D-半乳糖苷酶缺乏症患者的 D-半乳糖补充：一项多中心、开放标签、前瞻性初步临床试验的结果。
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
机构信息
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
出版信息
Orphanet J Rare Dis. 2021 Mar 20;16(1):138. doi: 10.1186/s13023-020-01609-z.
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients. Overall, there was no significant improvement but some milder patients did show positive clinical changes; also there was a trend toward improved glycosylation. Larger placebo-controlled studies are required to determine whether D-galactose could be used as supportive treatment in PMM2-CDG patients.Trial registration ClinicalTrials.gov Identifier: NCT02955264. Registered 4 November 2016, https://clinicaltrials.gov/ct2/show/NCT02955264.
PMM2-CDG 是最常见的先天性糖基化障碍（CDG），目前仅采用对症治疗。一些 CDG 已成功采用 D-半乳糖治疗。我们对 9 名 PMM2-CDG 患者进行了 D-半乳糖开放性试验，总体上没有明显改善，但一些症状较轻的患者确实显示出了积极的临床变化；此外，糖基化也有改善的趋势。需要进行更大规模的安慰剂对照研究，以确定 D-半乳糖是否可用于 PMM2-CDG 患者的支持性治疗。
试验注册
临床试验.gov 标识符：NCT02955264。于 2016 年 11 月 4 日注册，https://clinicaltrials.gov/ct2/show/NCT02955264。
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