Phenylketonuria (PKU) and Hyperphenylalaninemia research hub
4 indexed studies · 3 currently recruiting
- not yet recruitingNA
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
This study looks at a new type of protein supplement for children and adults with PKU. It's a slow-release tablet designed to be easier to take. Researchers want to see if people find it acceptable and if they tolerate it well, helping improve choices for managing PKU.
United Kingdom - enrolling by invitationPHASE3
A Long-term Follow-up Study in Participants Who Received CTX001
This study is looking at the long-term safety and how well a treatment called CTX001 works for children and adults with serious blood conditions like beta-thalassemia and sickle cell disease. It's for people who have already had CTX001 in a previous study.
United States · Belgium · Canada - active not recruitingPHASE3
Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
This study is testing a new 'gene-editing' treatment called CTX001 for children aged 2-11 with a blood condition called beta-thalassemia. It aims to see how safe and effective this single treatment is, hoping to reduce their need for regular blood transfusions.
United States · Canada · Germany - not yet recruiting
EpiSign International: Expanding Epigenomic Testing in Rare Disease
This study looks at a new way to diagnose rare diseases called EpiSign. It uses special blood tests to examine your DNA to help find answers for people who haven't yet received a diagnosis for their suspected rare condition. Researchers hope it will speed up diagnosis.
United Kingdom