Friedreich AtaxiaPhase 1NCT06483802
A Study of ASP2016 in Adults Who Have Heart Disease Associated With Friedreich Ataxia
A Phase 1 study testing ASP2016 and Prednisolone in people with Friedreich Ataxia and Cardiomyopathy, run by Astellas Gene Therapies.
Trial summary
Friedreich Ataxia is a rare condition that causes damage to the nervous system and muscles. People with Friedreich Ataxia have difficulty walking, lose sensation in their arms and legs, and have slurred speech. It can also affect the heart and many people with Friedrich Ataxia develop serious heart problems. Read more about this study
- Who is it for?
- Ages 18 to 40 years
- Conditions the study is for
- Friedreich Ataxia, Cardiomyopathy
- What is being tested?
- ASP2016 and Prednisolone
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- 8 Nov 2024to 22 Oct 2025
- Phase
- Phase 1
- Are there results?
- None posted in the registry
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 40 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Participant has both a clinical diagnosis of Friedreich ataxia (FA) and a documented history of genetic diagnosis of FA with either a guanine-adenine-adenine (GAA) trinucleotide repeat (TNR) expansion in intron 1 of both gene for frataxin (FXN) alleles or a GAA TNR expansion of intron 1 of one FXN allele and a pathogenic variant in the other FXN allele.
- Participant has a resting LVEF ≥ 40% and < 55% as measured at screening by ECHO.
- Participant has a body mass index range of 17.0 to 30.0 kg/m2.
- Participant agrees not to begin omaveloxolone treatment during the 52-week period after receiving study intervention.
- Participants on omaveloxolone, who opt to discontinue omaveloxolone, may enroll if they stop omaveloxolone for 3 weeks and pass study screening, including LFTs.
- Participants on omaveloxolone, who opt to stay on omaveloxolone will need to have been on it for a minimum of 3 months, with LFTs that pass diagnostic assessments exclusion criteria at screening and prior to dosing with ASP2016. Prior elevation(s) in AST/ALT associated with omaveloxolone use must be discussed with the sponsor medical monitor. If there is a liver function test (LFT) elevation after treatment, participant agrees to stop omaveloxolone treatment until 52 weeks.
- Participants on omaveloxolone will need to discontinue strong or moderate cytochrome P450 3A4 (CYP3A4) inducers and inhibitors.
- Woman of Child Bearing Potential (WOCBP) on omaveloxolone must use a nonhormonal, highly effective methods of contraception (e.g., nonhormonal intrauterine device system), as omaveloxolone may interfere with hormonal methods of contraception.
Who cannot join
- Participant has late-onset FA, defined as symptom onset after the age of 25 years.
- Participant is unable to complete cardiopulmonary exercise testing (CPET) procedure.
- Participant has a contraindication to endomyocardial biopsy or cardiac catheterization.
- Participant has a contraindication to cardiac magnetic resonance imaging (CMRI) with contrast, including hypersensitivity to gadolinium contrast agent, cardiac pacemaker or implantable cardiac defibrillator.
- Participant has an elevated titer of anti-AAV8 total antibodies, as determined by central testing.
- Participant has significant fibrosis on CMRI, defined as late gadolinium enhancement of > 15% left ventricular myocardial mass.
About this study
Official title: A Multicenter, Open-Label, Dose Escalation, Phase 1b Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2016 for Friedreich Ataxia Cardiomyopathy
Friedreich Ataxia is a rare condition that causes damage to the nervous system and muscles. People with Friedreich Ataxia have difficulty walking, lose sensation in their arms and legs, and have slurred speech. It can also affect the heart and many people with Friedrich Ataxia develop serious heart problems. Friedreich Ataxia is a genetic condition which means a faulty gene is passed down through families. This type of gene therapy treats a genetic condition by providing a healthy copy of the gene.
At the time this study started, there was no approved treatment for heart problems in people with Friedreich Ataxia.
Read more
In this study, ASP2016 is being tested in humans for the first time. The people taking part are adults with Friedreich Ataxia who have heart problems.
The main aims of the study are to check the safety of ASP2016 and how people cope with (tolerate) ASP2016. ASP2016 is given as a slow injection into a vein. This is called an infusion. People will also take tablets of a medicine called prednisolone. This is taken to stop the immune system interfering with ASP2016.
Each person in the study will be given 1 single infusion of ASP2016. Different small groups will receive lower or higher doses of ASP2016. Each person will stay overnight in the clinic for at least 1 night after their infusion.
