Makale detayı · 2021
Assessment of swallowing function in pediatric patients with Wilson’s disease: Results of a videofluoroscopic swallowing study
- Yıl
- 2021
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı Arab Journal of Gastroenterology
- Katalog eşleşmesi (ISSN) Arab Journal of Gastroenterology
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
OpenAlex · İngilizce
BACKGROUND: pre-messenger RNA splicing and increases levels of functional SMN protein. METHODS: We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support. Primary outcomes were safety, pharmacokinetics, pharmacodynamics (including the blood SMN protein concentration), and the selection of the risdiplam dose for part 2 of the study. Exploratory outcomes included the ability to sit without support for at least 5 seconds. RESULTS: A total of 21 infants were enrolled. Four infants were in a low-dose cohort and were treated with a final dose at month 12 of 0.08 mg of risdiplam per kilogram of body weight per day, and 17 were in a high-dose cohort and were treated with a final dose at month 12 of 0.2 mg per kilogram per day. The baseline median SMN protein concentrations in blood were 1.31 ng per milliliter in the low-dose cohort and 2.54 ng per milliliter in the high-dose cohort; at 12 months, the median values increased to 3.05 ng per milliliter and 5.66 ng per milliliter, respectively, which represented a median of 3.0 times and 1.9 times the baseline values in the low-dose and high-dose cohorts, respectively. Serious adverse events included pneumonia, respiratory tract infection, and acute respiratory failure. At the time of this publication, 4 infants had died of respiratory complications. Seven infants in the high-dose cohort and no infants in the low-dose cohort were able to sit without support for at least 5 seconds. The higher dose of risdiplam (0.2 mg per kilogram per day) was selected for part 2 of the study. CONCLUSIONS: In infants with type 1 spinal muscular atrophy, treatment with oral risdiplam led to an increased expression of functional SMN protein in the blood. (Funded by F. Hoffmann-La Roche; ClinicalTrials.gov number, NCT02913482.).
Konular
Atıflar
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437 atıf
OpenAlex cited_by_count (önbellek / veritabanı)
Yerel katalogda bu makaleye atıf yapan 8 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).
- Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls 2021
- Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 2022
- Gene and cell therapy of human genetic diseases: Recent advances and future directions 2024
- Gene and cell therapy of human genetic diseases: Recent advances and future directions 2024
- A year in pharmacology: new drugs approved by the US Food and Drug Administration in 2020 2021
- 285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands 2025
- Spinal Müsküler Atrofisi Olan Çocuk ve Ailesinin Hemşirelik Bakımı. (Nursing Care of the Child with Spinal Muscular Atrophy and Their Family 2022
- Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec 2022