Physical and Psychological Burden on People with Hemophilia: Global Real-World Data
Bibliographic record
Abstract
Background: Although current and emerging prophylactic treatments can reduce bleeding risk for people with hemophilia (PWH), a residual physical and psychological burden associated with treatment may persist (Barry V et al. Haemophilia. 2021;27(3):375-382). Aims: This study investigated the remaining clinical needs of people with hemophilia A (HA) and B (HB) receiving prophylaxis, from a global perspective. The current analysis assessed the physical and psychological burden reported by PWH. Methods: This cross-sectional real-world survey captured patient-reported outcomes, experiences, and clinical data from PWH and parents/guardians of PWH (PPWH) in eight countries (Canada, France, Germany, India, Italy, Saudi Arabia, Spain and the US). Participants were recruited via interaction with treating healthcare professionals, social media, online panels and patient groups. Eligible participants were ≥1 year of age with HA and ≥6 months of prophylaxis or HB who were on prophylactic and/or on-demand treatment. Exclusions included mental incapacity, language barriers, clinical trial participation, or receipt of investigative/compassionate treatments. Between December 2023 and March 2024, participants completed a 30-minute online survey. Disease impact on physical and psychological health was measured using the Patient-Reported Outcomes Measurement Information System 29+2 version 2.1 (PROMIS®-29+2 Profile v2.1 [PROMIS-29]), a validated questionnaire covering eight domains (physical functioning, ability to participate in social roles and activities, cognitive function, fatigue, sleep disturbance, pain interference, anxiety, and depressive symptoms). PROMIS-29 scores were transformed into T-scores using a reference sample from the general population with a mean of 50. Lower scores for physical, social, and cognitive domains reflect higher burden, while higher scores for the other domains indicate greater burden. This analysis focuses on results for people with severe hemophilia without inhibitors (woI) by treatment class: standard half-life (SHL) and extended half-life (EHL) for factor VIII in HA or factor IX in HB, and non-factor therapy (NFT) in HA. Results: Of 495 PWH/PPWH who completed the survey, most were self-completing PWH (n=323, 65%). Mean age (standard deviation, SD) of PWH was 27.1 (17.1) years. Of the 229 people with severe HAwoI 26% (n=59) received SHL, 28% (n=64) EHL, 40% (n=91) NFT and 6% (n=15) unknown. Of the 46 people with severe HBwoI 20% (n=9) received SHL, 78% EHL (n=36), and 2% (n=1) unknown. Adult PROMIS-29 scores indicated that burden of disease for people with severe HAwoI in all domains was similar regardless of treatment class. Median scores (interquartile range) by treatment class, SHL (n=46)/EHL (n=36)/NFT (n=62), were 44 (38-57)/46 (41-57)/44 (39-57) for physical functioning, 48 (44-56)/52 (49-64)/52 (46-58) for social roles and activities, 56 (54-58)/56 (54-58)/58 (54-60) for sleep disturbance, and 59 (52-64)/56 (50-60)/56 (42-61) for pain interference. Similar results were observed for people with severe HBwoI, SHL (n=5)/EHL (n=21), at 46 (42-51)/48 (39-57) for physical functioning, 54 (50-60)/56 (46-64) for social roles and activities, 58 (57-60)/56 (54-58) for sleep disturbance, and 56 (53-57)/52 (42-61) for pain interference. In response to two independent survey questions, people with severe HAwol (SHL [n=59]/EHL [n=64]/NFT [n=91]) reported feeling anxious (39%/38%/30%) or worried (34%/34%/26%), at least sometimes, that their treatment might not adequately protect them from bleeds. Corresponding responses for 45 people with severe HBwoI (SHL [n= 9]/EHL [n=36]) were 22%/22% (anxious) and 33%/31% (worried). The mean [SD] number of self-reported bleeds from people with severe HAwoI in the 12 months before the survey or since therapy switch was 6.8 [6.1] (SHL, n=59), 6.6 [9.7] (EHL, n=64), and 2.3 [4.2] (NFT, n=91). Corresponding mean [SD] self-reported bleeds from people with severe HBwoI were 3.2 [2.8] (SHL, n=9) and 4.8 [5.8] (EHL, n=36). Conclusion: Assessing treatment burden using standard tools is an important part of comprehensive care to individually optimize care and outcomes. Irrespective of treatment class, individuals with severe hemophilia woI continue to experience physical burden from the disease, manifested as pain, sleep disturbances and psychological burden of anxiety, and worry about breakthrough bleeds.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".