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Active clinical trials for "Phenylketonurias"

Results 61-70 of 147

Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU)

Phenylketonurias

Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). Patients with mild PKU or partly responsive to the drug synthetic tetrahydrobiopterin (BH4) (Kuvan®) can change to a more relaxed diet. However due to difficulty to adapt their diet, these patients are at risk of an imbalanced nutritional status and an insufficient intake of specific micronutrients, essential amino acids and DHA (Docosahexaenoic acid). The study product is designed to improve the nutritional status of the patients. The study investigates if the nutritional status is indeed improved following 24 week use of the study product, and also the study aims to evaluate product acceptability.

Completed18 enrollment criteria

A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia...

BH4 DeficiencyHyperphenylalaninemia

This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of CNSA-001 in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary tetrahydrobiopterin (BH4) deficiency.

Completed31 enrollment criteria

Evaluation of PKU Explore

PhenylketonuriaInborn Errors of Metabolism

To evaluate the acceptability, tolerance and effect on metabolic control of PKU Explore, a renovated Phe free protein substitute for the dietary management of PKU in children from 6 months to 5 years.

Completed10 enrollment criteria

Evaluation of PKU Start

PhenylketonuriaInborn Errors of Metabolism

To evaluate the acceptability, tolerance and effect on metabolic control of PKU Start, a new Phe free protein substitute for the dietary management of PKU in infants from birth.

Completed5 enrollment criteria

The Effectiveness of Kuvan in Amish PKU Patients

Phenylketonuria

The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial. The population of interest has a high frequency of a specific splice site mutation, the 1066-11G>A mutation. This splice site mutation activates a cryptic splice site resulting in an in frame insertion of 9 nucleotides preceding exon 11. This leads to protein conformational changes and abrogation of function. Previous studies of this genotype have indicated <1% residual activity of the PAH enzyme and an insignificant responsiveness to Saproterin. However, in this specific study Phe levels were evaluated only over 24 hours after a single-dose BH4 challenge at the standard dose of 20mg/kg. Based on new clinical information, the investigators hypothesize that if given a prolonged trial of Saproterin at a higher dose, Amish patients with PKU, specifically those homozygous for the c.1066-11G>A mutation, will have a significant reduction in Phe levels or an increase in Phe tolerance and/or improvement in executive functioning and quality of life.

Completed15 enrollment criteria

Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria...

Phenylketonuria

This double-blind, placebo-controlled, randomized study is designed to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with PKU.

Completed16 enrollment criteria

A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult...

Phenylketonuria

Sapropterin dihydrochloride (subsequently referred to as sapropterin) (Kuvan®) was approved by the FDA for the treatment of hyperphenylalaninemia in 2007. Preclinical and clinical studies and post-marketing surveillance have not demonstrated any specific cardiovascular concerns with sapropterin (Kuvan®). Nonetheless, nonantiarrhythmic drugs may have the potential to prolong QT interval, leading to potentially fatal ventricular tachycardias, including torsades de pointes. As part of the post-marketing commitment, a thorough QT/QTc study will be conducted according to ICH guidelines.

Completed43 enrollment criteria

Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)

Phenylketonuria

This study is an extension of previous rAvPAL-PEG studies. Administration of rAvPAL-PEG will be continued to assess whether long-term dosing of rAvPAL-PEG is safe and can maintain reduced blood Phe concentrations in PKU subjects.

Completed16 enrollment criteria

Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria

Phenylketonuria

For individuals with Phenylketonuria (PKU), the investigators hypothesize that glycomacropeptide will provide an acceptable form of low-phenylalanine dietary protein that will improve dietary compliance, blood phenylalanine levels, cognitive function, and ultimately quality of life compared with the usual amino acid based diet. The study is funded by the Food and Drug Administration (FDA) Office of Orphan Products Development Grants Program, R01 FD003711.

Completed7 enrollment criteria

Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period

Phenylketonuria

The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin dihydrochloride) 20 milligram per kilogram per day (mg/kg/day) for 28 days.

Completed21 enrollment criteria
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