For the first few months, people will visit the clinic regularly. There may be the option of home visits by a study nurse at some visits. At the 6-month and 12-month visits extra tests, procedures, and scans will be done. One of these is an ECHO (echocardiogram) scan. This is like an ultrasound scan for the heart. Another is an endomyocardial biopsy. A tiny piece of their heart tissue is removed (biopsy). A flexible hollow tube (catheter) goes into the blood vessels up to the heart. Then, a small device on the end of the catheter takes a tiny piece of heart tissue (about the size of a pencil tip). Another is a cardiac MRI. This takes pictures of the inside of the heart using a powerful magnet. Another is a cardiopulmonary exercise test (CPET). This involves moving a specially designed set of bicycle pedals using hands and arms. This will check how the lungs, heart and muscles are affected during exercise.
After the 12-month visit, people will visit the clinic every few months for up to a few years.
- Conditions
- Friedreich Ataxia, Cardiomyopathy
- Being tested
- ASP2016, Prednisolone
- Keywords
- ASP2016, Friedreich Ataxia Cardiomyopathy, Frataxin, Friedreichs Ataxia, Heart, Gene Therapy
- 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.
ASP2016Genetic
Intravenous (IV) infusion
PrednisoloneDrug
Oral
| Study group | Role | What they receive |
|---|---|---|
| ASP2016 | Experimental | Participants will receive a single dose of ASP2016. Participants will also receive daily prednisolone beginning 1 day prior to ASP2016 dose and for at least 16 weeks after ASP2016 dose, in order to suppress the immune response to ASP2016. Receives: Genetic: ASP2016; Drug: Prednisolone |
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)
A TEAE is defined as an AE observed after starting administration of the study intervention.
An AE is any untoward medical occurrence in a patient or clinical study participant, temporally associated with the use of study intervention, whether or not considered related to the study intervention.
Note: an AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom or disease (new or exacerbated) temporally associated with the use of study intervention. This includes events related to the comparator, if applicable, and events related to the (study) procedures.
Measured: Up to month 60
Number of Participants with Serious Adverse Events (SAEs)
An SAE is defined as any untoward medical occurrence that, at any dose: results in death, is life-threatening, requires inpatient hospitalization or prolongation of existing hospitalization, results in persistent or significant disability/incapacity, is a congenital anomaly/birth defect, and other medically important events.
Measured: Up to month 60
Number of participants with laboratory value abnormalities and/or AEs
Number of participants with potentially clinically significant laboratory values.
Measured: Up to month 60
Number of participants with electrocardiogram (ECG) abnormalities and/or AEs
Number of participants with potentially clinically significant ECG values.
Measured: Up to month 60
Number of participants with physical exam value abnormalities and/or AEs
Number of participants with potentially clinically significant physical exam values.
Measured: Up to month 60
Secondary outcomes (11)
Change from baseline of frataxin protein level in cardiac tissue
Frataxin protein level in cardiac tissue will be recorded from endomyocardial biopsies collected by cardiac catheterization.
Measured: Baseline, week 24 and week 52
Change from baseline of peak rate of oxygen consumption (VO2peak)
VO2peak will be measured by upper extremity cardiopulmonary exercise testing (CPET).
Measured: Baseline, week 24 and week 52
Change from baseline of ventilatory anaerobic threshold (AT)
AT will be measured by upper extremity CPET.
Measured: Baseline, week 24 and week 52
Change from baseline of ventilation (VE)/volume of exhaled carbon dioxide (VCO2) slope
VE/VCO2 slope will be measured by upper extremity CPET.
Measured: Baseline, week 24 and week 52
Change from baseline of left ventricular ejection fraction (LVEF)
LVEF will be measured by echocardiogram (ECHO).
Measured: Baseline, week 24 and week 52
Change from baseline of left ventricular mass index (LVMI)
LVMI will be measured by ECHO.
Measured: Baseline, week 24 and week 52
Change from baseline of longitudinal cardiac strain
Longitudinal cardiac strain will be measured by ECHO.
Measured: Baseline, week 24 and week 52
Change from baseline of vector copy number (VCN)
VCN will be recorded from endomyocardial biopsies collected by cardiac catheterization.
Measured: Baseline, week 24 and week 52
Change from baseline of total antibody (TAb) to adeno-associated virus 8 (AAV8)
TAb to AAV8 will be recorded from serum samples collected.
