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Hyperphenylalaninemia clinical trials

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NCT ID: NCT03519711 Completed - Clinical trials for Hyperphenylalaninemia

A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

Start date: January 3, 2019
Phase: Phase 1/Phase 2
Study type: Interventional

This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of PTC923 (CNSA-001) in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary BH4 deficiency (PBD).

NCT ID: NCT02212288 Completed - PKU Clinical Trials

Antioxidant Signature in Adult Patients With Phenylketonuria

StressOX-PCU
Start date: September 2014
Phase: Phase 4
Study type: Observational

To date, oxidative stress in PKU has been evaluated only with fragmented approaches.The aim of the present study is to investigate oxidative stress in PKU with more comprehensive methods.The relationship between oxidative stress and metabolic disturbances (hyperPhenylalaninemia) will also be studied.

NCT ID: NCT01869972 Completed - Phenylketonuria Clinical Trials

Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

Start date: May 2013
Phase: N/A
Study type: Observational

Phenylketonuria (PKU) is a rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children. This brain damage can be prevented if a special low phenylalanine diet is started soon after birth. A new drug, sapropterin, can also lower phenylalanine levels in some patients. PKU therapy is monitored by measuring the blood phenylalanine every week, with the goal to keep the level within a target range. Recently, studies have suggested that the variation in the blood phenylalanine may be just as important as the absolute blood phenylalanine level for brain outcome. The investigators will look at the variation in blood phenylalanine level over 24 hours to see how much the level changes. The investigators will measure this in patients with typical PKU who are compliant with the diet and in patients who are not compliant with the diet. The investigators will also measure this in patients with "mild" PKU who do not usually have as high levels of phenylalanine. Finally, the investigators will see if patients on sapropterin have lower variation.

NCT ID: NCT01619722 Completed - PKU Clinical Trials

Study of a National Cohort of Adult Patients With Phenylketonuria

ECOPHEN
Start date: March 15, 2012
Phase:
Study type: Observational

Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adolescence. Unlike other countries, in France there are no recommendations for a plan "for life". Knowledge about the natural history of PKU in adulthood, the effects of pediatric age, the frequency of complicated shapes, and prognostic factors are poorly documented. On the other hand, there is no consensus on the therapeutic management of this disease in adulthood and monitoring that could be directed towards the detection of neurological disorders and nutrition. Social integration and quality of life of adults PKU patients living in France have not been studied.

NCT ID: NCT01541397 Terminated - Phenylketonuria Clinical Trials

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

Start date: June 2011
Phase: N/A
Study type: Interventional

Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.