Long-term retention plan through myGTR – a patient engagement tool from World Federation of Hemophilia Gene Therapy Registry

Youttananukorn T, Konkle B, Peyvandi F, Naccache M, Miesbach W, O’Mahony B, Makris M, Pipe S, Skinner M, Coffin D, Pierce G.Long-term retention plan through myGTR – a patient engagement tool from World Federation of Hemophilia Gene Therapy Registry. (2024), POSTER ABSTRACT (PP-054). (2024), Issue Information. Haemophilia, 30: 1-2. https://doi.org/10.1111/hae.15016

Introduction

The World Federation of Haemophilia (WFH) Gene Therapy Registry (GTR) is designed to collect comprehensive clinical data on all people with haemophilia (PWH) who receive gene therapy (GT) globally. To complement data from the GTR, the WFH developed myGTR – a patient engagement tool aimed at collecting patient-reported outcome (PRO) data. PRO data are important and are part of shared decision-making process that could lead to meaningful care and treatment.

Methods

To reduce potential data gap after GT and to ensure long-term engagement between haemophilia treatment centre (HTC) and PWH, the GTR is developing a retention plan. The patient engagement plan of the GTR includes myGTR – the foundational element, data visualisation through dashboards, video/podcasts with experts, and a dedicated website with latest news about GT.

Results

Whilst developing myGTR, the WFH held focus groups to discuss which PRO data are important to collect, at which frequency, and how to capture PWH’s experience on GT. The groups indicated mobile app fatigue and requested a simple tool. myGTR is not available at any app store. It was developed as a web-based application. Patients can choose their preferred contact method – email or text message – to access myGTR and provide PRO data via an interactive digital assis-tant. The PRO data are bleeds, treatments and health related quality of life (HR-QOL) including the Patient Reported Outcomes Burdens and Experiences (PROBE), coreHEM Mental Health Outlook (core-HEM MHO) and EQ-5D-5L. At regular interval (4 times during the first year, 2 times per year thereafter), the patients will be prompted to answer two simple questions about their health status since GT infusion, and complete two out of three HR-QOL questionnaires on a rotational basis.

Conclusions

To monitor GT’s safety, efficacy and long-term effects, engagement from both HTCs and patients is critical. The GTR is a platform for HTCs whereas myGTR allows the patients to continue providing data on their health status and HR-QOL in a simple manner. When working hand-in-hand, both tools can improve patient care and treatment outcomes as well as our understanding of benefits and risks of GT.

Disclosures

Barbara Konkle: Be Biotherapy, Biomarin, Novo Nordisk, Pfizer, Sanofi; Flora Peyvandi: BioMarin Pharmaceutical Inc., CSL Behring, F. Hoffmann-La Roche Ltd., Grifols, Sanofi, Sobi, Takeda; Wolfgang Miesbach: Bayer, BioMarin, Biotest, Chugai, CSL Behring, Free-line, LFB, Novo Nordisk, Octapharma, Pfizer, Regeneron, Roche, Sanofi, Sigilon, Sobi, Takeda/shire; Brian O’Mahony: Biomarin, CSL Behring, Freeline, Irish Haemophilia Society, Pfizer, Roche; Mike Makris: Grifols, Novo Nordisk, Sanofi, Takeda; Steven Pipe: Apcintex, ASC Therapeutics, Bayer, BioMarin, CSL Behring, HEMA Biologics, Freeline, LFB, Novo Nordisk, Pfizer, Regeneron/Intellia, Genentech/Roche, GeneVentiv and Equilibra Bioscience, Sanofi, Takeda, Spark Therapeutics, uniQure, Siemens; Mark Skinner: Band Therapeutics, Bayer, BioMarin, CSL Behring, Novo Nordisk, Pfizer, Roche/Genentech, Sanofi, Takeda, Vega Therapeutics; Glenn F. Pierce: ASC Therapeutics, Be Bio, BioMarin, Decibel Therapeutics, Frontera, Intellia, Metagenomi, Novo Nordisk, Pfizer, Regeneron, Spark Therapeutics, Third Rock Ventures.

