Duchenne Muscular Dystrophy
Conditions
Brief summary
Duchenne muscular dystrophy (DMD) is a chronic neuromuscular disorder affecting approximately 150 to 200 newborns annually, predominantly males, and is characterized by progressive muscle atrophy and weakness due to a complete absence of dystrophin. DMD presents a severe phenotype, with life expectancy typically extending into the third decade. Data on healthcare utilization and associated costs for DMD patients, particularly within the French healthcare context, remain limited. The EPARDYS study aims to examine the care pathways of these patients using data from the Banque Nationale des Données Maladies Rares (BNDMR) and the Système National des Données de Santé (SNDS), enabling a detailed characterization of patient demographics, healthcare utilization patterns, and associated costs. However, only direct costs eligible for reimbursement under the Affection Longue Durée (ALD 100%) scheme can be evaluated. Additional resources are consumed by DMD patients, particularly for medical care that falls outside the scope of reimbursement. Furthermore, the high level of dependency in these patients may lead to the need for home adaptations or other expenditures outside the healthcare domain but linked to the disease. Informal caregiving also plays a significant role. These additional family-incurred costs must be considered. The CouDuMyo study will aim to estimate all relevant cost components from a societal perspective, considering both minors and adults, whether they attend school or work. The medico-social aspect of care, along with the collection of data on aids and benefits received, will offer insights into the nature of the support available to families in France. The knowledge gained regarding non-reimbursable, disease-related costs according to patient characteristics will provide a comprehensive view of the financial burden borne by patients and their caregivers. This assessment is particularly relevant in the context of emerging therapies, which may reduce these associated costs. The main objective will be to describe the resource utilization associated with DMD care that is not eligible for reimbursement, including direct medical costs not covered, medico-social expenses, direct non-medical costs, and indirect costs.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
The patients identified are those present in the BNDMR and with an up-to-date address for their follow-up centre. Inclusion criteria * Patients of any age with DMD diagnosed more than 6 months ago; * Patient included in the BNDMR, not objecting to the collection of his or her data (see BNDMR 'Agreement to be contacted for a protocol') and alive at the time of his or her request to participate in the study.
Exclusion criteria
* Patient taking part in an interventional clinical study with changes to usual management (see BNDMR 'Patient taking part in a protocol'); * Patient and/or main carer objecting to the use of their data; * Patient and/or main carer whose understanding of the French language does not allow them to complete the questionnaire.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Average annualised cost per patient/family. | 1 year | The consumption of resources related to the care of patients with Duchenne muscular dystrophy (DMD) that are not eligible for reimbursement. This includes direct medical costs not covered by insurance, such as certain treatments, therapies, or medical devices that patients may require. Additionally, medico-social costs will be assessed, including services that support daily living and social integration, such as specialized transportation, caregiving, and educational support. Direct non-medical costs will also be evaluated, particularly those related to home modifications or equipment necessary for adapting the living environment to the patient's needs. Finally, the study will analyze indirect costs, which encompass the loss of productivity both for the patient and their caregivers, as well as the value of informal care provided by family members or other non-professional caregivers. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Different types of costs identified for managing the disease | from disease identification to questionnaire's completion, up to 98 years | All relevant expenses associated with the care of Duchenne muscular dystrophy (DMD) patients. The analysis will cover various categories of costs, including direct medical costs (both reimbursable and non-reimbursable), medico-social costs (such as home care or special education), direct non-medical costs (such as home adaptations or specialized equipment), and indirect costs (such as loss of productivity and informal caregiving) |
| Costs based on the severity of the disease | from disease identification to questionnaire's completion, up to 98 years | How costs vary depending on the stage of disease progression. As DMD is a degenerative condition, the severity of the disease evolves over time, requiring different levels of care and resources at each stage. This analysis will examine how costs increase or change as the patient's functional abilities decline |
| Determinants of the identified costs | from disease identification to questionnaire's completion, up to 98 years | The key factors that drive the costs of managing DMD. These determinants may include patient characteristics (such as age, disease duration, and comorbidities), socioeconomic factors (such as income, access to care, and geographic location), and the type of support or assistance available (such as public benefits, informal caregiving, and specialized services). |
Countries
France
Contacts
STUDY_DIRECTORIsabelle Durand-Zaleski, Professor
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed