JMIR Publications

ABSTRACT

Significance for public health Duchenne muscular dystrophy is most common form of muscular dystrophy in children, still remains an orphan disease. Disease is progressive, and care is often compromised due to the lack of effective treatment and supportive care. The results of study might guide policymakers and health professionals, not only in India but also in other low- and middle-income countries (LMIC)to facilitate a comprehensive program for overall care of patients living with Duchenne muscular dystrophy. This “care” approach will generate awareness in society about and later, acceptance of the illness and the affected families. The economic impact of a rare disease is a very important consideration to formulate or evaluate any health policy or intervention programme related to new treatments and financial support schemes for families. Background Evolution in the knowledge about DMD has changed the natural history of the disease. Early diagnosis and interventions have prolonged survival. A lack of comprehensive care for patients living with disease is directly associated with a compromised quality of life for patients and their caregivers. The disease also has a huge economic impact on families as its treatment requires substantial direct, indirect and informal care costs. There is an urgent need to develop an effective patient-centered care model (PCC), in LMIC to improve the QoL of affected families. This study presents a protocol developed to evaluate the PCC model for children with DMD and to improve the quality of life of affected patients and their families.

Methods:

The present study is a Quasi-experimental study, in which 70 families with 5–15-year-old boys with DMD registered at the Pediatric Neurology Clinic, Dept of Pediatrics, in a tertiary care center and under regular follow-up would be enrolled consecutively as per footfall. Intervention would be based on PCC model individualized by the intervention team. The total duration of the study would be 18 months, comprising two phases of 6 months. Six months would be expected period for patient enrolment. In phase one patients will be observed for routine hospital care. In phase two intervention will be given. First primary outcome would be change in mean scores of QoL of both patients and caregivers in phase 1 and phase 2. The second, outcome would be to assess change in economic impact in terms of out-of-pocket (OOP) expenditure. Apart from the outcomes listed above a PCC model i.e. Comprehensive DMD -Telecare Model would also be developed. This would include teleconsultation as one of its key components to reduce patient physical visits Teleconsultation would be especially beneficial for non-ambulatory patients. Expected public health impact: DMD causes severe functional-disability and reduces life-expectancy. Besides physical impairment, the disease also has a socio-economic and psychological impact. The disability is not merely an individual impairment but more so a social phenomenon. This study is expected to provide evidence whether a multi-component patient-centric intervention could reduce the economic burden on families and improve their QoL.It will also add to existing literature on improving QoL of patients and caregivers living with DMD especially from LMIC. Trial Registration number: CTRI/2021/06/034274.