'Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series'
| العنوان: | 'Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series' |
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| المؤلفون: | O.M. Espitia Segura, N.I. Mancilla, L. Tavera, Z. Hernández, R.A. Naranjo |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100718-(2021) Molecular Genetics and Metabolism Reports |
| بيانات النشر: | Elsevier BV, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Medicine (General), Pediatrics, medicine.medical_specialty, Neuronal, QH301-705.5, Neuronal ceroid Lipofuscinosis, Disease, Cerliponase alfa, 03 medical and health sciences, R5-920, 0302 clinical medicine, Endocrinology, Genetics, medicine, Biology (General), Adverse effect, Molecular Biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Enzyme replacement therapy, medicine.disease, Phenotype, Cohort, Neuronal ceroid lipofuscinosis, Age of onset, business, Ceroid lipofuscinosis, 030217 neurology & neurosurgery, Research Paper |
| الوصف: | Introduction Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease. Methods Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment. Results An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation. Conclusion This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome. |
| تدمد: | 2214-4269 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5c698459353b1220c1d23fac136ab9Test https://doi.org/10.1016/j.ymgmr.2021.100718Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8e5c698459353b1220c1d23fac136ab9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22144269 |
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