously deliver the human frataxin (hFXN) gene to cardiac cells over a 52-week period. Long-term safety and efficacy will be evaluated for an additional 4-years for a total of 5-years post LX2006 treatment.
Detailed description
Friedreich's ataxia (FA) is a rare, autosomal recessive disease caused by a mutation in the autosomal frataxin (FXN) gene. Progressive cardiomyopathy with cardiac hypertrophy and fibrosis is observed in most individuals with FA. The disease is more severe in those with earlier onset. Presently, there is no therapy that alters the progression of cardiomyopathy in FA, which is responsible for 59% of FA-related deaths.
The primary objective of this dose escalation study is to assess the safety and tolerability of three ascending doses of LX2006 in patients with FA-associated cardiomyopathy. LX2006 is designed to restore hFXN levels in order to improve mitochondrial function. Assessments of cardiac function, biomarkers and other preliminary efficacy endpoints are also included in this study.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort 1/ Cohort 2/ Cohort 3 | Experimental | Genetic: Low dose LX2006, Genetic: Mid Dose LX2006, Genetic: High Dose LX2006 |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (3 listed)
- Confirmed genetic diagnosis of FA, with onset being before 25 years of age
- Protocol specified ranges for antibodies
- Protocol specified measures of FA cardiomyopathy
Key exclusion criteria (12 listed)
- Protocol specified ranges for left ventricular ejection fraction (LVEF) as measured by cardiac ECHO
- Uncontrolled diabetes
- Abnormal liver function
- Active infection of any type, including hepatitis virus (A, B or C) or human immunodeficiency virus (HIV-1 and HIV-2)
- Contraindication to cardiac MRI
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 |
|---|---|---|
| Low dose LX2006Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN) | Genetic | Cohort 1/ Cohort 2/ Cohort 3 |
| Mid Dose LX2006Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN) | Genetic | Cohort 1/ Cohort 2/ Cohort 3 |
| High Dose LX2006Adeno-associated viral vector encoding the FXN gene (AAVrh.10hFXN) | Genetic | Cohort 1/ Cohort 2/ Cohort 3 |
Primary outcome
Treatment-emergent adverse events (TEAEs) and Treatment-emergent serious events (TESAEs)
Time frame: Change from baseline to end of year 5 post dose
5 secondary outcomes
Change from baseline in LVMi
Time frame: Change from baseline to end of year 5 post dose
Change from baseline in LVEF
Time frame: Change from baseline to end of year 5 post dose
Change from baseline in cardiac fibrosis as measured by cardiac MRI
Time frame: Change from baseline to end of year 5 post dose
Change from baseline in measures of cardiopulmonary exercise tolerance
Time frame: Change from baseline to end of year 5 post dose
Presence and severity of cardiac arrythmias
Time frame: Change from baseline to end of year 5 post dose
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 23 Dec 2025.
- Derived from this study: PubMed 42307907Crystal RG, Weinsaft JW, Kaminsky SM, Caragiulo A, Savage N, Patel A, Gavrilova RH, Perlman SL, Galbraith M, Kahlon U, Krishnan U, Kaner RJ, Sanders A, Vo M, Sarva H, Yoo A, Sondhi D, De BP, Mezey JG, Aubert G, Khan A, Selvan N, Bhalla N, Adler E, Zesiewicz T. AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial. JAMA Cardiol. 2026 Aug 1;11(8):709-718. doi: 10.1001/jamacardio.2026.1699.
- Derived from this study: PubMed 40739200Hendrickx N, Mentre F, Hamdan A, Karlsson MO, Hooker AC, Traschutz A, Gagnon C, Schule R, Synofzik M, Comets E; ARCA Study Group, EVIDENCE-RND consortium. Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score. BMC Med Res Methodol. 2025 Jul 30;25(1):179. doi: 10.1186/s12874-025-02626-x.
- 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. This study is not recruiting at the moment.
LEXEO Clinical Trials study director
Lexeo Therapeutics
3 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 Low dose LX2006, Mid Dose LX2006 and High Dose LX2006 in people with Friedreich Ataxia and Cardiomyopathy, Secondary, run by Lexeo Therapeutics at 3 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 3 inclusion and 12 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: under way, not looking for participants, as of the sponsor's last update on 23 Dec 2025. 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 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?
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?
Treatment-emergent adverse events (TEAEs) and Treatment-emergent serious events (TESAEs) (time frame: Change from baseline to end of year 5 post dose). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05445323, which also lists 2 linked publications.
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 23 Dec 2025.