View Poster: PP_54_WFH2024

Physical functioning and pain in older men with haemophilia

O’Callaghan S, Parikh S, Bishop L, Caris S. Physical functioning and pain in older men with haemophilia. (2024), POSTER ABSTRACT (PP-161). (2024), Issue Information. Haemophilia, 30: 1-2. https://doi.org/10.1111/hae.15016

Introduction

It is well recognised that physical functioning can be impaired and pain common as men with haemophilia (MWH) age, due to complications from their bleeding disorder. However, it can be difficult to quantify the difference between their experience and that of men without a bleeding disorder (MNBD)of equivalent age in the general population. The PROBE (Patient Reported Outcomes Burdens Experiences) questionnaire is an internationally validated tool defining the impact of haemophilia on quality of life from the patient perspective. In 2020 the PROBE Australia Study compared the experience of MWH and MNBD, all of whom were aged 45 years and over.

Methods

A total of 106 questionnaire respondents aged 45 years and over (MWH: n = 57; MNBD: n = 49) were recruited via Australian community networks. PROBE questions included use of a mobility aid or assistive device, difficulties with activities of daily liv-ing, acute and chronic pain and use of medications for pain in the last 12 months.

Results

Differences between MWH and MNBD were pronounced. Overall MWH reported that 44% (25/57) used a mobility aid, 54% (31/57) had difficulties with activities of daily living, 58% (33/57) experienced acute pain, 74% (42/57) chronic pain and 79% (45/57) used medication for pain in the last 12 months. This was markedly higher than MNBD: none reported problems with mobility, 6% (3/49) reported problems with activities of daily living, 27% (13/49) had acute pain, 41% (20/49) chronic pain, and 61% (30/49) used medication for pain. A higher proportion of men with moderate or severe haemophilia (n = 28) reported physical function problems or pain: 61% (17/28) needed mobility aids, 79% (22/28) had difficulties with activities of daily living, 79% (22/28) had acute pain, 86% (24/28) chronic pain, and 89% (25/28) had used medi-cation for pain. Men with mild haemophilia (n = 29) also reported problems and pain more often than MNBD, including 28% (8/29) reporting mobility problems and 31% (9/29) with activities of daily living.

Conclusions

Validated haemophilia-specific tools such as PROBE are an important way to quantify the substantial differences in quality of life between older men with haemophilia and men without a bleeding disorder of equivalent age.

View Poster: PP_161_WFH2024

Gene therapy with the Padua variant of a codon-optimized human factor IX gene etranacogene dezaparvovec in people with hemophilia B: effects on patient-oriented outcomes measured using thePatient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire in the HOPE-B study

Pipe S, Abdelkader W, Clearfield E, Kucher A, Joseph B, Braverman J, Galante N, Monahan P, Ibrahim Q, Iorio A, Germini F, Skinner M. Gene therapy with the Padua variant of a codon-optimized human factor IX gene etranacogene dezaparvovec in people with hemophilia B: effects on patient-oriented outcomes measured using thePatient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire in the HOPE-B study. (2024), POSTER ABSTRACT (PP-164). (2024), Issue Information. Haemophilia, 30: 1-2. https://doi.org/10.1111/hae.15016

Introduction

The Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire was used to measure patient-oriented outcomes in the HOPE-B trial. Determine the effect of a single dose of adeno-associated virus 5 (AAV5) vector expressing the Padua factor IX variant (etranacogene dezaparvovec) on the quality of life and the burden of the disease as measured by the PROBE questionnaire.

Methods

In this phase 3, open-label, single-arm trial, people with severe to moderately severe haemophilia B, after factor IX prophylaxis for ≥6 months (lead-in period), received one infusion of etranacogene dezaparvovec. The PROBE questionnaire was admin-istered at enrolment, during the lead-in period, and at 6 months, 1, 2and 3 years after the treatment. The PROBE score was calculated and ranged from 0 to 1 (worst to best health status possible). Intra-patientchanges in PROBE scores were analysed using a two-level linear mixed model (within patient repeated observations and random intercepts).

