Actively Recruiting
A Phase 1/Phase 2 Open-label Single Arm Study With Dose Escalation and Dose Expansion to Evaluate Safety, Tolerability, and Efficacy of SAR446268 Gene Therapy in Participants 10 to 55 Years Old With Non-congenital Myotonic Dystrophy Type 1
Led by Sanofi · Updated on 2026-06-01
32
Participants Needed
9
Research Sites
164 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating SAR446268, an adeno-associated viral vector-mediated gene therapy, in male and female participants aged 10 to 55 years with non-congenital myotonic dystrophy type 1 (DM1). This Phase 1/Phase 2 open-label, single-arm study aims to assess the safety and effectiveness of SAR446268 in reducing dystrophia myotonica protein kinase (DMPK) mRNA levels and improving neuromuscular function in people with DM1. Participants will receive a single intravenous infusion of SAR446268. The study consists of two parts: Part A, a dose escalation phase with single ascending doses in three cohorts and an optional fourth cohort, and Part B, a dose expansion phase treating additional participants at the identified safe and effective dose. Each participant's involvement lasts approximately 112 weeks, including an optional pre-screening, about 8 weeks of screening, and a 104-week follow-up period after treatment. Throughout the study, participants will undergo various assessments, including muscle biopsies to measure DMPK mRNA levels and RNA splicing index at 12 and 52 weeks post-treatment. Neuromuscular function will be evaluated using tests like the 10-meter walk-run, hand opening time for myotonia, and bilateral hand grip strength at multiple time points. Researchers will also monitor the presence of the viral vector in urine, saliva, and semen samples at intervals after administration. Safety will be tracked by recording any adverse events up to 52 weeks following therapy.
CONDITIONS
Brief Title
A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1
Who Can Participate
Eligibility Criteria
You may qualify if you...
- For Part A, participants must be 18 to 55 years old at the time of consent.
- For Part B, participants must be 10 to 17 or 18 to 55 years old at the time of consent.
- Participants must have non-congenital onset DM1.
- Participants must show clinical signs of DM1 including myotonia and muscle weakness, diagnosed by a clinician.
- Participants must have a genetic diagnosis of DM1 with CTG repeat length of 50 or more in one allele.
- Participants must be able to walk independently for at least 10 meters (orthoses and ankle braces allowed).
You will not qualify if you...
- Participants with neutralizing antibodies against the AAV.SAN011 capsid.
- Participants with left ventricular ejection fraction below 50%.
- Participants with liver or biliary disease indicated by elevated liver enzymes or bilirubin levels, unless diagnosed with Gilbert's syndrome.
- Participants with elevated International normalized ratio (INR) above 1.5.
- Participants with renal disease as defined by high serum creatinine or low glomerular filtration rate.
- Participants with chronic respiratory insufficiency requiring long-term ventilatory assistance for at least 6 hours per day.
- Participants contraindicated for corticosteroid use or with conditions worsened by corticosteroids.
- Participants with active hepatitis B or C infection or on antiviral therapy for these infections.
- Participants at high risk for tuberculosis reactivation during corticosteroid therapy.
- Participants with known HIV infection.
- Participants with serious illnesses that may reduce survival or preclude study participation.
- Participants with recent drug or alcohol abuse within 12 months prior to screening.
- Participants with recent or planned tibialis anterior biopsy within 12 weeks from Day 1.
- Participants with significant developmental delay, intellectual disability, or behavioral neuropsychiatric issues.
- Participants treated with systemic corticosteroids above 5 mg/day within 15 days before Day 1.
- Participants treated with anti-myotonic medication within 15 days before Day 1.
- Participants judged unsuitable for participation due to medical, clinical, or compliance risks.
- Participants classified as severe cardiac risk by the Investigator.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Single day
Participants receive a single dose of SAR446268 gene therapy by intravenous infusion on Day 1.
1 treatment visit (in-person)
Duration - Up to 52 weeks
Participants are monitored for safety, tolerability, and efficacy through clinical assessments and biological sampling after treatment.
Multiple visits over 52 weeks including assessments at Weeks 4, 8, 12, 26, and 52
Trial Site Locations
Total: 9 locations
1
University of Florida, 2004 Mowry Road - Site Number: 8400005
Gainesville, Florida, United States, 32601
Actively Recruiting
2
University of South Florida - Neuromuscular Research, 13330 USF Laurel Drive - Site Number: 8400001
Tampa, Florida, United States, 33612
Actively Recruiting
3
Columbia University Medical Center - Neurological Institute, 710 W. 168th, 2nd floor, suite 204 - Site Number : 8400003
New York, New York, United States, 10032
Actively Recruiting
4
Virginia Commonwealth University Medical Center- Site Number : 8400006
Richmond, Virginia, United States, 23219
Actively Recruiting
5
Hospital Italiano de Buenos Aires, Juan Domingo Peron 4190 - Site Number: 0320001
Buenos Aires, Argentina, 1181
Actively Recruiting
6
Investigational Site Number : 0360001
Brisbane, Queensland, Australia, 4029
Actively Recruiting
7
The Montreal Neurological Institute and Hospital, 3801 rue University - Site Number: 1240001
Montreal, Quebec, Canada, H3A 2B4
Actively Recruiting
8
Investigational Site Number : 3760002
Ramat Gan, Israel, 5262100
Actively Recruiting
9
Investigational Site Number : 8260002
Newcastle upon Tyne, United Kingdom, NE7 7DN
Actively Recruiting
Research Team
T
Trial Transparency email recommended (Toll free for US & Canada)
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here