Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements.
In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues.
Study participants do not undergo any specific therapeutic or diagnostic intervention.
調査の概要
研究の種類
入学 (実際)
連絡先と場所
研究場所
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Zurich、スイス、CH-8032
- University Children's Hospital
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ZH
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Zurich、ZH、スイス、8091
- University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
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参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
説明
Inclusion criteria:
- PKU (Phenylketonuria) or hyperphenylalaninemia
- male or female, minimum age 16y
- signed informed consent
Exclusion criteria:
- patient who can not comply with the study protocol (e.g. unable to fill in questionnaires by themselves or a representative)
研究計画
研究はどのように設計されていますか？
デザインの詳細
この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
時間枠：assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
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Assessed nutrients: Macronutrients: protein, fat, carbohydrates in g/kg/d Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium Vitamins: D, B12, B6, C, folic acid |
assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Phenylalanine level (umol/l)
時間枠：assessed at the end of the four-day nutrition protocol (see primary outcome)
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this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient)
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assessed at the end of the four-day nutrition protocol (see primary outcome)
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Plasma amino acid profile
時間枠：determined at a routine visit at the outpatient clinic, on average 1x per year
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this outcome measure is not study-specific and is collected as part of established routine care.
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determined at a routine visit at the outpatient clinic, on average 1x per year
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Concentrations of micronutrients, minerals and vitamins
時間枠：determined at a routine visit at the outpatient clinic, on average 1x per year
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assessed parameters: Ferritin, zinc, selenium, vitamin D, vitamin B12, folic acid. These outcome measures are not study-specific and are collected as part of established routine care |
determined at a routine visit at the outpatient clinic, on average 1x per year
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body weight (kg)
時間枠：determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months
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assessed as part of routine clinical care
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determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months
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協力者と研究者
スポンサー
捜査官
- 主任研究者：Michel Hochuli, MD PhD、University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
研究記録日
主要日程の研究
研究開始
一次修了 (実際)
研究の完了 (実際)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (見積もり)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- KEK-ZH-Nr. 2013-0120
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