HUMANISTIC AND ECONOMIC BURDEN OF METACHROMATIC LEUKODYSTROPHY ON PATIENTS, CAREGIVERS, AND HEALTHCARE SYSTEMS: FINDINGS FROM A TARGETED LITERATURE REVIEW
Author(s)
Raju Gautam, PhD1, Khushbu Baranwal, MPharm2, Arpita Singh, MPharm2, Radha Sharma, PhD3, Shilpi Swami, MSc1.
1ConnectHEOR, London, United Kingdom, 2ConnectHEOR, Delhi, India, 3ConnectHEOR, Edmonton, AB, Canada.
1ConnectHEOR, London, United Kingdom, 2ConnectHEOR, Delhi, India, 3ConnectHEOR, Edmonton, AB, Canada.
OBJECTIVES: Metachromatic leukodystrophy (MLD) is a rare, progressive lysosomal storage disorder causing severe neurological decline, loss of motor and cognitive function, and premature mortality. This review evaluated its burden on patients, caregivers, and healthcare systems.
METHODS: A targeted literature review of PubMed, Embase, and Google Scholar (January 2012-April 2026) identified studies reporting the humanistic and economic burden of MLD on patients and caregivers, including HRQoL, healthcare resource utilisation (HCRU), costs, and productivity loss.
RESULTS: Of 230 unique records identified, 17 studies were included (humanistic, n=7; economic, n=4; both, n=6), predominantly from Europe (n=8), followed by multicountry settings (n=4), North America (n=2), and Asia (n=1); two studies did not report the study region. Patients experienced a high disease burden, including reduced educational participation (5 studies), and lower utility values in advanced disease stages (3 studies). Caregiver burden was considerable, with parents reporting diagnostic delays (~10-14 months) for their children with MLD (as reported in 2 studies), attributed to poor recognition of early symptoms and delayed acknowledgment of parental concerns by healthcare professionals. Across studies, 48-80% of caregivers reported anxiety, depression, or emotional burden. Disease progression substantially affected caregivers, reducing QoL (6 studies), employment (77-90% reduced or stopped working; 6 studies), and social participation (80% reported reduced social engagement; 5 studies). Healthcare costs increased with disease progression (5 studies), driven by hospitalisations, specialist care, home nursing, assistive devices, and long-term supportive care, with monthly medical costs rising from US$102 to US$9,559 across disease severity as reported in a multinational European study. Families also incurred substantial out-of-pocket expenses (3 studies) and productivity losses (5 studies).
CONCLUSIONS: MLD imposes a substantial burden on patients, caregivers, and healthcare systems, with reduced patient HRQoL, increased caregiver burden and productivity loss, and HCRU. Early diagnosis and timely intervention may help delay disease progression and mitigate long-term burden.
METHODS: A targeted literature review of PubMed, Embase, and Google Scholar (January 2012-April 2026) identified studies reporting the humanistic and economic burden of MLD on patients and caregivers, including HRQoL, healthcare resource utilisation (HCRU), costs, and productivity loss.
RESULTS: Of 230 unique records identified, 17 studies were included (humanistic, n=7; economic, n=4; both, n=6), predominantly from Europe (n=8), followed by multicountry settings (n=4), North America (n=2), and Asia (n=1); two studies did not report the study region. Patients experienced a high disease burden, including reduced educational participation (5 studies), and lower utility values in advanced disease stages (3 studies). Caregiver burden was considerable, with parents reporting diagnostic delays (~10-14 months) for their children with MLD (as reported in 2 studies), attributed to poor recognition of early symptoms and delayed acknowledgment of parental concerns by healthcare professionals. Across studies, 48-80% of caregivers reported anxiety, depression, or emotional burden. Disease progression substantially affected caregivers, reducing QoL (6 studies), employment (77-90% reduced or stopped working; 6 studies), and social participation (80% reported reduced social engagement; 5 studies). Healthcare costs increased with disease progression (5 studies), driven by hospitalisations, specialist care, home nursing, assistive devices, and long-term supportive care, with monthly medical costs rising from US$102 to US$9,559 across disease severity as reported in a multinational European study. Families also incurred substantial out-of-pocket expenses (3 studies) and productivity losses (5 studies).
CONCLUSIONS: MLD imposes a substantial burden on patients, caregivers, and healthcare systems, with reduced patient HRQoL, increased caregiver burden and productivity loss, and HCRU. Early diagnosis and timely intervention may help delay disease progression and mitigate long-term burden.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
SA33
Topic
Economic Evaluation, Study Approaches
Topic Subcategory
Literature Review & Synthesis
Disease
Rare & Orphan Diseases