Dinikina Yulia, Dorofeeva Marina, Nakhusheva Fatima
Head of the Department of Chemotherapy for Hematologic Diseases & Bone Marrow Transplantation for Children, Almazov National Medical Research Center, Saint Petersburg, Russia.
Head of the Federal Center for Facomatoses, Veltischev Research & Clinical Institute for Pediatrics & Pediatric Surgery of the Pirogov Russian National Reserach Medical University, Moscow, Russia.
J Comp Eff Res. 2025 Mar;14(3):e240184. doi: 10.57264/cer-2024-0184. Epub 2025 Jan 21.
WHAT IS THIS SUMMARY ABOUT?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas. Plexiform neurofibromas can grow large and compress nearby tissues. This can cause severe pain, reduced movement, vision and hearing loss, and other medical problems. Some children can have plexiform neurofibromas removed surgically. Most children have tumors that cannot be removed by surgery (known as inoperable tumors). Children with inoperable plexiform neurofibromas can receive a medicine called selumetinib. This plain language summary includes important findings from two selumetinib studies in children with NF1 and inoperable plexiform neurofibromas: The SPRINT selumetinib studies are part of a clinical study program that looked at how well selumetinib works in treating children with symptomatic, inoperable plexiform neurofibromas. The SPRINT studies program included the first studies of this medicine done in children, called phase 1 and phase 2 studies. For the phase 2 study, some children had severe symptoms and some children did not. The group of children with severe symptoms is called group 1, and their results are included in this summary. The researchers monitored the participating children for up to 5 years in a long-term study to better understand how the treatment works over time. The NF1 caregivers experience study is a related study where caregivers shared their experiences of caring for children with NF1and plexiform neurofibromas.
WHAT WERE THE RESULTS?: A total of 74 children took part in the SPRINT phase 1 and phase 2 (group 1) study. Their ages ranged from 3 to 18.5 years, and their average age was 10.3 years. After more than 4 years of treatment, around 70% of the children (52 out of 74) had smaller tumors. For most children, the responses lasted beyond 1 year. There was a significant and lasting reduction in the intensity of the children';s tumor pain, noticeable as early as 2 months after starting the treatment. After 12 months, children reported their pain dropped from an average score of 2.2 to 0.6 and stayed low at 0.58 over 4 years. There was also an improvement in how much their pain affected the children's ability to do daily tasks. Some children had side effects related to selumetinib, although these were generally manageable. Results from the NF1 caregivers experience study showed caregivers of children with plexiform neurofibromas face significant impacts in physical, psychological, economic, and social aspects. These effects often result in a loss of productivity and difficulties with daily activity.
WHAT DO THE RESULTS OF THE STUDY MEAN?: Children with NF1 who have symptomatic, inoperable plexiform neurofibromas can benefit from selumetinib treatment. Selumetinib is generally well-tolerated, but it is important to monitor side effects during treatment. Caring for a child with NF1 and symptomatic, inoperable plexiform neurofibromas has a significant impact on family members and others providing daily care. This highlights the importance of improving treatment and quality of life for both children with the condition and their caregivers.
本摘要内容是什么？：1型神经纤维瘤病（也称为NF1）是一种罕见的遗传疾病。它会引发一系列从儿童期开始出现并随时间恶化的症状。一些患有NF1的儿童会患上一种名为丛状神经纤维瘤的非癌性神经肿瘤。丛状神经纤维瘤可能会长得很大并压迫附近组织。这可能导致剧痛、活动受限、视力和听力丧失以及其他健康问题。一些儿童的丛状神经纤维瘤可以通过手术切除。大多数儿童的肿瘤无法通过手术切除（即不可切除肿瘤）。患有不可切除丛状神经纤维瘤的儿童可以接受一种名为司美替尼的药物治疗。本通俗易懂的摘要涵盖了两项针对患有NF1和不可切除丛状神经纤维瘤儿童的司美替尼研究的重要发现：SPRINT司美替尼研究是一项临床研究项目的一部分，该项目旨在观察司美替尼治疗有症状的不可切除丛状神经纤维瘤儿童的效果。SPRINT研究项目包括了该药在儿童中开展的首批研究，即1期和2期研究。在2期研究中，一些儿童症状严重，一些儿童症状较轻。症状严重的儿童组称为第1组，本摘要纳入了他们的研究结果。研究人员在一项长期研究中对参与研究的儿童进行了长达5年的监测，以更好地了解随着时间推移该治疗方法的效果。NF1护理人员体验研究是一项相关研究，护理人员分享了他们照顾患有NF1和丛状神经纤维瘤儿童的经历。
研究结果如何？：共有74名儿童参与了SPRINT 1期和2期（第1组）研究。他们的年龄在3岁至18.5岁之间，平均年龄为10.3岁。经过4年多的治疗，约70%的儿童（74名中的52名）肿瘤缩小。对大多数儿童来说，这种反应持续超过1年。儿童肿瘤疼痛的强度有显著且持久的减轻，早在开始治疗2个月后就很明显。12个月后，儿童报告他们的疼痛评分从平均2.2分降至0.6分，并在4年中一直维持在较低的0.58分。疼痛对儿童日常活动能力的影响也有所改善。一些儿童出现了与司美替尼相关的副作用，不过这些副作用通常是可控的。NF1护理人员体验研究的结果显示，患有丛状神经纤维瘤儿童的护理人员在身体、心理、经济和社会方面都受到了重大影响。这些影响常常导致生产力下降和日常活动困难。
该研究结果意味着什么？：患有有症状的不可切除丛状神经纤维瘤的NF1儿童可以从司美替尼治疗中获益。司美替尼一般耐受性良好，但在治疗期间监测副作用很重要。照顾患有NF1和有症状的不可切除丛状神经纤维瘤的儿童对家庭成员和其他提供日常护理的人有重大影响。这凸显了改善该病患儿及其护理人员的治疗和生活质量的重要性。
