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临床试验/NCT02823925
NCT02823925已完成不适用

Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach

Medical University Innsbruck0 个研究点目标入组 3 人开始时间: 2013年2月最近更新:
适应症
相关药物

试验速览

阶段
不适用
状态
已完成
发起方
入组人数
3
主要终点
bone mineral density

研究概览

简要总结

Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. The investigators reviewed the outcome of patients affected with MONA and treated with intravenous bisphosphonates in the clinical Center.

详细描述

Assessment of the patients:

After informed consent had been obtained from the patients affected from MONA spectrum disorder the investigators assessed the patients regarding the following characteristics: consanguinity, clinical symptoms at diseases on-set, age at on-set of symptoms and age at diagnosis, cognitive development, progression of clinical symptoms related to the diagnosis, molecular investigations, associated disorders as well as therapies besides bisphosphonate therapy. Informed consent from the patients was also obtained to publish the patient's photographs. All investigations are performed according to the relevant ethical guidelines.

Bisphosphonate therapy:

The reported patients received intravenous bisphosphonate therapy either with pamidronate (1 mg/kg/d on two consecutive days every 3 months) or zoledronate (a single dose of 0.05 mg/kg/day every 6 month).

Evaluation of disease progression and therapeutic success:

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Retrospective

入排标准

性别
All
接受健康志愿者

入选标准

  • genetically confirmed MONA spectrum disorder
  • treatment with bisphosphonates intravenously
  • positive informed consent

排除标准

  • genetically confirmed MONA spectrum disorder treated otherwise than with bisphosphonates
  • oral treatment with bisphosphonates in MONA spectrum disorder
  • other inherited osteolysis syndromes than MONA spectrum disorder

结局指标

主要结局

bone mineral density

时间窗: 10 years

次要结局

未报告次要终点

研究者

发起方
Medical University Innsbruck
申办方类型
Other
责任方
Principal Investigator
主要研究者

Karin Pichler

MD PhD

Medical University Innsbruck

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