Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 42
- 试验地点
- 1
- 主要终点
- Adult intelligence quotient (IQ) score
研究概览
简要总结
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.
The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients.
The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with classic or atypical phenylketonuria detected in the neonatal period since 1971 in the department of Nord (59) and Pas de Calais (62).
- •Patients treated
- •Able to receive information
- •Patient beneficiary or affiliated to a social security
排除标准
- •Patients not screened (born outside French territory) or before
- •Untreated screened patients
- •Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet (Phenylalanine level <10 mg / dl or 600 µmol / l without diet to be confirmed)
- •Associated confirmed neurological pathology other than a complication of phenylketonuria.
- •Refusal to participate in the assessment of Intellectual Quotient in adulthood
- •Patient screened, lost to follow-up, found, having moved to another region and not wishing to return to the CHU for follow-up.
- •Inability to receive information and or express opposition
- •Opposition to participation in the study
结局指标
主要结局
Adult intelligence quotient (IQ) score
时间窗: Baseline
Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood
次要结局
- The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)(Baseline,at the last time of decline (= 10 years of low-protein diet))
- The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood(Baseline)
- The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.(Baseline, at the last time of decline (= 8 years of low-protein diet))
- The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)(baseline)