Konjenital Olmayan Tip 1 Miyotonik Distrofisi Olan 10-55 Yaş Arası Katılımcılarda Adeno-ilişkili Viral Vektör Aracılı Gen Tedavisi SAR446268'in Güvenliği, Tolere Edilebilirliği ve Etkinliğinin Araştırılması

Sade dilde özet

Bu Faz 1/2 (Phase 1/2) açık etiketli, tek kollu, çok merkezli ve çok uluslu çalışma, konjenital olmayan tip 1 miyotonik distrofisi (myotonic dystrophy type 1, DM1) olan 10-55 yaş arası kadın ve erkek katılımcılarda SAR446268 gen tedavisini inceliyor. Tedavi tek seferlik damar içi (intravenöz) uygulama şeklinde veriliyor ve DMPK mesajcı RNA düzeylerini azaltarak nöromusküler işlevi iyileştirme hedefi değerlendiriliyor. Çalışmanın A bölümünde 18-55 yaş arası katılımcılarda artan tek dozlar denenirken, güvenli ve etkili doz belirlendikten sonra B bölümünde 10-17 yaş dahil daha fazla katılımcı tedavi ediliyor; toplam süre yaklaşık 112 hafta (yaklaşık 2 yıl).

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

PHASE1/PHASE2

Durum

Katılımcı alıyor

Sponsor

Sanofi

Müdahale

SAR446268

Başlangıç

23.07.2025

Tahmini bitiş

27.04.2032

Ülkeler

United States, Argentina, Australia, Canada, Israel, United Kingdom

Merkezler

• Gainesville, United States
• Tampa, United States
• New York, United States
• Richmond, United States
• Buenos Aires, Argentina
• Brisbane, Australia
• Montreal, Canada
• Ramat Gan, Israel
• Newcastle upon Tyne, United Kingdom

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

Participants are eligible to be included in the study only if all of the following criteria apply:

* For Part A, participants must be 18 to 55 years of age inclusive, at the time of signing the informed consent.
* For Part B, participants must be as follows:

  * 10 to 17 years of age inclusive, at the time of signing the informed consent or,
  * 18 to 55 years of age inclusive, at the time of signing the informed consent.
* Participants with non-congenital onset DM1
* Participants presenting with signs of DM1 including myotonia and muscle weakness, as diagnosed previously by a clinician based on medical history.
* Participants with genetic diagnosis of DM1 \[cytosine-thymine-guanine (CTG) repeat length ≥50 in one allele from medical history\]
* Participants who can walk independently for at least 10 meters at screening (orthoses and ankle braces allowed).

Exclusion Criteria:

Participants are excluded from the study if any of the following criteria apply:

* Participants with neutralizing antibodies against the AAV.SAN011 capsid
* Participants with left ventricular ejection fraction \<50%
* Participants with liver or biliary disease defined as having at least one of the following:

  * ALT \>3 x ULN and AST \>3 x ULN
  * Alkaline phosphatase \>3 x ULN
  * Total bilirubin \>1.5 x ULN (unless has a genetically confirmed diagnosis of Gilbert's syndrome)
  * Direct bilirubin ≥1.5 x ULN
  * Participants with International normalized ratio \>1.5
* Participants with renal disease defined as:

  • Serum creatinine \>1.5 x ULN and/or estimated glomerular filtration rate \<60 mL/min/1.73 m2 as determined by Chronic Kidney Disease Epidemiology Collaboration (2021) for those age ≥18 years and Bedside Schwartz Equation for those \<18 years
* Participants with chronic respiratory insufficiency and on long term/hull-time ventilatory assistance requiring at least 6 hours per day for at least 21 consecutive days.
* Participants with contraindication to corticosteroid or with conditions that could worsen in the presence of corticosteroids, as determined by the Investigator.
* Participants with active hepatitis B or C infection; HBsAg (+), or HCV RNA (+), or current antiviral therapy for either.
* Participants with HBcAb (+) who are not amenable for prophylactic anti-HBV therapy or pre-emptive therapy guided by serial HBV DNA monitoring during the corticosteroids therapy.
* Participants at high risk for tuberculosis reactivation during the corticosteroids therapy as determined by the Investigator.
* Participants with a known HIV infection
* Participants with serious intercurrent illness that, in the opinion of the Investigator, would preclude participation in the study or potentially decrease survival.
* Participants with recent history of or current drug or alcohol abuse in the past 12 months prior to screening.
* Participants with history of tibialis anterior biopsy within 12 weeks from Day 1 or planning to undergo tibialis anterior biopsies during the duration of this clinical trial.
* Participants with significant developmental delay, intellectual disability, or behavioral neuropsychiatric manifestations as determined by the Investigator.
* Participants with previous systemic corticosteroids treatment at doses of \>5 mg/day within 15 days of Day 1
* Participants with previous treatment with anti-myotonic medication within 15 days of Day 1
* Participants not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures.
* Participants who have been classified as severe cardiac risk by the Investigator.

The above information is not intended to contain all considerations relevant to a participant's potential participation in a clinical trial.