Evaluation of the efficacy and safety of microdystrophin replacement therapy with delandistrogene moxeparvovec in patients with progressive Duchenne muscular dystrophy in real-life clinical practice

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Abstract

Progressive Duchenne muscular dystrophy is a severe progressive X-linked hereditary disease caused by mutations in the DMD gene encoding the dystrophin protein. The disease is characterized by early onset of muscle weakness in the proximal limbs, loss of the ability to walk independently, followed by damage to respiratory and cardiac functions, and premature death of patients in the second or third decade of life.

Until recently, patients were prescribed only symptomatic treatment aimed at slowing down the progression of the disease. Currently, several pathogenetic drugs have appeared aimed at restoring the synthesis of the dystrophin protein (microdystrophin). One of them, delandistrogen moxparvovec, is gene therapy drug based on a recombinant adeno-associated virus (AAVhr74).

The article presents the experience of using Delandistrogen moxparvovec in 17 patients with Duchenne muscular dystrophy aged 5 years 8 months to 9 years and 1 months. Preliminary data indicate a possible slowdown in the progression of the disease, which is manifested in stabilization or improvement of motor functions. In all patients, the use of this drug was safe, there were no adverse events associated with this therapy.

About the authors

Svetlana V. Mikhaylova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Research Centre for Medical Genetics

Author for correspondence.
Email: svetychvital@mail.ru
ORCID iD: 0000-0002-2115-985X

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571; 1 Moskvorechye St., Moscow 115522

M. E. Abdullina

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0009-0006-3602-3126

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571

N. A. Votyakova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0009-0007-4734-6526

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571

M. V. Zazhivikhina

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0000-0002-7595-9860

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571

E. L. Usacheva

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0009-0009-5259-6655

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571

E. E. Petryaykina

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0000-0002-8520-2378

Russian Children’s Clinical Hospital

Russian Federation, 117 Leninskiy Prospect, Moscow 119571

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