Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy

• Status: Not yet recruiting
• Trial end date: 2025-02-01
• Target enrollment: 0
• Participant gender: Male

Summary

This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Sqy Therapeutics
• Collaborator: Biotrial

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.