Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort
| العنوان: | Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort |
|---|---|
| المؤلفون: | Celia Hoebeke, Didier Scavarda, Isabelle Desguerre, Stéphane Auvin, Aline Cano, Samia Pichard, Brigitte Chabrol, Bastien Estublier |
| المساهمون: | Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| المصدر: | European Journal of Paediatric Neurology European Journal of Paediatric Neurology, Elsevier, 2021, 30, pp.17-21. ⟨10.1016/j.ejpn.2020.12.002⟩ |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, Pediatrics, medicine.medical_specialty, Cerliponase alfa, Gene mutation, Time-to-Treatment, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, medicine, Humans, Enzyme Replacement Therapy, Stage (cooking), Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, General Medicine, Enzyme replacement therapy, Tripeptidyl peptidase I, Recombinant Proteins, Natural history, Neuronal Ceroid Lipofuscinosis Type 2, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), France, business, 030217 neurology & neurosurgery |
| الوصف: | Introduction Neuronal Ceroid Lipofuscinosis type 2 (CLN2) is a neurodegenerative lysosomal disease which leads to early dementia and death without treatment. The recently available therapy consists of intracerebroventricular enzyme substitution: cerliponase alfa. In this report, we describe the evolution of the first French children treated with cerliponase alfa. Method CLN2 Clinical Rating Scale Motor-Language (CLN2 ML) assesses the motor and language evolution of CLN2 patients. We retrospectively studied patients' medical records: clinical symptoms, MRI conclusions, gene mutation, side effects of infusions, patient's age and CLN2 ML scores at diagnosis, at the beginning of enzyme replacement therapy (ERT) and at the last evaluation. Seven patients were included. Results Average age at diagnosis was 50 months ( ±10) with CLN2 ML score equal to 3.6 [1.5–5]. Average age at the beginning of ERT was 56 months ( ±13) with CLN2 ML score equal to 3.1 [1–5]. At the last available evaluation, average age was 82 months ( ±20) with CLN2 ML score equal to 2.8 [0–5]. Thus, in 26 months, the mean CLN2 ML score only decreased by 0.3 points. However, patients with a CLN2 ML score greater than three at the onset of ERT experienced a stabilisation or improvement of clinical signs, whereas patients with a CLN2 ML score less than three at baseline continue to deteriorate. Conclusion For patients starting ERT at an early stage of the disease, cerliponase alfa changes the natural history of the disease with a halt in disease progression or even a slight improvement in clinical symptoms. |
| تدمد: | 1532-2130 1090-3798 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727f4e4c97bb167672eec8b5a0f0a2fdTest https://pubmed.ncbi.nlm.nih.gov/33348105Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....727f4e4c97bb167672eec8b5a0f0a2fd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15322130 10903798 |
|---|