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

Abstract

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.

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

“…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].…”

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018

“…One good example of patient co-creation in research program is the launching of patient-driven, professionally supported disease registries, like the UK myotonic dystrophy registry, where the patient initiates the registration and names a doctor that enters the clinical data. Criticized in the past for the risk of bias and of gaps in the data, such registries actually delivered the basis for risk stratification and drug evaluation studies and allowed, with large cohorts of well characterized patients, for a faster clinical trial readiness in a number of clinical trials and studies that followed (20)(21)(22)(23)(24). Based on the same principle of shared governance between clinicians and patient organisations, the TREAT-NMD global registries have been recognized by the IRDiRC as a valuable and important resource [23][24][25][26][27].…”

“…Criticized in the past for the risk of bias and of gaps in the data, such registries actually delivered the basis for risk stratification and drug evaluation studies and allowed, with large cohorts of well characterized patients, for a faster clinical trial readiness in a number of clinical trials and studies that followed (20)(21)(22)(23)(24). Based on the same principle of shared governance between clinicians and patient organisations, the TREAT-NMD global registries have been recognized by the IRDiRC as a valuable and important resource [23][24][25][26][27]. Another good example is the International Charter of principles for sharing bio-specimens and data, developed in collaboration with patient representatives and meant to offer a tool to overcome contradictory legal and ethical frameworks across national borders that obstacle effective sharing [28].…”

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands

“…Davide Pareyson reported the experience of the Italian SBMA Registry, which has been developed to (i) collect data useful for epidemiological and natural history studies, (ii) test outcome measures, (iii) facilitate recruitment in clinical trials, (iv) develop biomarkers, and (v) build a biorepository. Davide Pareyson presented the format of the Registry which is active at the https//:www.registronmd.it website [29] The minimal dataset to be collected has been agreed during a previous ENMC workshop [30] . The Registry is already predisposed to become an international registry as all items are in English [31] ; only the section filled by the patients requires translation.…”