Compliance to DMD Care Considerations in the Netherlands

Heutinck, Lotte; Opstal, Saskia L S Houwen-van; Krom, Yvonne D.; Niks, Erik H.; Verschuuren, Jan; Jansen, M.; Groot, I. de

doi:10.3233/jnd-210670

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…Other treatment strategies include surgery for the correction of scoliosis, assisted cough and ventilation support, use of ankle-foot orthoses, cardiac management, and psychosocial care [7,8]. To optimize the treatment results, it is important that patients adhere to care recommendations; however, some studies showed a suboptimal compliance [9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Orso¹,

Migliore²,

Polistena

et al. 2023

PLoS ONE

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Objective This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, and economic impact of DMD. Methods Systematic searches were conducted in PubMed, Embase and Web of Science up to January 2023. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol was registered in PROSPERO (CRD42021245196). Results Thirteen studies were included. The prevalence of DMD in the general population is 1.7–3.4 cases per 100,000, while the birth prevalence is 21.7–28.2 per 100,000 live male births. The QoL of DMD patients and caregivers is lower than that of healthy subjects, and the burden for caregivers of DMD children is higher than that of caregivers of children with other neuromuscular disorders. The compliance of real-world DMD care to clinical guidelines recommendations in Italy is lower than in other European countries. The annual cost of illness for DMD in Italy is € 35,000–46,000 per capita while, adding intangible costs, the total cost amounts to € 70,000. Conclusion Although it is a rare disease, DMD represents a significant burden in terms of quality of life of patients and their caregivers, and economic impact.

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Section: Introductionmentioning

confidence: 99%

Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Orso¹,

Migliore²,

Polistena

et al. 2023

PLoS ONE

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“…Multidisciplinary care has been associated with better adherence to clinical follow-up, resource utilization, and quality of life [4]. However, there is limited knowledge regarding the compliance with these recommendations, and when studied, such as in DMD, there are many barriers to successful practice [5]. To our knowledge, there is inadequate use of multidisciplinary teams and sparse research on the topic.…”

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confidence: 99%

Multidisciplinary management and care in rare neuromuscular disorders: A call for action

Ørstavik,

Rosenberger,

Fossmo

et al. 2024

Euro J of Neurology

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Rare neuromuscular disorders (NMDs) comprise a large spectrum of diseases that may be present at all ages, at birth or they may develop during early infancy or childhood, in adulthood, or late in life. The European definition of a rare disease is one that affects <1 in 2000 people. Many are hereditary, such as spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), myotonic dystrophy, and Charcot-Marie-Tooth disease. Others are acquired, such as amyotrophic lateral sclerosis (ALS) and inflammatory myopathies, are important differential diagnoses in neurological practice.Common for the rare hereditary NMDs is that they often affect several family members, most progress throughout life, and they are usually associated with a severe disease burden. In a fair proportion, the heart and respiratory function are also involved, as well as the ability to chew and swallow. For the majority of these

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The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data1

van de Velde,

Krom,

Bongers

et al. 2024

JND

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Background: Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives. Objective: In addressing these facets, it’s crucial to gather high-quality, interchangeable, and reusable data from a representative population. We introduce the Dutch Dystrophinopathy Database (DDD), a national registry for patients with DMD or BMD, and females with pathogenic DMD variants, outlining its design, governance, and use. Methods: The design of DDD is based on a system-independent information model that ensures interoperable and reusable data adhering to international standards. To maximize enrollment, patients can provide consent online and participation is allowed on different levels with contact details and clinical diagnosis as minimal requirement. Participants can opt-in for yearly online questionnaires on disease milestones and medication and to have clinical data stored from visits to one of the national reference centers. Governance involves a general board, advisory board and database management. Results: On November 1, 2023, 742 participants were enrolled. Self-reported data were provided by 291 Duchenne, 122 Becker and 38 female participants. 96% of the participants visiting reference centers consented to store clinical data. Eligible patients were informed about clinical studies through DDD, and multiple data requests have been approved to use coded clinical data for quality control, epidemiology and natural history studies. Conclusion: The Dutch Dystrophinopathy Database captures long-term patient and high-quality standardized clinician reported healthcare data, supporting trial readiness, post-marketing surveillance, and effective data use using a multicenter design that is scalable to other neuromuscular disorders.

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Compliance to DMD Care Considerations in the Netherlands

Cited by 3 publications

References 24 publications

Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Multidisciplinary management and care in rare neuromuscular disorders: A call for action

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data1

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