Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 14
- 主要终点
- Rate of phenylalaninemia on blotter
研究概览
简要总结
Phenylketonuria is the most common inherited metabolic disease in France and is screened for neonatal exposure. Management consists of a strict and restrictive hypoproteic diet and the intake of amino acid substitutes and dietary supplements free of phenylalanine.One of the major difficulties, which is the source of many treatment failures, is the inappetence of the amino acid supplements required during a strict hypoproteic diet. New formulations, Glycomacropeptides (GMP), have recently appeared and are considered more palatable than conventional amino acid mixtures.
详细描述
Phenylketonuria is the most common inherited metabolic disease in France and is screened for neonatal exposure. Management consists of a strict and restrictive hypoproteic diet and the intake of amino acid substitutes and dietary supplements free of phenylalanine. If the benefits of treatment are indisputable in children in terms of cognitive prognosis, this benefit is discussed once brain development is complete, especially as many adult patients are no longer treated. However, cognitive, neurological and reversible white matter disorders undergoing treatment are increasingly reported in adult phenylketonurics. As a result, recent European recommendations advocate the maintenance of life-long treatment. One of the major difficulties, which is the source of many treatment failures, is the inappetence of the amino acid supplements required during a strict hypoproteic diet. New formulations, Glycomacropeptides (GMP), have recently appeared and are considered more palatable than conventional mixtures.
PRIMARY OBJECTIVE:
Demonstrate a better metabolic balance under GMP treatment than a conventional amino acid mixture in adult phenylketonuric patients when resuming treatment.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
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
- •Patient age ≥18 years on an empty stomach
- •Phenylketonuric patient Patient with Phenylalaninemia ≥ 900μmol / L on a blotter performed during the screening period (or average of blotter results ≥900 μmol / L if several blotters performed during the screening period)
- •Untreated or insufficiently treated patient: not taking or insufficiently Dietary foods for special medical purposes for his PKU, regardless of diet, at the discretion of the investigator
- •Patient having signed a free, informed and express consent
- •Patient requiring a diet restricted in natural proteins
排除标准
- •Protected patient: court bail
- •Patient with concomitant diseases / conditions that may compromise the study, at the discretion of the investigator
- •Participated in a clinical trial or trial to evaluate PKU foods or treatments in the last 7 days prior to inclusion or planned during the next 6 months
- •Participation in an interventional study with health products during the next 6 months
- •Pregnancy project within 6 months, pre-conception diet, pregnancy or breastfeeding
- •Refusal to consume only validated complements for the protocol
- •Phenylketonuria undergoing treatment with BH4
- •Allergy to the product under study
结局指标
主要结局
Rate of phenylalaninemia on blotter
时间窗: 6 months
Rate of phenylalaninemia on blotter measured bi-monthly during the 6 months of the study.
次要结局
- Therapeutic compliance(6 months)
- Bone remodeling markers(6 months)
- Evolution of neuropsychological tests(6 months)
- Evolution of quality of life (PKU QoL score), mood (POMS test - Fillion 1999), at M0, M3, M6.(6 months)
- Gastrointestinal tolerance at M3 and M6(6 months)
- MRI brain M0, M6 evolution(6 months)
- Nutritional and clinical markers evaluated at inclusion and 6 months of treatment(6 months)