Evaluating SQY51 for Duchenne Muscular Dystrophy in Children and Adults

Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, PK and PD of SQY51 in Paediatric and Adult Patients With a Genetically Confirmed Diagnosis of Duchenne Muscular Dystrophy

This study is testing a new drug called SQY51 to see if it is safe and effective for children and adults with Duchenne muscular dystrophy.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 12 (estimated)
• Ages: 6 Years and up
• Sex: Male
• Sponsor: Sqy Therapeutics (Academic / other)
• Locations: 1 site (Garches)
• Trial ID: NCT05753462 on ClinicalTrials.gov

What this trial studies

This clinical trial is a Phase 1/2a, open-label study designed to assess the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients diagnosed with Duchenne muscular dystrophy (DMD). The study will enroll 12 patients aged 6 years and older, both ambulant and non-ambulant, who will receive escalating doses of SQY51 every two weeks during the initial 13-week Phase 1. Following this, participants will continue into a 32-week Phase 2a, where they will be allocated into three non-randomized cohorts. The trial aims to gather critical data on the drug's effects and safety profile in this patient population.

Who should consider this trial

Good fit: Ideal candidates for this study are boys aged 6 years and older with a genetically confirmed diagnosis of Duchenne muscular dystrophy and specific mutations amenable to exon-51 skipping.

Not a fit: Patients who do not have Duchenne muscular dystrophy or those with mutations not amenable to exon-51 skipping may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could improve muscle function and quality of life for patients with Duchenne muscular dystrophy.

How similar studies have performed: While this approach is novel in its specific targeting of exon-51 skipping, similar studies have shown promise in the treatment of Duchenne muscular dystrophy.

Eligibility criteria

INCLUSION CRITERIA FOR PHASE 1:

* Boys of ≥6 years of age and ≥ 16 kg body weight.
* Ambulatory or non-ambulatory status,
* Patients and, if minor, their legal guardians, who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.
* Diagnosed with Duchenne Muscular Dystrophy (DMD), genotypically confirmed with DMD mutations amenable to exon-51 skipping.
* Stable hepatic and renal function.
* Left ventricular ejection fraction (LVEF) at screening ≥40%.
* If clinically indicated, approved concomitant treatment within standards of care guidelines for DMD, such as antihypertensive, vasodilators, lipid lowering, thyroid replacement, vitamins, mineral substitution, gastric protectors, and nutritional supplements.
* Non-invasive mechanical ventilation is permissive if \< 16 h/day.
* Being affiliated with a French social security.
* Informed consent form signed by the patient or, if minor, by the legal guardian(s).

INCLUSION CRITERIA FOR PHASE 2a:

Patients must have completed Phase 1 of the study.

EXCLUSION CRITERIA FOR PHASE 1 AND 2a:

* Patient with any serious medical/surgical or psychiatric condition/illness/history that in the opinion of the investigator would jeopardize patient's safety or would interfere with the study assessments/results, including insufficient vaccination against infectious diseases as recommended by national guidelines, medical history of infection with Hepatitis B,C and HIV.
* Patient with any known allergies to products likely to be used in the study (e.g., antiseptics, anesthetics), known hypersensitivity to any of the ingredients, or excipients of the study drug).
* Patient who participated in other investigational study within the last three months, including those with investigational drugs that aim at restoring dystrophin expression such as other antisense oligomers.
* Patient that received gene therapy.
* Patient with intellectual disability or behavioral problem such that they cannot comply with the study procedure.
* Patient with advanced cardiomyopathy and LVEF \< 40%. Patients with dysrhythmias and being treated for dysrhythmias. Patients with non-treated tachycardia.
* Patient for which orthopedic surgery is planned during the time of the study.
* Tracheostomized patients and dependent on invasive mechanical ventilation. Non-invasive mechanical ventilation ≥ 16 h/day. Predicted vital forced capacity \< 20%. Medical history with more than two respiratory decompensations requiring hospitalization during the previous year. No respiratory decompensation in the four months preceding enrolment.
* Patients on medications that can restore dystrophin expression, tamoxifen and other drugs without indication for DMD or paediatric population.
* Abnormal laboratory values in the clinically significant range.

Where this trial is running

Garches

• Hôpital Raymond Poincaré — Garches, France (Recruiting)

Study contacts

• Study coordinator: Marine Geoffroy-Guiraud, PhD

Conditions Duchenne Muscular Dystrophy; Duchenne; Dystrophin; DMD; Exon skipping; Exon 51; ASO therapeutics; Tricyclo-DNA