Results

Fifty-four adult males received the treatment, and PROBE data were available for 48 participants. The characteristics of the population and the mean PROBE score at the various time points are reported in Table 1. Using the baseline as a reference, there was an average change (95% confidence interval) in the PROBE score of 0.04 (0.02, 0.07) at 6 month/1 year, which persisted at 2–3 years, 0.04(0.02, 0.06). Nine (22.5%) participants had an improvement of at least0.1 in the PROBE score, five (12.5%) had a worsening of at least 0.1. Changes in the responses to the core PROBE questions are reported in Table 2. At three years, there was a 23.8% (95% CI -41.7, −5.8) reduction in the prevalence of participants having experienced acute pain in the previous 12 months. Participants with at least one target joint at baseline demonstrated a trend towards reduction in the proportion of participants experiencing difficulties with activity of daily life, without reaching the cut off for statistical significance.

Conclusions

Administering a single dose of etranacogene dezaparvovec to patients with hemophilia B led to improvement of mean Probe score maintained through at three years.

Disclosures

Steven Pipe: Apcintex, ASC Therapeutics, Bayer, BioMarin, CSL Behring, HEMA Biologics, Freeline, LFB, Novo Nordisk, Pfizer, Regeneron/Intellia, Genentech/Roche, GeneVentiv and Equilibra Bioscience, Sanofi, Takeda, Spark Therapeutics, uniQure, Siemens; Bernard Joseph: CSL Behring; Julia Braverman: CSL Behring; Nicholas Galante: CSL Behring; Paul Monahan: CSL Behring; Alfonso Iorio: Bayer, CSL, Pfizer, Roche, Sanofi/Sobi, Takeda; Federico Germini: Bayer, Biomarin, CSL Behring, Novo Nordisk, Pfizer, Roche, Takeda; Mark Skinner: Band Therapeutics, Bayer, BioMarin, CSL Behring, Novo Nordisk, Pfizer, Roche/Genentech, Sanofi, Takeda, Vega Therapeutics

View Poster: PP_164_WFH2024

Incorporating Patient Reported Outcomes into Clinical Practice: a 360-degree Clinical Evaluation for Better Care and Treatment of People with Hemophilia through myWBDR and myPROBE

Youttananukorn T, Coffin D, Diop S, Hermans C, Konkle B, Lambert C, Noone D, O’Hara J, Pierce G, W Skinner M, Iorio A. Incorporating Patient Reported Outcomes into Clinical Practice: A 360-degree Clinical Evaluation for Better Care and Treatment of People with Hemophilia through myWBDR and myPROBE [abstract]. Res Pract Thromb Haemost. 2021;5(Suppl 2). https://abstracts.isth.org/abstract/incorporating-patient-reported-outcomes-into-clinical-practice-a-360-degree-clinical-evaluation-for-better-care-and-treatment-of-people-with-hemophilia-through-mywbdr-and-myprobe/. Accessed March 12, 2022

Background

The World Federation of Hemophilia (WFH) World Bleeding Disorders Registry (WBDR) is designed to fill gaps in hemophilia care and knowledge that exist globally. The WBDR is a tool for clinicians to collect real world data on patient clinical care and quality of life, and a tool to empower people with hemophilia (PWH) to manage their own care and treatment.  The WFH will be introducing myWBDR – a mobile application for PWH participating in the WBDR through the participating hemophilia treatment centers.

Aims

To collect bleed and other patient-reported outcome (PRO) data in the WBDR.

Methods

myWBDR is designed to track bleeds, associated pain, treatments, and health status using EQ-5D-5L and the Patient Reported Outcomes, Burdens, and Experiences (PROBE) questionnaires (Table).  Initially, myWBDR will be available in English, French, Hindi, Spanish, and Vietnamese.

Results

myWBDR is undergoing field testing in non-WBDR PWH and will follow with a testing cohort of PWH within the WBDR.  Implementation will be regional, starting with 5 countries (2 regions) in Q2 2021. myWBDR is a simple tool, allowing users to record accurate bleeds and treatment in under 1 minute. The inclusion of the EQ-5D-5L and PROBE questionnaires, both available in a large number of languages, will allow users to track changes in their health status over time. Both myWBDR and myPROBE include an off-line feature so data can be entered at anytime and offer simple data visualization on bleeds (number, location), level of pain and health-status.

Conclusions

Integration of PRO via the myWBDR will allow PWH to play an active role in their care and treatment. With the 360-degree data, researchers can better understand hemophilia and work to improve quality of care and treatment for PWH around the world. A data dashboard for PWH to visualize and compare their personal data is in development.

View Poster: myWBDR and myPROBE