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Phenylketonuria

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2. Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU)

Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU) Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) U.S. Department of Health and Human Services Search FDA Submit search Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) Company: BioMarin Pharmaceutical Inc. Application Number: 761079 Approval Date: 05/24/2018 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. FDA

2018 FDA - Drug Approval Package

3. Sapropterin (Kuvan) - phenylketonuria (PKU)

Sapropterin (Kuvan) - phenylketonuria (PKU) 1 s sapropterin dihydrochloride, 100mg, soluble tablets (Kuvan ® ) SMC No 558/09 BioMarin Europe Limited 6 July 2018 The Scottish Medicines Consortium (SMC) has completed its assessment of the above product and advises NHS Boards and Area Drug and Therapeutic Committees (ADTCs) on its use in NHS Scotland. The advice is summarised as follows: ADVICE: following a full submission assessed under the orphan medicine process sapropterin dihydrochloride (...) (Kuvan ® ) is not recommended for use within NHS Scotland. Indication under review: the treatment of hyperphenylalaninaemia (HPA) in adults and paediatric patients of all ages with phenylketonuria (PKU) who have been shown to be responsive to such treatment. In phase III studies in patients with a diagnosis of PKU, sapropterin was associated with a statistically significant reduction in blood phenylalanine concentration over placebo in one study, and statistically significant increases

2018 Scottish Medicines Consortium

4. Phenylketonuria

for most patients involves restriction of dietary protein and phenylalanine, and supplementation with phenylalanine-free amino acid mixtures. Tetrahydrobiopterin (BH4)-responsive patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterised by elevated (typically >605 micromol/L [10 mg/dL]) blood phenylalanine (phe), which, if untreated, results in intellectual disability, seizures, and eczema. Patients (...) Phenylketonuria Phenylketonuria - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Phenylketonuria Last reviewed: February 2019 Last updated: September 2018 Summary A rare inborn error of metabolism associated with elevated blood phenylalanine. Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema. Caused by a deficiency of hepatic

2018 BMJ Best Practice

5. Phenylketonuria

for most patients involves restriction of dietary protein and phenylalanine, and supplementation with phenylalanine-free amino acid mixtures. Tetrahydrobiopterin (BH4)-responsive patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterised by elevated (typically >605 micromol/L [10 mg/dL]) blood phenylalanine (phe), which, if untreated, results in intellectual disability, seizures, and eczema. Patients (...) Phenylketonuria Phenylketonuria - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Phenylketonuria Last reviewed: February 2019 Last updated: September 2018 Summary A rare inborn error of metabolism associated with elevated blood phenylalanine. Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema. Caused by a deficiency of hepatic

2018 BMJ Best Practice

6. Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU). Full Text available with Trip Pro

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU). In phenylketonuria (PKU), a gene mutation in the phenylalanine metabolic pathway causes accumulation of phenylalanine (Phe) in blood and brain. Although early introduction of a Phe-restricted diet can prevent severe symptoms from developing, patients who are diagnosed and treated early still experience deficits in cognitive functioning (...) indicating shortcomings of current treatment. In the search for new and/or additional treatment strategies, a specific nutrient combination (SNC) was postulated to improve brain function in PKU. In this study, a long-term dietary intervention with a low-Phe diet, a specific combination of nutrients designed to improve brain function, or both concepts together was investigated in male and female BTBR PKU and WT mice.48 homozygous wild-types (WT, +/+) and 96 PKU BTBRPah2 (-/-) male and female mice received

2019 PLoS ONE

7. Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU. Full Text available with Trip Pro

Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU. Phenylketonuria (PKU) is a genetic disease characterized by the inability to convert dietary phenylalanine to tyrosine by phenylalanine hydroxylase. Given the importance of gut microbes in digestion, a genetically engineered microbe could potentially degrade some ingested phenylalanine from the diet prior to absorption. To test (...) this, a phenylalanine lyase gene from Anabaena variabilis (AvPAL) was codon-optimized and cloned into a shuttle vector for expression in Lactobacillus reuteri 100-23C (pHENOMMenal). Functional expression of AvPAL was determined in vitro, and subsequently tested in vivo in homozygous PAHenu2 (PKU model) mice. Initial trials of two PAHenu2 homozygous (PKU) mice defined conditions for freeze-drying and delivery of bacteria. Animals showed reduced blood phe within three to four days of treatment with pHENOMMenal

