Slide 1: Assessment of the Treatment and Management Landscape of Phenylketonuria: ATLAS Survey Study in Japan
Assessment of the Treatment and Management LAndScape of phenylketonuria: ATLAS survey study in Japan H Nyuzuki1, KS Louie2, O Sazova2, M Nagao3, A Muranaka4, C Numakura5, M Ishige6, Y Nakajima7, T Hamazaki8, K Nakamura9 1Niigata University Graduate School of Medical and Dental Sciences, Niigata, Jap
Slide 2: COI disclosure (BioMarin)
日本先天代謝異常学会 ＣＯ Ｉ 開示 筆頭発表者名： 入月 浩美 Employees: KS Louie, O Sazova Study investigators: H Nyuzuki, M Nagao, A Muranaka, C Numakura, M Ishige, Y Nakajima, T Hamazaki, K Nakamura (BioMarin)
Slide 3: Background: PKU and its management in Japan
• PKU is caused by PAH enzyme deficiency, resulting in elevated Phe in the blood and tissues that can cause depression, anxiety, memory problems, headaches, and other neurological and psychiatric symptoms1 • In Japan, prevalence is estimated at 1:125,000 and incidence at 1:46,000–70,000 live births2
Slide 4: Objective of the ATLAS study
• The objective of the Assessment of the Treatment and Management LAndScape of phenylketonuria (ATLAS) study was to better understand the global treatment landscape of patients with PKU across different countries and regions • ATLAS was a global HCP web-based survey to describe management practices,
Slide 5: Methods: web-based HCP survey in Japan
• A web-based survey of HCPs who treat patients with PKU in Japan was conducted from May to July 2024 • The protocol was approved by local ethical review boards in compliance with regulations in each country • Eligible clinics were those that managed ≥5 active patients with PKU, defined as patients
Slide 6: Clinic characteristics and patient numbers
All participating clinics Clinic characteristic (N=8) • 8 clinics met criteria for inclusion Years managing patients with PKU Mean (SD) 21.6 (11.87) and completed the survey Median (min, max) 21.5 (3.0, 40.0) • Clinics were all academic practices Practice setting, n (%) and had a median of 21.5 year
Slide 7: Visit frequency by age group
100 6.9 4.3 6.7 6.7 10.0 12.0 28.6 11.1 13.3 10.0 80 Actual visit frequency Patients With PKU (%) Twice a month 60 Monthly 86.2 91.3 60.0 62.2 Quarterly 50.0 72.0 66.7 Twice a year 40 Yearly <Yearly 20 Not reported 21.4 13.3 8.0 20.0 13.3 6.9 4.3 4.0 4.4 0 0–4 5–12 13–17 18–29 30–44 45+ Current/plan
Slide 8: Phe monitoring frequency by age group
100 3.4 8.7 6.7 6.7 10.0 8.0 15.6 80 26.7 Actual Phe monitoring frequency Patients With PKU (%) Twice a month 65.5 60 Monthly 100.0 87.0 55.6 Quarterly 78.0 90.0 Twice a year 40 60.0 Yearly <Yearly 20 31.0 6.7 6.0 13.3 4.3 4.0 6.7 0 0–4 5–12 13–17 18–29 30–44 45+ Current/planned (n=14) (n=29) (n=23)
Slide 9: Treatment modalities by age group
MNT Sapropterin ± MNT Other • The majority (76.7%, 135/176) 100 4.0 4.4 of active patients across the 8.9 20.0 lifespan were managed with 26.1 20.0 MNT alone 80 42.9 37.9 Patients With PKU (%) • Sapropterin ± MNT was more commonly used in 60 younger patients 100.0 80.0 40 86.7 76.0 73.9 62.1 57.1 20
Slide 10: Blood Phe levels by age group
100 7.1 6.9 6.7 10.0 • Blood Phe was in the 16.0 13.8 26.7 recommended guideline 80 34.8 26.7 range of 120–360 µmol/L Patients With PKU (%) for most patients aged 36.0 <120 µmol/L 0–12 years 60 26.7 120 to ≤360 µmol/L 17.4 • The percentage with 78.6 90.0 >360 to ≤600 µmol/L blood Phe in this range 7
Slide 11: Neurocognitive assessments
• 75% of clinics (n=6) administered neurocognitive assessments – Reasons for non-administration included time constraints, lack of trained staff, and lack of patient willingness • A range of age-appropriate scales were used, with the most common being the Wechsler Intelligence Scale for Children, 4t
Slide 12: Conclusions
This was the first survey of PKU management practices in Japan and presented results for 176 active patients from 8 academic clinics, representing management practice before pegvaliase was available Most active patients had quarterly visits and Phe measurements, but these were more frequent in those
Slide 13: Acknowledgments
• The authors would like to thank Yusuke Hattori (Kumamoto University Hospital), Chika Takano (Nihon University Hospital), Erika Ogawa (Nihon University Hospital), Tetsuya Ito (Fujita Health University Hospital), Kana Kitayama (Osaka Metropolitan University Hospital), Haruo Shintaku (Osaka Metropoli
Slide 14: Back-up slide
Back-up slide
Slide 15: Blood Phe relative to target by age group
100 7.1 6.7 10.0 20.7 80 Patients With PKU (%) 47.8 60 70.0 73.3 Below target 80.0 71.4 Within target 90.0 Above target 40 72.4 Unknown 47.8 20 28.0 26.7 21.4 13.3 6.9 4.3 0 0–4 5–12 13–17 18–29 30–44 45+ Current/planned (n=14) (n=29) (n=23) (n=50) (n=45) (n=15) pregnancy (n=10) Age Group (years) 15