Muscular Dystrophy, FacioscapulohumeralPhase 1/2NCT06131983
Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1
A Phase 1/2 study testing SRP-1001 for Injection in people with Muscular Dystrophy, Facioscapulohumeral, run by Sarepta Therapeutics, Inc. at 16 sites in 7 countries.
Trial summary
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1). In Part 1 of the study, participants will receive one dose of SRP-1001 or placebo. Read more about this study
- Who is it for?
- Ages 16 to 70 years
- Conditions the study is for
- Muscular Dystrophy, Facioscapulohumeral
- What is being tested?
- SRP-1001 for Injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 60 participants
- Where
- 16 sitesin 7 countries
- Study dates
- 19 Jun 2024to 31 Dec 2028
- 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 16 to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Genetically confirmed FSHD1 based on screening evaluation or source verifiable medical record
- Clinical severity score between 3 and 8 (scale, 0 to 10)
- Must have an eligible lower extremity muscle for biopsy as determined from MRI by a central reader, with muscle fat fraction ≥10% and less than approximately 40%
- Males or nonpregnant, nonlactating females ≥18 years of age who do not plan to become pregnant during the study, with an upper age limit of ≤70 years
- Able and willing to provide written informed consent prior to the performance of any study specific procedures
- Participants with a body mass index (BMI) between 18.0 and 35.0 kilograms/square meter, inclusive. A participant with FSHD1 and a BMI outside this range may be allowed into the study at the discretion of the principal investigator.
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- Must have eligible lower extremity muscle for biopsy as determined from MRI by a central reader
- A 12-lead electrocardiogram at screening with no abnormalities that may compromise participant's safety in the study
- Participants of childbearing potential and their partners must use highly effective contraception during the study and for at least 9 months following the end of study or last dose of study medication, whichever is later. Males must not donate sperm during the study from Day 1 until at least 9 months following the end of study or last dose of study medication, whichever is later.
Who cannot join
- Human immunodeficiency virus (HIV) infection as shown by presence of anti-HIV antibody (seropositive) at screening
- Seropositive for hepatitis B or hepatitis C at screening
- Uncontrolled hypertension
- Severe cardiovascular disease
- History of thrombolic events
- Platelet count less that the lower limit of normal at screening
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- History or presence of: a hypercoagulable state, nephrotic range proteinuria, antiphospholipid antibody syndrome, myeloproliferative disease, inability to ambulate, use of hormone-based contraceptives.
- Any contraindication to muscle biopsy or MRI
- Note: additional inclusion/exclusion criteria may apply per protocol
Trial locations and contacts
16 sites in 7 countries. Contact the study team or a site near you to ask about taking part.
16 sites in 7 countries
Australia4 sites
Wesley Research Institute
Auchenflower, Queensland, 4066
Sunshine Coast University Hospital
Birtinya, Queensland, 4575
Liverpool Hospital
Liverpool, New South Wales, 2170
Alfred Health
Melbourne, Victoria, 3004
Canada3 sites
University of Calgary
Calgary, Alberta, T2N4Z6
University of Alberta
Edmonton, Alberta, T6G2G4
McGill University
Montreal, Quebec, H3A2B4
Spain3 sites
Hospital Universitario Vall d'Hebron
Barcelona, 08035
Hospital Universitario Ramon y Cajal
Madrid, 28034
Hospital Universitari l Politecnic La Fe de Valencia
Valencia, 46026
Germany2 sites
Universitätsklinikum München
München, 80336
Neurologische Universitätsklinik Am Rku
Ulm, 89081
Italy2 sites
Centro Clinico Nemo Milann
Milan, 20162
Fondazione Policlinico Universitario A. Gemelli
Roma, 00168
About this study
Official title: A Phase 1/2a Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ARO-DUX4 (SRP-1001) in Adult Patients and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1). In Part 1 of the study, participants will receive one dose of SRP-1001 or placebo. In Part 2 of the study, participants will receive 4 doses of SRP-1001 or placebo. Participants who complete Part 1 will have the option to re-screen and re-randomize into Part 2. All participants will undergo pre- and post-dose magnetic imaging resonance (MRI)-guided muscle biopsies (a total of 2 biopsies). Participants who complete Part 1 and enroll in Part 2 will be required to undergo an additional screening biopsy. Participants completing Part 1 or Part 2 may have the option to continue to receive drug in an open-label extension study or may be eligible to participate in later-stage clinical studies.
