Observational Study of Pegvaliase-Naïve Adults with Phenylketonuria

• Research type

  Research Study

• Full title

  A Non-Interventional Observational Study of Pegvaliase-Naïve Adults with Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews

• IRAS ID

  244263

• Contact name

  Robin Henry Lachmann

• Sponsor organisation

  BioMarin Pharmaceutical Inc.

• Duration of Study in the UK

  0 years, 5 months, 18 days

• Research summary

  The study is conducted by BioMarin Pharmaceutical Inc, to understand symptoms in adults with Phenylketonuria (PKU) and to evaluate questionnaires that may be used in future PKU clinical trials. Phenylketonuria is a rare inherited disorder. Healthy bodies break down protein in foods such as meat and fish into amino acids (building blocks of protein). These amino acids are then used to make other proteins. Any amino acids that aren't needed are broken down further and removed from the body. People with PKU can't break down the amino acid phenylalanine, which then builds up in the blood and brain and can lead to brain damage.

  The sponsor wants to understand more about the experience of PKU adults by interviewing patients, their observers (such as friends and family members), and clinical experts who treat PKU patients. The sponsor also wants to know if the questionnaires are understandable and meaningful. This study involves research, specifically interviews that last approximately 90 minutes. There are two parts to the study: Part A and Part B.

  In Part A of the study, about 30 adult patients with PKU, 15 observers, and 8 clinical experts will be interviewed about the symptoms and experiences of adults with PKU. In Part B of the study, about 20 adult patients with PKU, 15 observers, and 8 clinical experts will be interviewed about several questionnaires used to measure the PKU symptoms and experiences identified in Part A. The interviewer will ask their opinions of the questionnaires and how effectively they address PKU symptoms.

  Up to 50% of the patient and observer interview participants from Part A will also participate in Part B. Other patients and observers will participate in only one of the parts.

• REC name

  North East - Tyne & Wear South Research Ethics Committee

• REC reference

  18/NE/0152

• Date of REC Opinion

  11 May 2018

• REC opinion

  Favourable Opinion