Türkiye'de Tip 2 ve Tip 3 Spinal Musküler Atrofide Nusinersen Tedavisine İlişkin Tek Merkez Deneyimi (P4-13.010)
AAN Annual Meeting, Washington, Amerika Birleşik Devletleri, 2 - 07 Nisan 2022, cilt.98, sa.13010, ss.2627, (Özet Bildiri)
- Yayın Türü: Bildiri / Özet Bildiri
- Cilt numarası: 98
- Doi Numarası: 10.1212/wnl.98.18_supplement.2627
- Basıldığı Şehir: Washington
- Basıldığı Ülke: Amerika Birleşik Devletleri
- Sayfa Sayıları: ss.2627
- İstanbul Üniversitesi Adresli: Evet
Özet
Abstract
Objective:
To analyze the effect of intrathecal nusinersen in spinal muscular atrophy type 2 and type 3.
To analyze the effect of intrathecal nusinersen in spinal muscular atrophy type 2 and type 3.
Background:
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by the mutations in the survival motor neuron 1 (SMN1) gene. Nusinersen is the first approved disease-modifying therapy in spinal muscular atrophy (SMA).
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by the mutations in the survival motor neuron 1 (SMN1) gene. Nusinersen is the first approved disease-modifying therapy in spinal muscular atrophy (SMA).
Design/Methods:
Herein, we evaluate the clinical features and treatment responses of 35 patients out of 52, treated with nusinersen with SMA type 2 or type 3 who completed the first four loading doses. Patients were treated with intrathecal administration at day 1 (baseline), day 29, day 85, and day 274, depending on a scheme defined by Turkey Pharmaceuticals and Medical Devices Agency. The remaining 17 patients are still on the first three loading doses.
Herein, we evaluate the clinical features and treatment responses of 35 patients out of 52, treated with nusinersen with SMA type 2 or type 3 who completed the first four loading doses. Patients were treated with intrathecal administration at day 1 (baseline), day 29, day 85, and day 274, depending on a scheme defined by Turkey Pharmaceuticals and Medical Devices Agency. The remaining 17 patients are still on the first three loading doses.
Results:
The mean age of onset was 5.30 ± 4.47 (between 10 months and 16 years), and 18 patients were female. Thirty-one patients were type 3, and four patients were type 2. The mean age at the initial nusinersen dose was 26.32 ± 9.38 (between 13 and 47 years). Eighteen patients were ambulatory. Lumbar puncture was performed with X-Ray guidance in 5 patients due to severe scoliosis. The mean HMFSE score in the baseline visit was 31.28 ± 20.64 (between 0 and 60). In a mean duration of 573.22 ± 120.44 (between 299 and 770) days, HMFSE score was increased by 4.42 ± 3.32 (between 0 and 9) points. Increase in the HMFSE score was higher in type 3 patients compared to type 2 (2.25 vs. 4.70, p=0.04).
The mean age of onset was 5.30 ± 4.47 (between 10 months and 16 years), and 18 patients were female. Thirty-one patients were type 3, and four patients were type 2. The mean age at the initial nusinersen dose was 26.32 ± 9.38 (between 13 and 47 years). Eighteen patients were ambulatory. Lumbar puncture was performed with X-Ray guidance in 5 patients due to severe scoliosis. The mean HMFSE score in the baseline visit was 31.28 ± 20.64 (between 0 and 60). In a mean duration of 573.22 ± 120.44 (between 299 and 770) days, HMFSE score was increased by 4.42 ± 3.32 (between 0 and 9) points. Increase in the HMFSE score was higher in type 3 patients compared to type 2 (2.25 vs. 4.70, p=0.04).
Conclusions:
Our study provides one of the biggest type 2 and type three cohorts from Turkey. Functional improvement in our patients showed that nusinersen is effective in both types.https://doi.org/10.1212/WNL.98.18_supplement.2627
Our study provides one of the biggest type 2 and type three cohorts from Turkey. Functional improvement in our patients showed that nusinersen is effective in both types.https://doi.org/10.1212/WNL.98.18_supplement.2627