SQY51:
the first candidate
molecule
SQY Therapeutics has designed, developed and transition to the clinic a first ASO-tcDNA candidate for the treatment of Duchenne Muscular Dystrophy: SQY51 (skipping exon No. 51 of the DMD gene), suitable for nearly 15% of the patient population.
AVANCE 1 is a monocentric phase 1/2a study, EU CT number 2022-500703-49-01, aiming to evaluate the safety, pharmacokinetic, and pharmacodynamic properties of SQY51 in pediatric and adult patients with a genetically confirmed diagnosis of Duchenne Muscular Dystrophy. Twelve patients (aged over 6 years) are included in the AVANCE 1 trial. During the first part of the study, all patients received 6 ascending doses of SQY51 intravenously.
In the second part of the trial, participants who completed the dose escalation phase 1 were divided into 3 cohorts, each treated with a different dose of SQY51 for 32 weeks.
The clinical trial began in 2023 and is expected to conclude at the end of 2025 or early 2026.
The study is referenced in the ClinicalTrials.gov database: [Study Details | Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients with Duchenne Muscular Dystrophy | ClinicalTrials.gov](https://clinicaltrials.gov/ct2/show/NCT05566889)
A range of preclinical studies indicates that SQY51 has a satisfactory safety profile and reaches all organs and tissues affected by the disease. The expected outcome is that SQY51 restores the production of dystrophin at the muscle membrane, the missing protein in DMD and slow down or even halt the progression of the disease in Duchenne patients eligible for exon 51 skipping of the DMD gene.
The drug candidate SQY51 is the result of a collaboration between SQY Therapeutics and the research unit UMR1179 Inserm-UVSQ of the UFR Simone Veil – Santé at the University of Versailles Saint-Quentin-en-Yvelines (Paris-Saclay University).
Research work funded by the AMM-Only Project
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD, MIM no. 310200) is a lethal X-linked neuromuscular disorder affecting 1 in 3500 new-born males. The disease is caused by loss of function mutations in the DMD gene encoding a protein called dystrophin, essential for the proper functioning of muscle fibers. Absence of dystrophin results in relentless and highly disabling muscle degeneration. DMD boys lose the ability to walk between the ages of 10 and 13, and respiratory assistance is often required from adolescence. The involvement of the cardiac muscle affects life expectancy.
