The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

O’Grady, Gina L.; Hammond-Tooke, Graeme; Kidd, Alexa; Love, D.; Baker, Ronelle K.; Roxburgh, Richard

doi:10.3233/jnd-170240

Cited by 7 publications

(3 citation statements)

References 16 publications

(8 reference statements)

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“…Moreover, it created a virtuous circle for the empowerment of new POs and their participation in data stewardship and decision-making processes. Several other examples in the NMD field show this positive trend [ 49 – 51 ]. Moreover, these principles are also emphasized in the recent AHQR White Paper “Patient- or Participant-Generated Registries” [ 52 ] and in the recent Brocher Foundation workshop report [ 53 ].…”

Section: Discussionmentioning

confidence: 76%

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Ambrosini

Calabrese

Avato

et al. 2018

Orphanet J Rare Dis

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BackgroundThe worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009, with the referring clinical network providing input and support to this initiative through the years. This article describes the outcome of this joint effort and shares the experience gained.MethodsThe Italian NMD registry is based on an informatics technology platform, structured according to the most rigorous legal national and European requirements for management of patient sensitive data. A user-friendly web interface allows both direct patients and clinicians’ participation. The platform’s design permits expansion to incorporate new modules and new registries, and is suitable of interoperability with other international efforts.ResultsWhen the Italian NMD Registry was initiated, an ad hoc legal entity (NMD Registry Association) was devised to manage registries’ data. Currently, several disease-specific databases are hosted on the platform. They collect molecular and clinical details of individuals affected by Duchenne or Becker muscular dystrophy, Charcot-Marie-Tooth disease, transthyretin type-familial amyloidotic polyneuropathy, muscle glycogen storage disorders, spinal and bulbar muscular atrophy, and spinal muscular atrophy. These disease-specific registries are at different stage of development, and the NMD Registry itself has gone through several implementation steps to fulfil different technical and governance needs. The new governance model is based on the agreement between the NMD Registry Association and the professional societies representing the Italian NMD clinical network. Overall, up to now the NMD registry has collected data on more than 2000 individuals living with a NMD condition.ConclusionsThe Italian NMD Registry is a flexible platform that manages several condition-specific databases and is suitable to upgrade. All stakeholders participate in its management, with clear roles and responsibilities. This governance model has been key to its success. In fact, it favored patient empowerment and their direct participation in research, while also engaging the expert clinicians of the Italian network in the collection of accurate clinical data according to the best clinical practices.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0918-z) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 76%

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Ambrosini

Calabrese

Avato

et al. 2018

Orphanet J Rare Dis

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“…The CNDR is a pan-neuromuscular disease registry with clinic-based data entry. This multi-disease methodology is an efficient and comprehensive model that has also been implemented by other NM registries such as Australia and New Zealand [ 24 ], Belgium [ 25 ], and the Netherlands [ 26 ], but differs from the disease-specific registries across Europe and the United States (e.g., United Kingdom SMA, DM [ 27 ], and DMD registries, or Duchenne Connect in the United States) and worldwide registries for ultra-rare NMD such as Pompe [ 28 ] and GNE myopathy. Clinic-based recruitment and data entry, along with close working relationships with patient organizations, has allowed the CNDR to recruit individuals from many regions across Canada.…”

Section: Discussionmentioning

confidence: 99%

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

Hodgkinson

Lounsberry

M’Dahoma

et al. 2021

JND

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We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.

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“…Pompe disease (glycogen storage disease type II) does not belong directly to the HNMD group; how- ever, considering that the clinical picture is dominated by a myopathic syndrome and that there is a pathogenetic enzyme replacement therapy available which, if administered in children propmtly, provides a favorable prognosis, this disorder is also included in the list of diseases that are the basis for referral of children to the Republican Center for HNMDs to determine the strategy for treatment and medical rehabilitation. In New Zealand, Pompe disease is also included in the country's registry of HNMDs [10].…”

Section: Methodsmentioning

confidence: 99%

Hereditary neuromuscular diseases in children of Belarus: Republican Register date

Zhаuniaronak

Шалькевич

Smychek

et al. 2021

INJ

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Background. In many countries, problems of rare orphan diseases have recently been discussed, more specifically, hereditary neuromuscular diseases (HNMDs). As for 2020 data, there were about 400 million people worldwide suffering from different types of rare diseases which comprise over 7,000 nosologies. The data from official statistics in many countries do not provide detailed information on the prevalence of HNMDs; it is possible to obtain precise information on morbidity, mortality, analyses of genetic causes, social impact, etc. only in those countries that have registries of patients with HNMDs. Materials and methods. To evaluate the situation with HNMDs in the Republic of Belarus, the pediatric population was examined. The Republican Center for Hereditary Neuromuscular Diseases (RC HNMD) for children was founded, based on which there were formed a computer database and the registry of patients with hereditary neuromuscular diseases. The age of patients was 0 to 18 years old (including 17 years 11 months 29 days). The study was designed as a retrospective, entire, and comparative (by nosologies). Results. As of December 31, 2020, the HNMDs registry for children (0–17 years) demonstrated that the HNMDs prevalence was 2.34 cases per 10,000 age-matched population. The results showed that in type I spinal muscular atrophy the median time before diagnosis verification decreased almost 3-fold: before 2019 it was 7 months, while in 2019–2020, Me = 2.6 months; p < 0.001. Also, there is a significant reduction of the period for verification of the diagnosis of type II spinal muscular atrophy, i.e. from Me = 16 months (before 2019) to Me = 7.5 months (2019–2020), p < 0.05, which demonstrates the importance of establishing a centralized RC HNMD for children in Belarus and substantiates the necessity of developing its structure and cooperation with other community-based and government organizations. Conclusions. Within the structure of HNMDs nosologies, the top ones were taken by Duchenne-Becker muscular dystrophy — 0.8 per 10.000 age-matched population people spinal muscular atrophy — 0.5 per 10,000 of age-matched population, hereditary polyneuropathies — 0.4 by 10,000 of age-matched population. The study results show that the proportion of children born preterm (before 37 weeks of gestation) from the total amount of all children with registered HNMD accounts for 6.4 %, while the highest rate was found for spinal muscular atrophy, which gives the reason to study children born preterm from the standpoint of alertness due to HNMD. The register data in the Republic of Belarus demonstrate the highest specific weight of dystrophynopathies within the structure of HNMDs, which made 40.8 % (178/436) from the total number of HNMDs cases of Registry with the prevalence of 0.95 per 10,000 age-matched population (0–17 years) along with limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophies.

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The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

Cited by 7 publications

References 16 publications

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

Hereditary neuromuscular diseases in children of Belarus: Republican Register date

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