Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral density, are a significant source of morbidity for this population with limited treatment options. Some of the challenges to developing such treatments include the lack of consensus regarding the optimal methods to assess bone health in neurofibromatosis type 1 and limited data regarding the natural history of these manifestations. In this review, the Functional Committee of the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration: (1) presents the available techniques for measuring overall bone health and metabolism in persons with neurofibromatosis type 1, (2) reviews data for use of each of these measures in the neurofibromatosis type 1 population, and (3) describes the strengths and limitations for each method as they might be used in clinical trials targeting neurofibromatosis type 1 bone manifestations. The Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration supports the development of a prospective, longitudinal natural history study focusing on the bone-related manifestations and relevant biomarkers of neurofibromatosis type 1. In addition, we suggest that the neurofibromatosis type 1 research community consider adding the less burdensome measurements of bone health as exploratory endpoints in ongoing or planned clinical trials for other neurofibromatosis type 1 manifestations to expand knowledge in the field.

中文翻译：

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评估 1 型神经纤维瘤病患者骨骼健康的潜在终点。

1 型神经纤维瘤病是一种遗传综合征，其特征是多种肿瘤和非肿瘤表现。脊柱侧弯、胫骨发育不良和骨矿物质密度低等骨骼相关问题是治疗选择有限的这一人群发病的重要来源。开发此类治疗方法面临的一些挑战包括，对于评估 1 型神经纤维瘤病骨骼健康的最佳方法缺乏共识，以及有关这些表现自然史的数据有限。在本次审查中，神经纤维瘤病和神经鞘瘤病国际协作反应评估功能委员会：(1) 介绍了测量 1 型神经纤维瘤病患者整体骨骼健康和代谢的可用技术，(2) 审查了每种技术的使用数据(3) 描述了每种方法的优点和局限性，因为它们可能用于针对 1 型神经纤维瘤病骨表现的临床试验。神经纤维瘤病和神经鞘瘤病国际合作中的反应评估支持开展一项前瞻性、纵向自然史研究，重点关注 1 型神经纤维瘤病的骨相关表现和相关生物标志物。此外，我们建议 1 型神经纤维瘤病研究界考虑添加在正在进行或计划中的其他 1 型神经纤维瘤病表现的临床试验中，将骨健康的负担较轻的测量作为探索性终点，以扩展该领域的知识。