BackgroundCalcitriol, the active form of vitamin D (also known as 1,25‐dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA).ObjectivesBased on these results, we aimed measuring the effects of a calcitriol dose of 0.25 mcg/24h in the neurological function and frataxin levels when administered to FRDA patients for a year.Methods20 FRDA patients where recluted and 15 patients completed the treatment for a year. Evaluations of neurological function changes (SARA scale, 9‐HPT, 8‐MWT, PATA test) and quality of life (Barthel Scale and Short Form (36) Health Survey [SF‐36] quality of life questionnaire) were performed. Frataxin amounts were measured in isolated platelets obtained from these FRDA patients, from heterozygous FRDA carriers (relatives of the FA patients) and from non‐heterozygous sex and age matched controls.ResultsAlthough the patients did not experience any observable neurological improvement, there was a statistically significant increase in frataxin levels from initial values, 5.5 to 7.0 pg/μg after 12 months. Differences in frataxin levels referred to total protein levels were observed among sex‐ and age‐matched controls (18.1 pg/μg), relative controls (10.1 pg/μg), and FRDA patients (5.7 pg/μg). The treatment was well tolerated by most patients, and only some of them experienced minor adverse effects at the beginning of the trial.ConclusionsCalcitriol dosage used (0.25 mcg/24 h) is safe for FRDA patients, and it increases frataxin levels. We cannot rule out that higher doses administered longer could yield neurological benefits. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

中文翻译：

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骨化三醇治疗是安全的，并且可以提高弗里德赖希共济失调患者的 Frataxin 水平

背景骨化三醇是维生素 D 的活性形式（也称为 1,25-二羟基胆骨化醇），可改善弗里德赖希共济失调 (FRDA) 细胞模型的表型并增加 frataxin 水平。 目的基于这些结果，我们旨在测量骨化三醇剂量的影响当FRDA患者服用一年时，神经功能和frataxin水平的神经功能和frataxin水平为0.25 mcg/24h。方法20名FRDA患者重新接受治疗，15名患者完成了一年的治疗。对神经功能变化（SARA 量表、9-HPT、8-MWT、PATA 测试）和生活质量（Barthel 量表和简式 (36) 健康调查 [SF-36] 生活质量问卷）进行评估。在从这些 FRDA 患者、杂合子 FRDA 携带者（FA 患者的亲属）以及非杂合子性别和年龄匹配对照中获得的分离血小板中测量了 Frataxin 的含量。结果虽然患者没有经历任何可观察到的神经系统改善，但有统计学上的改善。 12 个月后，frataxin 水平从初始值 5.5 皮克/微克显着增加至 7.0 皮克/微克。在性别和年龄匹配的对照（18.1 pg/μg）、相对对照（10.1 pg/μg）和 FRDA 患者（5.7 pg/μg）中观察到 frataxin 水平（总蛋白水平）的差异。大多数患者对治疗的耐受性良好，只有部分患者在试验开始时出现了轻微的不良反应。 结论 使用的骨化三醇剂量（0.25 mcg/24 小时）对于 FRDA 患者是安全的，并且会增加 frataxin 水平。我们不能排除较高剂量、较长时间服用可能产生神经学益处的可能性。 © 2024 作者。运动障碍由 Wiley periodicals LLC 代表国际帕金森和运动障碍协会出版。