Measured: Baseline and up to week 52
Change from baseline of neutralizing antibody (NAb) to AAV8
NAb to AAV8 will be recorded from serum samples collected.
Measured: Baseline and up to week 52
Change from baseline of TAb to frataxin
TAb to frataxin will be recorded from serum samples collected.
Measured: Baseline and up to week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jul 2024
- Study start8 Nov 2024
- Primary completion22 Oct 2025
- Study completion22 Oct 2025
Why it stopped: Corporate decision to withdraw the trial at this time.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)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
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Astellas Gene Therapies
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Global Medical Lead, Study director, Astellas Pharma Global Development, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06483802
- Sponsor's protocol ID
- 2016-CL-0101
- Status last verified
- Nov 2025
- First submitted
- 26 Jun 2024
- Last updated
- 28 Nov 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: Access to anonymized individual participant level data will not be provided for this trial. Further details on Astellas' data sharing policy can be found at https://www.clinicaltrials.astellas.com/transparency/.
Publications
Hendrickx 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 28 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Open-Label, Dose Escalation, Phase 1b Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2016 for Friedreich Ataxia Cardiomyopathy
- ClinicalTrials.gov ID
- NCT06483802
- Acronym / sponsor ID
- 2016-CL-0101
- Conditions
- Friedreich Ataxia, Cardiomyopathy
- Keywords
- ASP2016, Friedreich Ataxia Cardiomyopathy, Frataxin, Friedreichs Ataxia, Heart, Gene Therapy
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: Corporate decision to withdraw the trial at this time.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Astellas Gene TherapiesIndustry (pharma, biotech, devices)
- Study start
- 8 Nov 2024 (actual)
- Primary completion
- 22 Oct 2025 (actual)
- Study completion
- 22 Oct 2025 (actual)
- First posted
- 3 Jul 2024 (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.
Friedreich Ataxia is a rare condition that causes damage to the nervous system and muscles. People with Friedreich Ataxia have difficulty walking, lose sensation in their arms and legs, and have slurred speech. It can also affect the heart and many people with Friedrich Ataxia develop serious heart problems. Friedreich Ataxia is a genetic condition which means a faulty gene is passed down through families. This type of gene therapy treats a genetic condition by providing a healthy copy of the gene.
At the time this study started, there was no approved treatment for heart problems in people with Friedreich Ataxia.
In this study, ASP2016 is being tested in humans for the first time. The people taking part are adults with Friedreich Ataxia who have heart problems.
The main aims of the study are to check the safety of ASP2016 and how people cope with (tolerate) ASP2016. ASP2016 is given as a slow injection into a vein. This is called an infusion. People will also take tablets of a medicine called prednisolone. This is taken to stop the immune system interfering with ASP2016.
Each person in the study will be given 1 single infusion of ASP2016. Different small groups will receive lower or higher doses of ASP2016. Each person will stay overnight in the clinic for at least 1 night after their infusion.
For the first few months, people will visit the clinic regularly. There may be the option of home visits by a study nurse at some visits. At the 6-month and 12-month visits extra tests, procedures, and scans will be done. One of these is an ECHO (echocardiogram) scan. This is like an ultrasound scan for the heart. Another is an endomyocardial biopsy. A tiny piece of their heart tissue is removed (biopsy). A flexible hollow tube (catheter) goes into the blood vessels up to the heart. Then, a small device on the end of the catheter takes a tiny piece of heart tissue (about the size of a pencil tip). Another is a cardiac MRI. This takes pictures of the inside of the heart using a powerful magnet. Another is a cardiopulmonary exercise test (CPET). This involves moving a specially designed set of bicycle pedals using hands and arms. This will check how the lungs, heart and muscles are affected during exercise.
After the 12-month visit, people will visit the clinic every few months for up to a few years.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ASP2016 | Experimental | Genetic: ASP2016, Drug: PrednisoloneParticipants will receive a single dose of ASP2016. Participants will also receive daily prednisolone beginning 1 day prior to ASP2016 dose and for at least 16 weeks after ASP2016 dose, in order to suppress the immune response to ASP2016. |
Who may qualify
- Ages
- 18 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (8 listed)
- Participant has both a clinical diagnosis of Friedreich ataxia (FA) and a documented history of genetic diagnosis of FA with either a guanine-adenine-adenine (GAA) trinucleotide repeat (TNR) expansion in intron 1 of both gene for frataxin (FXN) alleles or a GAA TNR expansion of intron 1 of one FXN allele and a pathogenic variant in the other FXN allele.
