PMID- 38294575 OWN - NLM STAT- MEDLINE DCOM- 20240201 LR - 20240203 IS - 2509-8020 (Electronic) IS - 2509-8020 (Linking) VI - 8 IP - 1 DP - 2024 Jan 31 TI - Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS((R))) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data. PG - 13 LID - 10.1186/s41687-024-00686-z [doi] LID - 13 AB - BACKGROUND: The construct validity and interpretation of the Patient-Reported Outcome Measurement Information System (PROMIS((R))) Physical Function short form 20a (PF20a) questionnaire were evaluated for patients with late-onset Pompe disease (LOPD), a rare, autosomal recessive, progressive neuromuscular disorder treatable by enzyme replacement therapy (ERT). METHODS: In the phase 3 PROPEL study, adults with LOPD underwent testing of physical functioning and had PRO measurements at baseline and at weeks 12, 26, 38, and 52 while receiving experimental or standard-of-care ERT. All patients were pooled for analyses, without comparisons between treatment groups. Associations and correlations between PROMIS PF20a scores and the 6-minute walk distance (6MWD), % predicted forced vital capacity (FVC), manual muscle test (MMT) of the lower extremities, Gait, Stairs, Gowers' maneuver, Chair (GSGC) score, and Rasch-built Pompe-specific Activity (R-PAct) scale were evaluated by calculating regression coefficients in linear regression models and Pearson correlation coefficients (R); patients' age, sex, race, ERT prior to study, body mass index, and study treatment were included as covariables. The minimal clinically important difference (MCID) of PROMIS PF20a was determined using distribution- and anchor-based methods. RESULTS: 123 patients received at least 1 dose of ERT. In multivariable analyses, PROMIS PF20a scores had strong correlations with R-PAct scores (R = 0.83 at baseline and R = 0.67 when evaluating changes between baseline and 52 weeks) and moderate correlations with the 6MWD (R = 0.57 at baseline and R = 0.48 when evaluating changes between baseline and 52 weeks). Moderate correlations were also observed between PROMIS PF20a and MMT (R = 0.54), GSGC (R=-0.51), and FVC (R = 0.48) at baseline. In multivariable linear regression models, associations were significant between PROMIS PF20a and 6MWD (P = 0.0006), MMT (P = 0.0034), GSGC (P = 0.0278), and R-PAct (P < 0.0001) at baseline, between PROMIS PF20a and 6MWD (P < 0.0001), FVC (P = 0.0490), and R-PAct (P < 0.0001) when combining all measurements, and between PF20a and 6MWD (P = 0.0016) and R-PAct (P = 0.0001) when evaluating changes in scores between baseline and 52 weeks. The anchor-based and distribution-based MCID for a clinically important improvement for PROMIS PF20a were 2.4 and 4.2, respectively. CONCLUSIONS: PROMIS PF20a has validity as an instrument both to measure and to longitudinally follow physical function in patients with LOPD. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03729362. Registered 2 November 2018, https://www. CLINICALTRIALS: gov/search?term=NCT03729362 . CI - (c) 2024. The Author(s). FAU - Kishnani, Priya S AU - Kishnani PS AD - Duke University, 905 Lasalle Street, GSRB1, Room 4010, Durham, NC, 27710, USA. FAU - Shohet, Simon AU - Shohet S AUID- ORCID: 0009-0003-0901-5233 AD - Amicus Therapeutics UK LTD, One Globeside, Fieldhouse Ln, Marlow, SL7 1HZ, UK. sshohet@amicusrx.com. FAU - Raza, Syed AU - Raza S AD - Argenx BV Belgium, Industriepark Zwijnaarde 7, Gent, 9052, Belgium. FAU - Hummel, Noemi AU - Hummel N AD - Certara GmbH Germany, Chesterplatz 1, 79539, Lorrach, Germany. FAU - Castelli, Jeffrey P AU - Castelli JP AD - Amicus Therapeutics, 47 Hulfish St, Princeton, NJ, 08542, USA. FAU - Sitaraman Das, Sheela AU - Sitaraman Das S AD - Amicus Therapeutics, 47 Hulfish St, Princeton, NJ, 08542, USA. FAU - Jiang, Heng AU - Jiang H AD - Certara France, 69-71 rue de Miromesnil, Paris, 75008, France. FAU - Kopiec, Agnieszka AU - Kopiec A AD - Certara Poland, Kuklinskiego 17, 30-720, Krakow, Poland. FAU - Keyzor, Ian AU - Keyzor I AD - Amicus Therapeutics UK LTD, One Globeside, Fieldhouse Ln, Marlow, SL7 1HZ, UK. FAU - Hahn, Andreas AU - Hahn A AD - Justus-Liebig-University, Feulgenstr. 10-12, 35392, Giessen, Giessen, Germany. LA - eng SI - ClinicalTrials.gov/NCT03729362 GR - Amicus Therapeutics/Amicus Therapeutics/ PT - Journal Article DEP - 20240131 PL - Germany TA - J Patient Rep Outcomes JT - Journal of patient-reported outcomes JID - 101722688 SB - IM MH - Adult MH - Humans MH - *Glycogen Storage Disease Type II/diagnosis MH - Body Mass Index MH - Correlation of Data MH - Enzyme Replacement Therapy MH - Patient Reported Outcome Measures PMC - PMC10830974 OTO - NOTNLM OT - Late-onset Pompe disease OT - PROPEL OT - Patient-Reported Outcome Measurement Information System (PROMIS) OT - Patient-reported outcomes OT - Physical function OT - Quality of life OT - Validation COIS- SiS, IK, JC, and ShSD are employees of and hold stock in Amicus Therapeutics. SR is a former employee of Amicus Therapeutics. NH, AK, and HJ are employees of Certara; Certara is a paid consultant to Amicus Therapeutics. PK has received research/grant support from Amicus Therapeutics and Sanofi Genzyme; has received consulting fees and honoraria from Amicus Therapeutics, Sanofi Genzyme, Maze Therapeutics, Bayer and Asklepios Biopharmaceutical, Inc. (AskBio); is a member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme, Pompe Disease Advisory Board for Amicus Therapeutics, and Advisory Board for Baebies; has equity with Maze Therapeutics and has held equity in Asklepios Biopharmaceuticals, and may receive milestone payments related to that equity in the future. AH received honorariums for consulting activities from Sanofi-Aventis, Amicus, and Avrobio, and grants for research projects from Sanofi-Aventis. EDAT- 2024/01/31 12:43 MHDA- 2024/02/01 06:42 PMCR- 2024/01/31 CRDT- 2024/01/31 11:11 PHST- 2023/08/21 00:00 [received] PHST- 2024/01/10 00:00 [accepted] PHST- 2024/02/01 06:42 [medline] PHST- 2024/01/31 12:43 [pubmed] PHST- 2024/01/31 11:11 [entrez] PHST- 2024/01/31 00:00 [pmc-release] AID - 10.1186/s41687-024-00686-z [pii] AID - 686 [pii] AID - 10.1186/s41687-024-00686-z [doi] PST - epublish SO - J Patient Rep Outcomes. 2024 Jan 31;8(1):13. doi: 10.1186/s41687-024-00686-z.