Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the...

People with rare diseases (RDs) often require intensive multidisciplinary care in disease-specific centers of excellence (CoE). However, access is limited for most patients living remotely. X-linked adrenoleukodystrophy (X-ALD) is a genetic RD leading to demyelination of the central and peripheral nervous system.

This randomized-controlled trial tested the feasibility, acceptance, and effectiveness of a multidisciplinary online intervention provided by a CoE on the quality of life (QoL) and well-being of symptomatic women with X-ALD.

Single-center, randomized-controlled clinical trial involving 68 German-speaking women with symptomatic X-ALD.

Participants were randomized into an experimental group (EG, n = 34) receiving 12-month online intervention SMART-ALD and a waiting-list control group (WL-CG, n = 34) receiving 6-month SMART-ALD after a 6-month waiting period. Within SMART-ALD, participants were offered regular web-based neurological, social, psychological, and nutritional counseling and fitness training provided by the Leukodystrophy Outpatient Clinic at Leipzig, Germany. Group, time, and interaction effects on primary (self-reported QoL) and secondary (physical and mental health) outcomes after 6-month SMART-ALD were tested by repeated measures ANOVAs.

One WL-CG participant dropped out after the waiting period and was excluded from the final analysis. Significant QoL improvements in the EG versus WL-CG were found on self-reported mental health (mean difference (MD): 5.4, 95% confidence interval (CI) (2.8, 13.6), p = 0.020, η² = 0.08) and vitality (MD: 8.8, 95% CI (0.1, 17.4), p = 0.002, η² = 0.14). Further significant interaction effects emerged for improved knowledge about nutrition (MD: 0.4, 95% CI (-0.7, 1.4), p = 0.002, η² = 0.15), socio-medical benefits (MD: 1.8, 95% CI (0.5, 3.0), p = 0.033, η² = 0.07), and intense physical activity (MD: 2.2, 95% CI (-3.9, 8.4), p = 0.024, η² = 0.10).

The study shows that easily accessible, multidisciplinary online interventions provided by the CoE have the potential to improve the QoL in people with RDs by providing regular access to specialized care.

This study was registered on ClinicalTrials.gov (https://clinicaltrials.gov/study/NCT04687007).