Determination Study of Dry Beriberi in Patients Native to the Comoro Archipelago, in Mayotte (MABECO).
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Mutations on one of the alleles of the promoter of the gene TKTL1 (transketolase-like gene) in the homozygous state in the patients and not in the controls (heterozygotes or not carrier of the mutation).
研究概览
简要总结
The purpose of this study is to assess the existence of a genetic factor, suspected to be involved, aside from likely food deficiency contribution, in occurrence of dry beriberi, in patients who experienced dry beriberi and in a case group composed of 3 people, free from beriberi, within the same household.
详细描述
A team of 2 investigators, a nurse and an investigator speaking French, Shibushi and Shimaore (3 languages in use in Mayotte), will visit exposed patients who agreed to participate to the study.
3 controls, fulfilling inclusion criteria, will be recruited within the household by drawing lots.
Clinical examination and food survey by means of a questionnaire will be performed.
Blood samples will be drawn to determine thiamine status, vitamin B1 dosage, erythrocyte transketolase activity and thiamine pyrophosphate effect, analysis will be performed by Biomnis laboratory in Lyon.
For the genetic study, 4 drops of blood will be put down on Whatman paper and sent to Dr Johannes COY in Darmstadt Germany, for DNA extraction and PCR screening for mutations.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Native to the Comoro Archipelago (Grande Comore, Mayotte, Anjouan, Mohéli)
- •Fulfilling the clinical definition of the dry beriberi.
- •Both sexes.
- •Older than 15 years and 3 months (limit of the paediatrics).
- •Having signed and whose legal representatives signed the form of assent, having understood the information.
- •Benefiting from a social coverage regime.
- •Native to the Comoro Archipelago.
- •People living in the same household as the patient, sharing the same meals.
- •Both sexes.
- •Older than 15 years old and 3 months.
- •Free from beriberi.
- •With normal neurological examination.
- •Having signed and whose legal representatives signed the form of assent, having understood the information.
- •Benefiting from a social coverage regime.
排除标准
- •Aged under 15-year-old and 3 months.
- •For the patients and the witnesses, the presence of pathologies known to increase needs in vitamin B1 (cancer, infectious diseases, fever, hyperthyroïdism, chronic alcoholism).
结局指标
主要结局
Mutations on one of the alleles of the promoter of the gene TKTL1 (transketolase-like gene) in the homozygous state in the patients and not in the controls (heterozygotes or not carrier of the mutation).
时间窗: day 1
次要结局
- To evaluate Thiamine biological status (blood thiamine, erythrocyte transketolase activity and the thiamine pyrophosphate effect)(day 1)
- To evaluate food intakes in vitamin B1 and anti-thiamine factors (polyphenols).(day 1)