2017 PLoS ONE

8. Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU])

Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Lansdale (...) phenylketonuria (PKU), moderate PKU, mild PKU, or mild HPA. Untreated, PKU is associated with intellectual disability, behavior problems, seizures, and other neurological dysfunction. In addition, pregnant women with PKU are at risk of having a child with multiple congenital anomalies, as a result of the negative effects of excess Phe on embryonic development. Consequently, classic, moderate, and mild PKU require treatment in the form of a Phe-restricted diet and amino acid supplementation with a Phe-free

2014 Health Technology Assessment (HTA) Database.

9. A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults

A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. A Non-Interventional (...) Interview Study of Phenylketonuria (PKU) Adults (165-901) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03505125 Recruitment Status : Enrolling by invitation First Posted : April 23, 2018 Last Update Posted : November 14, 2018 Sponsor: BioMarin Pharmaceutical Information provided by (Responsible Party

2018 Clinical Trials

10. Living with phenylketonuria in adulthood: The PKU ATTITUDE study Full Text available with Trip Pro

Living with phenylketonuria in adulthood: The PKU ATTITUDE study Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured (...) questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (<4-5 times/day in 82

2018 Molecular genetics and metabolism reports

11. Living with Phenylketonuria: Lessons from the PKU community Full Text available with Trip Pro

Living with Phenylketonuria: Lessons from the PKU community We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria).631 participants (adults, n = 338 (...) ; parents/caregivers of children, n = 293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%, n = 114/236), educational difficulties (28%, n = 67/236), anxiety or depression (29%, n = 68/236), and gastrointestinal symptoms (34%, n = 97/282). Fifty one per cent (n = 120/236) described social exclusion; 17% (n = 41/236) had relationship issues with friends or family. Problems experienced by adults were: depression or anxiety (52

2018 Molecular genetics and metabolism reports

12. Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents Full Text available with Trip Pro

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention (...) of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents, but little is known about how the parents experience this process. This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified: control

2018 Journal of Genetic Counseling

13. Bacillibactin and Bacillomycin Analogues with Cytotoxicities against Human Cancer Cell Lines from Marine Bacillus sp. PKU-MA00093 and PKU-MA00092 Full Text available with Trip Pro

Bacillibactin and Bacillomycin Analogues with Cytotoxicities against Human Cancer Cell Lines from Marine Bacillus sp. PKU-MA00093 and PKU-MA00092 Nonribosomal peptides from marine Bacillus strains have received considerable attention for their complex structures and potent bioactivities. In this study, we carried out PCR-based genome mining for potential nonribosomal peptides producers from our marine bacterial library. Twenty-one "positive" strains were screened out from 180 marine bacterial (...) strains, and subsequent small-scale fermentation, HPLC and phylogenetic analysis afforded Bacillus sp. PKU-MA00092 and PKU-MA00093 as two candidates for large-scale fermentation and isolation. Ten nonribosomal peptides, including four bacillibactin analogues (1-4) and six bacillomycin D analogues (5-10) were discovered from Bacillus sp. PKU-MA00093 and PKU-MA00092, respectively. Compounds 1 and 2 are two new compounds and the ¹H NMR and 13C NMR data of compounds 7 and 9 is first provided. All

2018 Marine drugs

14. Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients Full Text available with Trip Pro

Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients Phenylketonuria (PKU) is an inborn error of metabolism associated with an increased risk of behavioural and mood disorders. There are currently no reliable markers for monitoring mood in PKU. The purpose of this study was to evaluate salivary serotonin as a possible non-invasive marker of long-term mood symptoms and central serotonin activity in patients with PKU.20 patients were (...) , or DASS anxiety scale scores, implying that salivary serotonin does not reflect central serotonin turnover. Additionally, this study suggests that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU.Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, suggesting that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU.

