Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach
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
- 否
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
Karin Pichler
MD PhD
Medical University Innsbruck