- Participant has a resting LVEF ≥ 40% and < 55% as measured at screening by ECHO.
- Participant has a body mass index range of 17.0 to 30.0 kg/m2.
- Participant agrees not to begin omaveloxolone treatment during the 52-week period after receiving study intervention.
- Participants on omaveloxolone, who opt to discontinue omaveloxolone, may enroll if they stop omaveloxolone for 3 weeks and pass study screening, including LFTs.
Key exclusion criteria (6 listed)
- Participant has late-onset FA, defined as symptom onset after the age of 25 years.
- Participant is unable to complete cardiopulmonary exercise testing (CPET) procedure.
- Participant has a contraindication to endomyocardial biopsy or cardiac catheterization.
- Participant has a contraindication to cardiac magnetic resonance imaging (CMRI) with contrast, including hypersensitivity to gadolinium contrast agent, cardiac pacemaker or implantable cardiac defibrillator.
- Participant has an elevated titer of anti-AAV8 total antibodies, as determined by central testing.
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 |
|---|---|---|
| ASP2016Intravenous (IV) infusion | Genetic | ASP2016 |
| PrednisoloneOral | Drug | ASP2016 |
Primary outcome
Number of Participants with Treatment Emergent Adverse Events (TEAEs)
Time frame: Up to month 60
A TEAE is defined as an AE observed after starting administration of the study intervention. An AE is any untoward medical occurrence in a patient or clinical study participant, temporally associated with the use of study intervention, whether or not considered related to the study intervention. Note: an AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom or disease (new or exacerbated) temporally associated with the use of study intervention. This includes events related to the comparator, if applicable, and events related to the (study) procedures.
Number of Participants with Serious Adverse Events (SAEs)
Time frame: Up to month 60
An SAE is defined as any untoward medical occurrence that, at any dose: results in death, is life-threatening, requires inpatient hospitalization or prolongation of existing hospitalization, results in persistent or significant disability/incapacity, is a congenital anomaly/birth defect, and other medically important events.
Number of participants with laboratory value abnormalities and/or AEs
Time frame: Up to month 60
Number of participants with potentially clinically significant laboratory values.
Number of participants with electrocardiogram (ECG) abnormalities and/or AEs
Time frame: Up to month 60
Number of participants with potentially clinically significant ECG values.
Number of participants with physical exam value abnormalities and/or AEs
Time frame: Up to month 60
Number of participants with potentially clinically significant physical exam values.
11 secondary outcomes
Change from baseline of frataxin protein level in cardiac tissue
Time frame: Baseline, week 24 and week 52
Change from baseline of peak rate of oxygen consumption (VO2peak)
Time frame: Baseline, week 24 and week 52
Change from baseline of ventilatory anaerobic threshold (AT)
Time frame: Baseline, week 24 and week 52
Change from baseline of ventilation (VE)/volume of exhaled carbon dioxide (VCO2) slope
Time frame: Baseline, week 24 and week 52
Change from baseline of left ventricular ejection fraction (LVEF)
Time frame: Baseline, week 24 and week 52
Change from baseline of left ventricular mass index (LVMI)
Time frame: Baseline, week 24 and week 52
Change from baseline of longitudinal cardiac strain
Time frame: Baseline, week 24 and week 52
Change from baseline of vector copy number (VCN)
Time frame: Baseline, week 24 and week 52
Change from baseline of total antibody (TAb) to adeno-associated virus 8 (AAV8)
Time frame: Baseline and up to week 52
Change from baseline of neutralizing antibody (NAb) to AAV8
Time frame: Baseline and up to week 52
Change from baseline of TAb to frataxin
Time frame: Baseline and up to week 52
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2025.
- 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. Access to anonymized individual participant level data will not be provided for this trial. Further details on Astellas' data sharing policy can be found at https://www.clinicaltrials.astellas.com/transparency/.
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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.
Global Medical Lead study director
Astellas Pharma Global Development, Inc.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing ASP2016 and Prednisolone in people with Friedreich Ataxia and Cardiomyopathy, run by Astellas Gene Therapies.
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 8 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: withdrawn, as of the sponsor's last update on 28 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
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 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.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
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 Participants with Treatment Emergent Adverse Events (TEAEs) (time frame: Up to month 60). The study lists 5 primary outcomes in all. 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 NCT06483802, which also lists 1 linked publication.
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 28 Nov 2025.