Clinical trials: Hyperphenylalaninaemia
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Phenylketonuria
Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.
- Trial name
- NCT00244218
- Testing
- tetrahydrobiopterin (BH4)
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- The University of Texas Medical Branch, Galveston
Phenylketonuria
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children.
- Trial name
- NCT00065299
- Testing
- Restricted phenylalanine diet
- Where
- 3 sites in United States
- Volunteers
- 572 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Plasmodium Falciparum Malaria
Hyperphenylalaninemia in Cerebral Malaria
The purpose of this study is to see if children, who develop coma from malaria, are not making enough of a vitamin-like chemical, tetrahydrobiopterin (BH4), which is required for the brain to function normally.
- Trial name
- NCT00338520
- Where
- Tanzania
- Volunteers
- 285 people, healthy volunteers welcome
- Sponsor
- University of Utah
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