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Being tested
- SRP-1001 for Injection, Placebo
- Keywords
- Facio-Scapulo-Humeral Muscular Dystrophy, SRP-1001, ARO-DUX4
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SRP-1001 for InjectionDrug
Also called ARO-DUX4 for Injection
Single or multiple doses of SRP-1001 by intravenous (IV) infusion
PlaceboDrug
Calculated volume to match active treatment by IV infusion
| Study group | Role | What they receive |
|---|---|---|
| SRP-1001 | Experimental | SRP-1001 for injection Receives: Drug: SRP-1001 for Injection |
| Placebo | Placebo comparator | Sodium chloride (0.9%) Receives: Drug: Placebo |
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 Over Time Through End of Study
Measured: Part 1: Up to Day 90; Part 2: Up to Day 360
Secondary outcomes (10)
PK of SRP-1001: Maximum Observed Plasma Concentration (Cmax)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to 24 Hours (AUC0-24)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to the Last Quantifiable Plasma Concentration (AUClast)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time from Zero to Infinity (AUCinf)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Terminal Elimination Half-Life (t1/2)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Systemic Clearance (CL)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Volume of Distribution (Vss)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Recovery of Unchanged Drug in Urine Over 0-24 Hours (Amount Excreted: Ae)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Fraction of Drug Excreted in Urine as Percent of IV Dose (Fe)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Renal Clearance (CLr)
Measured: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Nov 2023
- Study start19 Jun 2024
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Dystrophy, FacioscapulohumeralStudies of the same condition, open and under way.
- More trials run by Sarepta Therapeutics, Inc.The 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
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sarepta Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Sarepta Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06131983
- Sponsor's protocol ID
- SRP-1001-101
- Other IDs
- 2023-509748-89-00, 2023
- Status last verified
- Oct 2026
- First submitted
- 8 Nov 2023
- Last updated
- 5 Oct 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 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2a Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ARO-DUX4 (SRP-1001) in Adult Patients and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT06131983
- Acronym / sponsor ID
- SRP-1001-101
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Keywords
- Facio-Scapulo-Humeral Muscular Dystrophy, SRP-1001, ARO-DUX4
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 19 Jun 2024 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 15 Nov 2023 (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 purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1). In Part 1 of the study, participants will receive one dose of SRP-1001 or placebo. In Part 2 of the study, participants will receive 4 doses of SRP-1001 or placebo. Participants who complete Part 1 will have the option to re-screen and re-randomize into Part 2. All participants will undergo pre- and post-dose magnetic imaging resonance (MRI)-guided muscle biopsies (a total of 2 biopsies). Participants who complete Part 1 and enroll in Part 2 will be required to undergo an additional screening biopsy. Participants completing Part 1 or Part 2 may have the option to continue to receive drug in an open-label extension study or may be eligible to participate in later-stage clinical studies.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| SRP-1001 | Experimental | Drug: SRP-1001 for InjectionSRP-1001 for injection |
| Placebo | Placebo comparator | Drug: PlaceboSodium chloride (0.9%) |
Who may qualify
- Ages
- 16 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- Genetically confirmed FSHD1 based on screening evaluation or source verifiable medical record
- Clinical severity score between 3 and 8 (scale, 0 to 10)
- Must have an eligible lower extremity muscle for biopsy as determined from MRI by a central reader, with muscle fat fraction ≥10% and less than approximately 40%
- Males or nonpregnant, nonlactating females ≥18 years of age who do not plan to become pregnant during the study, with an upper age limit of ≤70 years
- Able and willing to provide written informed consent prior to the performance of any study specific procedures
Key exclusion criteria (9 listed)
- Human immunodeficiency virus (HIV) infection as shown by presence of anti-HIV antibody (seropositive) at screening
- Seropositive for hepatitis B or hepatitis C at screening
- Uncontrolled hypertension
- Severe cardiovascular disease
- History of thrombolic events
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 |
|---|---|---|
| SRP-1001 for InjectionAlso: ARO-DUX4 for InjectionSingle or multiple doses of SRP-1001 by intravenous (IV) infusion | Drug | SRP-1001 |
| PlaceboCalculated volume to match active treatment by IV infusion | Drug | Placebo |
Primary outcome
Number of Participants With Treatment-Emergent Adverse Events Over Time Through End of Study
Time frame: Part 1: Up to Day 90; Part 2: Up to Day 360
10 secondary outcomes
PK of SRP-1001: Maximum Observed Plasma Concentration (Cmax)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to 24 Hours (AUC0-24)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to the Last Quantifiable Plasma Concentration (AUClast)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Area Under the Plasma Concentration Versus Time from Zero to Infinity (AUCinf)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Terminal Elimination Half-Life (t1/2)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Systemic Clearance (CL)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Volume of Distribution (Vss)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Recovery of Unchanged Drug in Urine Over 0-24 Hours (Amount Excreted: Ae)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Fraction of Drug Excreted in Urine as Percent of IV Dose (Fe)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose
PK of SRP-1001: Renal Clearance (CLr)
Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second 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 5 Oct 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.
Medical Director study director
Sarepta Therapeutics, Inc.
16 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing SRP-1001 for Injection in people with Muscular Dystrophy, Facioscapulohumeral, run by Sarepta Therapeutics, Inc. at 16 sites in 7 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 9 inclusion and 9 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: enrolling by invitation, as of the sponsor's last update on 5 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in Australia, Canada, Spain, Germany, Italy and 2 more countries. 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. Some participants in this study may receive a placebo. 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?
Number of Participants With Treatment-Emergent Adverse Events Over Time Through End of Study (time frame: Part 1: Up to Day 90; Part 2: Up to Day 360). 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 Oct 2026.