2018 Molecular genetics and metabolism reports

15. Adjuvant treatment for phenylketonuria (PKU)

Adjuvant treatment for phenylketonuria (PKU) Adjuvant treatment for phenylketonuria (PKU) Adjuvant treatment for phenylketonuria (PKU) Lindegren ML, Krishnaswami S, Fonnesbeck C, Reimschisel T, Fisher J, Jackson K, Shields T, Sathe NA, McPheeters ML Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Lindegren ML, Krishnaswami S, Fonnesbeck C (...) , Reimschisel T, Fisher J, Jackson K, Shields T, Sathe NA, McPheeters ML. Adjuvant treatment for phenylketonuria (PKU) Rockville: Agency for Healthcare Research and Quality (AHRQ). Comparative Effectiveness Review No. 56. 2012 Authors' objectives We systematically reviewed evidence on adjuvant treatment of phenylketonuria (PKU) and evidence for a target phenylalanine (Phe) level to minimize cognitive impairment. Authors' conclusions The strength of the evidence is moderate for a threshold effect of a Phe

2012 Health Technology Assessment (HTA) Database.

16. Sapropterin dihydrochloride for phenylketonuria. Full Text available with Trip Pro

Sapropterin dihydrochloride for phenylketonuria. Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients. Recent publications report a decrease in blood phenylalanine concentration in some patients treated with sapropterin dihydrochloride. We examined the evidence for the use of sapropterin (...) dihydrochloride to treat phenylketonuria. This is an update of a previously published Cochrane Review. To assess the safety and efficacy of sapropterin dihydrochloride in lowering blood phenylalanine concentration in people with phenylketonuria.We identified relevant trials from the Group's Inborn Errors of Metabolism Trials Register. Date of last search: 11 August 2014.We also searched ClinicalTrials.gov and Current controlled trials. Last search: 4 September 2014We contacted the manufacturers of the drug

2015 Cochrane

17. Protein substitute for children and adults with phenylketonuria. (Abstract)

Protein substitute for children and adults with phenylketonuria. Phenylketonuria is an inherited metabolic disorder characterised by an absence or deficiency of the enzyme phenylalanine hydroxylase. The aim of treatment is to lower blood phenylalanine concentrations to the recommended therapeutic range to prevent developmental delay and support normal growth. Current treatment consists of a low-phenylalanine diet in combination with a protein substitute which is free from or low (...) in phenylalanine. Guidance regarding the use, dosage, and distribution of dosage of the protein substitute over a 24-hour period is unclear, and there is variation in recommendations among treatment centres. This is an update of a Cochrane review first published in 2005, and previously updated in 2008.To assess the benefits and adverse effects of protein substitute, its dosage, and distribution of dose in children and adults with phenylketonuria who are adhering to a low-phenylalanine diet.We searched

2015 Cochrane

18. New Treatment for Phenylketonuria (PKU) Clears Brain Fog

New Treatment for Phenylketonuria (PKU) Clears Brain Fog New Treatment for Phenylketonuria (PKU) Clears Brain Fog | PLOS Blogs Network PLOS Blogs Staff Blogs Blogs by Topic Biology & Life Sciences Earth & Environmental Sciences Multi-disciplinary Sciences Medicine & Health Research Analysis & Scientific Policy Diverse perspectives on science and medicine Staff Blogs Blogs by Topic Biology & Life Sciences Earth & Environmental Sciences Multi-disciplinary Sciences Medicine & Health Research (...) distraught, recognizing his limitations in a way that he didn’t before the surgery. Dan Peterson is about Charlie’s age, and he, too, has recently experienced a new clarity of thinking thanks to a treatment. In Dan’s case it’s an enzyme substitution therapy called which he injects under his skin daily. FDA approved it on May 24 to treat phenylketonuria ( ). But unlike Charlie’s brief experience, Dan’s treatment should last. Awakenings In PKU, deficiency of an enzyme (phenylalanine hydroxylase) leads

2018 PLOS Blogs Network

19. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys Full Text available with Trip Pro

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs (...) ) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems. Currently there is no core outcome set (COS) for studies evaluating interventions for paediatric IMD. This protocol outlines a study that will establish COS for each of two relatively common IMD in children, phenylketonuria (PKU

2017 Trials

20. Development of the US English version of the phenylketonuria – quality of life (PKU-QOL) questionnaire Full Text available with Trip Pro

Development of the US English version of the phenylketonuria – quality of life (PKU-QOL) questionnaire Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its (...) treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e., France, Germany, Italy, The Netherlands, Spain, Turkey and the United Kingdom (UK)]. The objectives of our study were to develop and linguistically validate the PKU-QOL questionnaire for use in the United States (US).The UK versions served as a basis for the development

2017 Health and quality of life outcomes

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