Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis: Pathophysiological and Clinical Implications. Pilot Study.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 6
- 试验地点
- 2
- 主要终点
- Maximal variation (delta maximum) of NTBI during the 5 days following a bloodletting
研究概览
简要总结
Hemochromatosis type 1 is one of the most frequent genetic disease since the genetic predisposition (homozygosity for the C282Y mutation of the HFE gene) is encountered in about 3/1000 white subjects (5/1000 in Brittany, France).
For the half of these predisposed subjects, the phenotypic expression of the disease needs a treatment. This treatment is based upon repeated bloodletting which is generally considered as simple, safe and effective.
Nevertheless, it is still questioned as regard its physiopathological justification and its clinical implications. Indeed, bloodletting could cause an increase of non-transferrin bound iron (NTBI) particularly for its reactive form called labile plasma iron (LPI) This adverse physiopathological effect could have clinical consequences and could be linked with articular consequences which can be aggravated by the treatment.
详细描述
Hemochromatosis type 1 is one of the most frequent genetic disease since the genetic predisposition (homozygosity for the C282Y mutation of the HFE gene) is encountered in about 3/1000 white subjects (5/1000 in Brittany, France).
For the half of these predisposed subjects, the phenotypic expression of the disease needs a treatment. This treatment is based upon repeated bloodletting which is generally considered as simple, safe and effective.
Nevertheless, it is still questioned as regard its physiopathological justification and its clinical implications. Indeed, bloodletting could cause an increase of non-transferrin bound iron (NTBI) particularly for its reactive form called labile plasma iron (LPI) This adverse physiopathological effect could have clinical consequences and could be linked with articular consequences which can be aggravated by the treatment.
The primary objective is to explore the effect of bloodletting upon plasmatic concentrations of NTBI.
The secondary objectives are to:
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Age 18 years or older
- •Homozygosity for the C282Y mutation of the HFE gene
- •With an indication of treatment by bloodletting (in accordance with the French HAS guidelines)
- •Ferritinemia ≥ 500µg/L
- •Transferrin saturation ≥ 75%
- •Never treated by bloodletting
- •Written informed consent
排除标准
- •Contraindication to bloodletting
- •Chronic inflammatory or dysmetabolic or neoplastic disease
- •Major cardiovascular disease
- •Excessive consumption of alcohol (≥ 3gr/day)
- •Treatment by iron chelators, C or E vitamins
- •Stay in altitude> 1500m in the month preceding the period Day 1
- •Patients under guardianship
- •Blood donation in the 3 past months
- •Night / shift workers
结局指标
主要结局
Maximal variation (delta maximum) of NTBI during the 5 days following a bloodletting
时间窗: Day 5
次要结局
- Kinetic of LPI plasmatic concentration during the 5 days following a bloodletting(Day 5)
- Kinetic of hepcidin plasmatic concentration during the 5 days following a bloodletting(Day 5)
- Hemoglobin(Day 9, day 10, day 11 and day 12)
- Circadian kinetic of hepcidine plasmatic concentration when no bloodletting is performed(Day 1)
- Maximal variation (delta maximum) of LPI during the 5 days following a bloodletting(Day 5)
- CRP(Day 9, day 10, day 11 and day 12)
- EPO(Day 9, day 10, day 11 and day 12)
- Kinetic of transferrin saturation during the 5 days following a bloodletting(Day 5)
- Maximal variation (delta maximum) of hepcidin during the 5 days following a bloodletting(Day 5)
- Soluble transferrin receptor(Day 9, day 10, day 11 and day 12)
- Circadian kinetic of NTBI plasmatic concentration when no bloodletting is performed(Day 1)
- Circadian kinetic of API plasmatic concentration when no bloodletting is performed(Day 1)
- Maximal variation (delta maximum) of transferrin saturation during the 5 days following a bloodletting(Day 5)
- Kinetic of NTBI plasmatic concentration during the 5 days following a bloodletting(Day 5)