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Active clinical trials for "Phenylketonurias"

Results 11-20 of 147

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy...

PregnancyPhenylketonuria

The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended Metabolic Camp and compare their results to other women with PKU who have not attended the Metabolic Camp.

Recruiting7 enrollment criteria

Evaluation of PKU Explore France

Phenylketonurias

PKU explore France is an exploratory study to evaluate the acceptability of PKU explore, a food for special medical purposes, for use in the dietary management of phenylketonuria in infants from 6 months to 3 years of age, assessing participant adherence, GI tolerance, phe levels, growth and product palatability.

Recruiting14 enrollment criteria

Evaluation of the Express Plus Range

PhenylketonuriasPKU4 more

A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution of the express plus range to overall protein substitute intake over a 28 day period.

Recruiting17 enrollment criteria

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria...

Phenylketonuria (PKU)

This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.

Active16 enrollment criteria

AAV Gene Therapy Study for Subjects With PKU

Phenylketonuria (PKU)

This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of BMN 307 and will be followed for safety and efficacy.

Active11 enrollment criteria

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq®...

PhenylketonuriaMaternal

This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and breastfeeding.

Recruiting6 enrollment criteria

Baby Detect : Genomic Newborn Screening

Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1134 more

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Recruiting4 enrollment criteria

Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?

Phenylketonurias

Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal. Unsurprisingly, health-related quality of life (HrQol) is negatively affected if patients have to follow a dietary regime of this kind. Adherence to treatment in PKU is very variable. Factors of significant impact on adherence to treatment and well-being in chronic disease such as self-efficacy or parenting stress have not yet been widely investigated in PKU patients. The ideal treatment prescription (and guideline) recommends as much as necessary and as little as possible, based on the best evidence available. Patients should neither be deprived of treatment options nor be exposed to overtreatment. This study investigates adherence, metabolic control, HrQol in PKU patients treated by centres which follow different guidelines

Recruiting7 enrollment criteria

Evaluation of PKU Sphere in Maternal PKU

Maternal Phenylketonuria

This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing to take PKU sphere as part of their dietarty management.

Recruiting11 enrollment criteria

Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on...

Phenylketonurias

This is an open-label, randomized, 2-way crossover, monocentric controlled study in patients (≥ 16 years old) with phenylketonuria (PKU). The comparison will be between the test product (PKU GOLIKE, a prolonged-release amino-acids (AAs) mixture) and standard of care.

Not yet recruiting13 enrollment criteria
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