Clinical trials: Hyperphenylalaninaemia
Phenylketonurias, Hyperphenylalaninaemia
Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of phenylalanine-free protein substitute tablets for young children with PKU aged of 7 years or older.
- Conditions
- Phenylketonurias, Hyperphenylalaninaemia, Tetrahydrobiopterin Deficiency
- Trial name
- NCT04375592
- Testing
- Phenylalanine-free protein substitute in tablet form (XPhe minis)
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Phenylketonuria, Mild Hyperphenylalaninemia
Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study
Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function; it is associated with an elevated level of Phenylalanine (Phe) in blood.
- Trial name
- NCT01924026
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- The Hospital for Sick Children
Phenylketonuria, Hyperphenylalaninemia
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
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.
- Trial name
- NCT01869972
- Where
- 2 sites in Canada
- Volunteers
- 32 people
- Sponsor
- Hamilton Health Sciences Corporation
Hyperphenylalaninemia, Phenylketonuria
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
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…
- Trial name
- NCT01541397
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
PKU, Hyperphenylalaninemia
Antioxidant Signature in Adult Patients With Phenylketonuria
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…
- Trial name
- StressOX-PCU (NCT02212288)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.
- Trial name
- KAMPER (NCT01016392)
- Where
- 69 sites in Austria, France and 7 more
- Volunteers
- 627 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, PAH Deficiency
Gene Therapy Clinical Study in Adult PKU
This is a Phase 1/2, open-label, randomized, concurrently-controlled, dose escalation study to evaluate the safety and efficacy of HMI-102 in adult PKU subjects with PAH deficiency.
- Trial name
- pheNIX (NCT03952156)
- Testing
- HMI-102
- Where
- 13 sites in United States
- Volunteers
- 10 people
- Sponsor
- Homology Medicines, Inc
Phenylketonuria, Hyperphenylalaninaemia
PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
The objective of this study is to evaluate the safety of long-term treatment with Kuvan.
- Trial name
- PKUDOS (NCT00778206)
- Testing
- Kuvan
- Where
- 45 sites in United States
- Volunteers
- 1,887 people
- Sponsor
- BioMarin Pharmaceutical