Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy

Bosco, Giovanna; Diamanti, Susanna; Meola, G.

doi:10.1016/j.nmd.2015.07.016

Cited by 23 publications

(23 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Even though longitudinal studies and attempts to correlate imaging changes with neurological symptoms have emerged significantly, further research on homogeneous cohort of DM1 (congenital, childhood, juvenile, adult, late-onset) and DM2 patients is needed to establish protocols for future trials. All these different issues were discussed during workshops of the international DM-CNS group, reflecting an international effort to combat DM neurological deficits (Axford and Pearson, 2013; Bugiardini et al, 2014; Bosco et al, 2015). …”

Section: Resultsmentioning

confidence: 99%

“…No correlation between the levels of these CSF biomarkers and neuropsychological impairment were evident. However, they could reflect an alteration of the permeability of the brain blood barrier (BBB) and then represent suitable markers for DM1 patients (Bosco et al, 2015). In addition, increase in CSF IgG, γ-globulin, and possibly in myelin basic protein (MBP) similar to that observed in demyelinating diseases have been reported in DM1 patients (Hirase and Araki, 1984).…”

Section: Dm Biomarkers For Cns Abnormalitiesmentioning

confidence: 99%

See 1 more Smart Citation

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Gourdon

Meola

2017

Front. Cell. Neurosci.

View full text Add to dashboard Cite

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Dm Biomarkers For Cns Abnormalitiesmentioning

confidence: 99%

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Gourdon

Meola

2017

Front. Cell. Neurosci.

View full text Add to dashboard Cite

show abstract

“…While encompassing all disease organ and system involvement, the registry currently lacks items describing the cognitive impairment. Over the past few years, international workshops [67,68] have focused on how to assess central nervous system involvement. Some time-consuming neuropsychological tests are currently discussed and require validation for future integration into registry dataset.…”

Section: Discussionmentioning

confidence: 99%

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Antonio¹,

Dogan²,

Daidj³

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously. Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials. Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

show abstract

“…A literature review on the multisystem manifestations and social concerns relevant to DM1 cites low education attainment, low employment, and the need for supplemental income/financial assistance as social features of the disease [30]. In addition, DM1 often directly or indirectly causes a broad spectrum of cognitive manifestations, such as, visual spatial deficits, memory impairment, reduced executive function (trouble organizing & staying on task, reduced goal directed action), and apathy [1, 35-38]. …”

Section: Introductionmentioning

confidence: 99%

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

et al. 2016

View full text Add to dashboard Cite

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH supported National DM and FSHD Registry. The study was completed by 110 DM1, 49 DM2, and 193 FSHD patients. Notable comorbidities were hypertension in FSHD (44%) and DM2 (37%), gastroesophageal reflux disease in DM1 (24%) and DM2 (31%) and arrhythmias (29%) and thyroid disease (20%) in DM1. Each group reported high levels of adherence based on regimen complexity, medication costs, health literacy, side effect profile, and their beliefs about treatment. Only dysphagia in DM1 was reported to significantly impact medication adherence. Approximately 35% of study patients reported polypharmacy (taking 6 or more medications). Of the patients with polypharmacy, the DM1 cohort was significantly younger (mean=55.0 years) compared to DM2 (59.0 years) and FSHD (63.2 years) and had shorter disease duration (mean=26 years) compared to FSHD (26.8 years) and DM2 (34.8 years). Future research is needed to assess techniques to ease pill swallowing in DM1 and to monitor polypharmacy and potential drug interactions in DM and FSHD.

show abstract

Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy

Cited by 23 publications

References 32 publications

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

Contact Info

Product

Resources

About