HUMANISTIC BURDEN AND HEALTH RELATED QUALITY OF LIFE IN RARE DISEASES IN THE MIDDLE EAST AND NORTH AFRICA: A SCOPING REVIEW
Author(s)
Caline Saade, PharmD1, Fatima Dayeh, BA2, Andre Slim, PharmD, MPH1, Fatima Al Sayah, PhD1.
1Center of Clinical, Health Economics and Outcomes Research, Dubai, United Arab Emirates, 2American University of Beirut, Beirut, Lebanon.
1Center of Clinical, Health Economics and Outcomes Research, Dubai, United Arab Emirates, 2American University of Beirut, Beirut, Lebanon.
OBJECTIVES: To map and synthesize the evidence on health-related quality of life (HRQoL) and broader humanistic burden in rare diseases across the Middle East and North Africa (MENA), with a focus on outcome measures used and key evidence gaps across diseases, populations, and domains.
METHODS: A scoping review was conducted in accordance with PRISMA-ScR-guidelines. PubMed/MEDLINE, Embase, Scopus, and the Cochrane Library were searched for studies published between January 2000 and May 2026. Studies reporting HRQoL, patient-reported outcomes, utility values, caregiver burden, psychosocial outcomes, or other humanistic outcomes in rare disease populations across MENA were included. Data were extracted and synthesized descriptively.
RESULTS: Eighty-nine studies involving 12,304 participants met inclusion criteria, spanning 13 of 18 MENA countries. Evidence was concentrated in Iran (37.1%) and Saudi Arabia (24.7%). Hemoglobinopathies represented nearly half of all studies (48.3%), while no eligible studies were identified for lysosomal storage disorders. Most studies were cross-sectional (80.9%), and single center (83%). Adults were represented in 40 studies, pediatric populations in 26 studies, and mixed-age populations in 23 studies. Thirty-seven HRQoL instruments were identified; 36-Item Short Form Health Survey (SF-36) predominated in adult studies, whereas Pediatric Quality of Life Inventory (PedsQL) predominated in pediatric studies. Disease-specific instruments were used in 37% of studies. Only six studies reported utility measurement and three generated interpretable preference-based utility values; no pediatric utility data were identified. Caregiver or family burden was assessed in 21.3% of studies, yet no study used a validated caregiver-specific burden instrument. Notably, 41.6% of studies lacked healthy control groups or regional normative comparators.
CONCLUSIONS: The evidence on HRQoL and humanistic burden in rare diseases across MENA is limited and concentrated in a small number of countries and disease areas. Important gaps remain in utility measurement, caregiver burden assessment and coverage of several rare disease groups, highlighting priorities for future research and evidence generation.
METHODS: A scoping review was conducted in accordance with PRISMA-ScR-guidelines. PubMed/MEDLINE, Embase, Scopus, and the Cochrane Library were searched for studies published between January 2000 and May 2026. Studies reporting HRQoL, patient-reported outcomes, utility values, caregiver burden, psychosocial outcomes, or other humanistic outcomes in rare disease populations across MENA were included. Data were extracted and synthesized descriptively.
RESULTS: Eighty-nine studies involving 12,304 participants met inclusion criteria, spanning 13 of 18 MENA countries. Evidence was concentrated in Iran (37.1%) and Saudi Arabia (24.7%). Hemoglobinopathies represented nearly half of all studies (48.3%), while no eligible studies were identified for lysosomal storage disorders. Most studies were cross-sectional (80.9%), and single center (83%). Adults were represented in 40 studies, pediatric populations in 26 studies, and mixed-age populations in 23 studies. Thirty-seven HRQoL instruments were identified; 36-Item Short Form Health Survey (SF-36) predominated in adult studies, whereas Pediatric Quality of Life Inventory (PedsQL) predominated in pediatric studies. Disease-specific instruments were used in 37% of studies. Only six studies reported utility measurement and three generated interpretable preference-based utility values; no pediatric utility data were identified. Caregiver or family burden was assessed in 21.3% of studies, yet no study used a validated caregiver-specific burden instrument. Notably, 41.6% of studies lacked healthy control groups or regional normative comparators.
CONCLUSIONS: The evidence on HRQoL and humanistic burden in rare diseases across MENA is limited and concentrated in a small number of countries and disease areas. Important gaps remain in utility measurement, caregiver burden assessment and coverage of several rare disease groups, highlighting priorities for future research and evidence generation.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR134
Topic
Epidemiology & Public Health, Methodological & Statistical Research, Patient-Centered Research
Topic Subcategory
Health State Utilities, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Rare & Orphan Diseases