Neurol. praxi. 2025;26(4):302-309 | DOI: 10.36290/neu.2025.004

Gene thepapy of (selected) neurological diseases

doc. MUDr. Jana Haberlová, Ph.D.¹, prof. MUDr. Tomáš Honzík, Ph.D.², prof. MUDr. Přemysl Jiruška, Ph.D.³

¹ Klinika dětské neurologie, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

² Klinika pediatrie a dědičných poruch metabolismu, 1. lékařská fakulta Univerzity Karlovy a Všeobecné fakultní nemocnice, Praha

³ Ústav fyziologie, 2. lékařská fakulta, Univerzita Karlova, Praha

According to the definition of the European Medicines Agency, gene therapy is a treatment based on the insertion of a recombinant gene into a patient's body for therapeutic, prophylactic, or diagnostic purposes. In recent years, there has been a growing number of clinical studies as well as an increasing number of approved gene therapies, particularly for rare monogenic diseases. The first examples in the field of neurology include gene therapy for spinal muscular atrophy, gene therapy for primary disorders of biogenic amine synthesis (aromatic L-amino acid decarboxylase [AADC] deficiency), and gene therapy for metachromatic leukodystrophy. In the United States, gene therapy has also been approved for Duchenne muscular dystrophy and X-linked adrenoleukodystrophy. Clinical studies are already underway for gene therapy targeting Dravet syndrome, Leber's hereditary optic neuropathy, and certain types of mucopolysaccharidoses. Additionally, gene therapy is being investigated for some forms of limb-girdle muscular dystrophies and for amyotrophic lateral sclerosis (ALS) linked to the SOD1 gene. The effectiveness and side effect profile of gene therapy are always specific to the particular diagnosis and therapeutic product. The high financial cost and ethical considerations surrounding gene therapy remain subjects for broader societal discussion.

Keywords: gene therapy, viral vector, treatment effectiveness, side effects.

Received: September 27, 2024; Revised: January 9, 2025; Accepted: January 16, 2025; Prepublished online: January 16, 2025; Published: September 29, 2025  Show citation