GMP case studies in PKU and TYR
Research type
Research Study
Full title
Evaluating the tolerance, safety and acceptability of GMP-based protein substitutes for the dietary management of phenylketonuria and tyrosinaemia in children and adults: a case study series
IRAS ID
284355
Contact name
Rebecca Stratton
Contact email
Sponsor organisation
Nutricia Ltd (UK)
Clinicaltrials.gov Identifier
6496, CMPS ID
Duration of Study in the UK
1 years, 9 months, 30 days
Research summary
Phenylketonuria (PKU) and Tyrosinaemia (TYR) are rare inherited metabolic disorders of amino acid metabolism. PKU is characterised by an inability to metabolise the essential dietary amino acid phenylalanine (Phe) into tyrosine (Tyr), leading to extremely high levels of Phe within the blood and brain, which damages neurological health. The dietary management of PKU involves restricting dietary sources of Phe. Tyrosinaemia (TYR) is characterised by the inability to metabolise the dietary amino acid Tyr, leading to hepatic, renal and neurological complications. The dietary management of TYR involves restriction of dietary sources of Tyr and Phe (as Phe is converted into Tyr). The dietary management of PKU and TYR promote optimal metabolic control whilst meeting all other amino acid and nutrient requirements. As Phe and Tyr are present in nearly all dietary proteins, management requires a very low protein diet, supplemented with Phe-free (for PKU) or Phe- and Tyr-free (for TYR) amino acid-based protein substitutes. However, compliance with the diet is often poor which can lead to preventable, lifelong mental and physiological impairments. Reasons for non-compliance often revolve around the strong taste of amino acid-based protein substitutes.
Three new protein substitutes have been developed to help with compliance in PKU and TYR: PKU GMPro Ultra, PKU and TYR GMPro Mix-in. A series of case-studies will evaluate the acceptability, compliance, gastrointestinal tolerance and safety of PKU GMPro Ultra, PKU and TYR GMPro Mix-in, in 45 patients with PKU and TYR respectively, aged over 3 years (15 patients per product). This case study series will last 29 days overall, including a 1-day baseline period followed by a 28-day intervention period, conducted across multiple specialist metabolic centres to meet the UK ACBS and GMS requirements. A case studies series is undertaken due to the rarity of these conditions and the difficulty recruiting these patients.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
20/SW/0118
Date of REC Opinion
16 Sep 2020
REC opinion
Further Information Favourable Opinion