KOGNITO - Kuvan®’s effect in children with phenylketonuria
Research type
Research Study
Full title
A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive (NC) Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years [KOGNITO]
IRAS ID
130164
Contact name
Maureen Cleary
Contact email
Sponsor organisation
Merck Serono - Global Development & Medical
Eudract number
2009-015844-41
ISRCTN Number
n/a
Research summary
Phenylketonuria (PKU) is a rare metabolic disease caused by a mutation in the gene for a liver enzyme called phenylalanine hydroxylase (PAH). Defects in this gene can eventually lead to high levels of phenylalanine (Phe) in the blood, known as hyperphenylalaninemia [HPA].
HPA is associated with toxicity in the nervous system, leading to developmental delays in the nervous system in infants and young children and reduced neurocognitive (NC) function in older children and adults. Clinically significant HPA due to defects in the PAH gene is referred to as PKU.
Current management of PKU involves dietary restriction of Phe, by limiting whole protein intake and providing medical food such as Phe-free protein supplements to meet the dietary need for protein. Before Phe-restricted dietary treatment was introduced in the 1960s, PKU led to severe mental retardation. Intelligence Quotient (IQ) is the most recognised, standardised and general measure of intelligence of NC function in patients with PKU and therefore, this study will measure the long-term outcomes on NC function using IQ testing at several time points throughout the 7 year study.
Kuvan® is an approved and marketed drug for the treatment of HPA due to PKU, in adult and paediatric patients 4 years of age and over. This phase IV study is being conducted to address a follow-up measure that was agreed upon as part of the marketing authorisation for Kuvan®, in order to evaluate the long-term NC outcomes, growth and safety in children with PKU treated with Kuvan®.
REC name
London - Riverside Research Ethics Committee
REC reference
13/LO/0945
Date of REC Opinion
25 Jul 2013
REC opinion
Further Information Favourable Opinion