The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities

Wei, Yuanyuan; McCormick, Anna; MacKenzie, Alex; O’Ferrall, Erin; Venance, Shannon L.; Mah, Jean K.; Selby, Kathryn; McMillan, Hugh J.; Smith, Garth; Oskoui, Maryam; Hogan, Gillian; McAdam, Laura; Mabaya, Gracia; Hodgkinson, Victoria; Lounsberry, J.; Campbell, Craig

doi:10.1093/pch/pxx125

Cited by 13 publications

(10 citation statements)

References 15 publications

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“…Patients with CK elevation in our study were both symptomatic and asymptomatic, although more cases were symptomatic. The most common cause was dystrophinopathy in both groups, compatible with the fact that the most common childhood neuromuscular disease is Duchenne muscular dystrophy, a dystrophinopathy with an incidence of 1/3,500-1/5,000 in male children (10) . A recent study presented a spectrum of hyperCKemia according to the extent of CK elevation; the most common diagnosis being dystrophinopathy within all three groups.…”

Section: Discussionsupporting

confidence: 56%

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Uzunhan¹,

Ertürk²,

Cubuk³

et al. 2020

BUCH

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Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics. Methods: Patients aged 0-18 years old with neuromuscular manifestations (e.g., weakness, hypotonia, creatine kinase elevation) who were admitted to Okmeydani Training and Research Hospital between January 2017 and July 2019 were included. Retrospectively, patient demographics, clinical signs, laboratory tests, diagnoses, clinical follow-up were recorded. Results: Forty-five patients aged 67.8±59.6 months were included in the study. Thirteen (29%) patients were female, and 32 (71%) were male. Creatine kinase levels were increased in 26 (58%) patients (median: 3211 IU/L). Twenty-four patients underwent electromyography; seven patients had neuropathy and nine patients muscular pathologies. Three (0.07%) patients underwent muscle biopsy and had nonspecific myopathic changes. Twenty-six (58%) patients out of 45 had a definite diagnosis, and 21 of these diagnoses were genetically confirmed. Seven patients had been subjected to next generation sequencing, and five of these were diagnosed with dystrophinopathy, hypokalemic periodic paralysis, mental retardation autosomal dominant type 9, Ullrich muscular dystrophy, and calpainopathy. Altogether, the most common diagnoses were dystrophinopathy, spinal muscular atrophy, and chronic inflammatory demyelinating polyneuropathy. Conclusion: After a patient history is taken, a physical examination is conducted, and serum creatine kinase levels are measured, establishment of diagnosis is possible through targeted genetic tests for diseases like dystrophinopathy. However, for patients who cannot be diagnosed with this approach, neuromuscular panels and whole exome sequencing can provide a diagnosis.

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Section: Discussionsupporting

confidence: 56%

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Uzunhan¹,

Ertürk²,

Cubuk³

et al. 2020

BUCH

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“…Patient registries play an important role in neuromuscular diseases, particularly for the recruitment and planning of clinical trials. Furthermore, data from patient registries enable studies on disease epidemiology, natural history, functional outcomes or real world evaluation of drug efficacy and post-marketing drug surveillance and thus to improve care of these patients [12, 13]. Additionally, patient registries make data on novel treatment options, current clinical trials and research results available to participating patients and families [12].…”

