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

Trial ID: NCT05753462

Interventional - Phase 1/2 - Unknown status

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

Conditions

• Duchenne Muscular Dystrophy

Interventions

• Phase 1, SQY51
• Phase 2a, SQY51 (cohort 1)
• Phase 2a, SQY51 (cohort 2)
• Phase 2a, SQY51 (cohort 3)

Eligibility

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.

Sponsor

Sqy Therapeutics, Biotrial

Source: ClinicalTrials.gov

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