Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Article
en En
| MEDLINE
| ID: mdl-31597037
ABSTRACT
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila's Miracle Foundation and others.).
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
Mutagénesis Insercional
/
Oligonucleótidos Antisentido
/
Enfermedades Raras
/
Medicina de Precisión
/
Lipofuscinosis Ceroideas Neuronales
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
N Engl J Med
Año:
2019
Tipo del documento:
Article