Section: Discussionmentioning

confidence: 99%

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

König

Pechmann

Thiele³

et al. 2019

Orphanet J Rare Dis

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Background Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different organizations behind firewalls to protect the privacy of patients. They tend to be fragmented, incomplete and their aggregation leads to further inaccuracies, as the duplicated records cannot easily be identified. We here report about a novel approach to evaluate the incidences of Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) in Germany. Methods We performed a retrospective epidemiological study collecting data from patients with dystrophinopathies (DMD and Becker muscular dystrophy) and SMA born between 1995 and 2018. We invited all neuromuscular centers, genetic institutes and the patient registries for DMD and SMA in Germany to participate in the data collection. A novel web-based application for data entry was developed converting patient identifying information into a hash code. Duplicate entries were reliably allocated to the distinct patient. Results We collected 5409 data entries in our web-based database representing 1955 distinct patients with dystrophinopathies and 1287 patients with SMA. 55.0% of distinct patients were found in one of the 3 data sources only, while 32.0% were found in 2, and 13.0% in all 3 data sources. The highest number of SMA patients was reported by genetic testing laboratories, while for DMD the highest number was reported by the clinical specialist centers. After the removal of duplicate records, the highest yearly incidence for DMD was calculated as 2.57:10,000 in 2001 and the highest incidence for SMA as 1.36:10,000 in 2014. Conclusion With our novel approach (compliant with data protection regulations), we were able to identify unique patient records and estimate the incidence of DMD and SMA in Germany combining and de-duplicating data from patient registries, genetic institutes, and clinical care centers. Although we combined three different data sources, an unknown number of patients might not have been reported by any of these sources. Therefore, our results reflect the minimal incidence of these diseases. Electronic supplementary material The online version of this article (10.1186/s13023-019-1125-2) contains supplementary material, which is available to authorized users.

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“…Most other registries collect data via forms filled by medical practitioners, while the US registry has a self-report component, but its scope is essentially restricted to patient recruitment and expanding knowledge on the burden of the disease [ 30 ]. Besides, some FSHD registries are part of larger projects aiming at collecting data from major neuromuscular pathologies [ 24 , 25 ]. In the French FSHD registry, most items in the clinical evaluation form are mirrored in the self-report questionnaire to assess data quality and identify, for each item, who is best suited to provide the answer (either the patient or the physician).…”

Section: Discussionmentioning

confidence: 99%

“…The French National Registry of FSHD patients is part of a national effort to develop national databases [ 22 – 25 ]. These initiatives should now interact with other initiatives to build a European and/or an international FSHD virtual registry.…”

Section: Discussionmentioning

confidence: 99%

“…Today various national registries have been or are being set up as reported in the TREAT-NMD website ( http://www.treat-nmd.eu ). They are either disease-centric in the United-Kingdom [ 22 ], Italy [ 23 ], Czech Republic, Netherlands, or part of larger registries including multiple neuromuscular diseases in the United States [ 24 ], Canada [ 25 ], Egypt, New-Zealand, Spain and Russia. A recent ENMC international workshop was dedicated to FSHD registries to ultimately harmonize data content to allow data sharing and match-making between registries [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Guien

Blandin

Lahaut

et al. 2018

Orphanet J Rare Dis

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BackgroundFacioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients’ identification through registries can facilitate and improve recruitment in clinical trials and studies.ResultsThe French National Registry of FSHD patients was designed as a mixed model registry involving both patients and physicians, through self-report and clinical evaluation questionnaires respectively, to collect molecular and clinical data. Because of the limited number of patients, data quality is a major goal of the registry and various automatic data control features have been implemented in the bioinformatics system. In parallel, data are manually validated by molecular and clinical curators. Since its creation in 2013, data from 638 FSHD patients have been collected, representing about 21% of the French FSHD population. The mixed model strategy allowed to collect 59.1% of data from both patients and clinicians; 26 and 14.9% from respectively patients and clinicians only. With the identification of the FSHD1 and FSHD2 forms, specific questionnaires have been designed. Though FSHD2 patients are progressively included, FSHD1 patients still account for the majority (94.9%). The registry is compatible with the FAIR principles as data are Findable, Accessible and Interoperable. We thus used molecular standards and standardized clinical terms used by the FILNEMUS French network of reference centers for the diagnosis and follow-up of patients suffering from a rare neuromuscular disease. The implemented clinical terms mostly map to dictionaries and terminology systems such as SNOMED-CT (75% of terms), CTV3 (61.7%) and NCIt (53.3%). Because of the sensitive nature of data, they are not directly reusable and can only be accessed as aggregated data after evaluation and approval by the registry oversight committee.ConclusionsThe French National Registry of FSHD patients belongs to a national effort to develop databases, which should now interact with other initiatives to build a European and/or an international FSHD virtual registry for the benefits of patients. It is accessible at www.fshd.fr and various useful information, links, and documents, including a video, are available for patients and professionals.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0960-x) contains supplementary material, which is available to authorized users.

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The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities

Abstract: The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canada's visibility as a competitive location for the conduct of clinical trials for NM therapies.

Cited by 13 publications

References 15 publications

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

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