TREAT-NMD patient registries and cohorts services

Provided by TREAT-NMD

TREAT-NMD can advise if a registry is available for a particular neuromuscular condition (contact email) and a list of registries by disease can be found here. The data in registries can be entered by patients themselves, by their doctor or by a combination of the two.
Registries can:
Identify participants for clinical trials
Help develop care standards, to help improve the care people receive
Support specific research questions
Provide information for doctors and scientists to learn more about neuromuscular diseases
Represent a link between patients and the research community, providing the opportunity for people to receive information directly relevant to their condition (for example, through newsletters)

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ENCepp patient registries and cohorts services

Provided by European Network of Centres for Pharmacoepidemiology and Pharmacovigilance (ENCepp)

The Resource Database is an electronic index of available EU research organisations, networks and data sources, including patient registries, in the fields of pharmacoepidemiology and pharmacovigilance, and is a key component of the ENCePP web portal. All information contained in this database is provided and maintained by the listed organisations, data providers or registry holders.
The Resource Database includes information on expertise and research experience across Europe and serves as a hub for both researchers and study sponsors seeking to identify organisations and data sets for conducting specific pharmacoepidemiology and pharmacovigilance studies in Europe.
The database is fully searchable and allows the identification of research centres, data sources and patient registries by country, type and other relevant criteria.

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DECIPHER data repositories (access/management/deposition) services


DECIPHER is a clinical and research tool used by the clinical community to share and compare phenotypic and genotypic data and to
1. Aid in the interpretation of data from genome-wide analyses e.g. the differentiation between pathogenic and benign genomic variants.
2. Utilise the human reference sequence via Ensembl and other genome browsers to define which genes are involved in a specific structural variant (e.g. copy number variant) and for smaller variants (e.g. sequence variants), whether they are positioned within a gene or regulatory element and predict their likely consequence.
3. Facilitate research into the study of genes that affect human health and development to define new gene-disease and variant-disease associations and to improve diagnosis, management and therapy of rare diseases.

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EBI data repositories (access/management/deposition) services


EBI makes the world’s public biological data freely available to the scientific community via a range of services and tools and helps scientists everywhere turn information into knowledge in the following areas:
Genes, genomes & variation
Protein sequences
Molecular & cellular structures
Chemical biology
Pathways & systems

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ELIXIR data repositories (access/management/deposition) services

Provided by ELIXIR

The goal of the ELIXIR Data Platform is to drive the use, re-use and value of life science data. It aims to do this by providing users with robust, long-term sustainable data resources within a coordinated, scalable and connected data ecosystem. Bioinformaticians and life science researchers in both academic and industrial settings need confidence in the sound governance, life cycle management, and long-term sustainability of those data resources.
Platform highlights
ELIXIR Core Data Resources: European data resources that are of fundamental importance to research in the life sciences and are committed to the long-term preservation of data.
ELIXIR Deposition Databases: repositories recommended for the deposition of life sciences experimental data.
Data resource services: this list is updated as Nodes finalise or review their Service Delivery Plans

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EOSC-Life management of clinical trial data services

Provided by EOSC-Life

Clinical Research Metadata Repository (including COVID-19 data), allowing researchers to access clinical studies and related data objects. These include, for example, protocols, information sheets and consent forms, data management plans, statistical analysis plans, case report forms, results, publications, descriptive metadata, etc. MDR contributes to making clinical research data from all disease areas FAIR by increasing data Findability. Browse and search metadata on clinical trials—as well as all related documents (standards, databases, policies) is a place to discover standards, repositories and data policies and how they interlink. It also features a prototype educational page on standards. The resource serves all disciplines and has been adopted by funders, publishers, RDA and other organisations.

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EU RD PLATFORM patient registries and cohorts services


The European Rare Disease Registry Infrastructure (ERDRI) renders rare disease registries’ data searchable and findable. This is achieved through the provision of following components: European Directory of Registries (ERDRI.dor), Central Metadata Repository (ERDRI.mdr) and Pseudonymisation Tool.

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SOURCE data repositories (access/management/deposition) services


LOVD is a free, flexible web-based open source database designed to collect and display variants in the DNA sequence. LOVD offers free hosting and support of LOVD-powered gene variant databases

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RD CONNECT patient registries and cohorts services

Provided by RD CONNECT

RD Connect

The RD-Connect Registry & Biobank Finder is an online directory of existing rare disease databases, registries and biobanks.

The RD-Connect Registry & Biobank Finder lets researchers find the rare disease patient registries and biobanks that store data on their rare disease of interest. The system provides databases’ contact data and the numbers of registered cases for each disease in the registry/biobank, regularly updated by the database curators.
Users can search the directory by disease name and its synonyms, ORPHA- or OMIM-codes and other keywords, such as the country or registry manager. The system also provides access to documents such as databases’ study protocols, case report forms, informed consent templates and data access agreements.

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ORPHADATA data repositories (access/management/deposition) services

Provided by ORPHADATA

Orphanet offers a range of freely accessible services:
(1) an inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications;
(2) an encyclopaedia of rare diseases in English and French, progressively translated into Dutch, German, Italian, Spanish, Polish, Portuguese, and Czech;
(3) an inventory of orphan drugs at all stages of development;
Orphanet datasets are available for research purposes at Orphadata provides the scientific community with comprehensive, quality data sets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats. Orphanet produces ORDO, the Orphanet Rare Diseases Ontology, and HOOM, the HPO-ORDO Ontological Module. Orphadata, part of the French node of ELIXIR, is an Elixir Core Data Resource. Orphanet and ORDO are IRDIRC Recognized Resources.

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