Coding of Rare Diseases: Orphanet nomenclature

Published by IRDiRC

Coding of Rare Disease Database or Tool Orphanet Research and Drug Development

Downloadable nomenclature and related resources

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Patient surveys / Patient Preferences studies / Ethnographic research

Published by IRDiRC

Clinical Development EndpoInternationalPatient Ethnographic Research Patient Preference Study Qualitative Assessment Research and Drug Development

Qualitative or quantitative assessments of the relative desirability or acceptability to patients of specified alternatives or choices among outcomes or other attributes that differ among alternative health interventions.

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Development and use of Patient-Centered Outcome Measures

Published by IRDiRC

Biomarker Clinical Development Endpoint Patient-Centred Outcome Measure Research and Drug Development

Patient-Centred Outcomes Measures (PCOMs) are questionnaires that ‘directly’ quantify the impact of a disease and treatment on health outcomes that matter to patients (as identified or affirmed by patients themselves, or their caregivers)

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New-born screening programs

Published by IRDiRC

Genetic Condition Newborn Sreening Programme Patient Information Rare Disease Research and Drug Development

The purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.

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Initiatives for undiagnosed diseases

Published by IRDiRC

Genetic Condition Genotype and Phenotype Matchmaking Patient Information Research and Drug Development Undiagnosed Disease Programme

The purposes of Undiagnosed Diseases Programs (UDPs) are to provide patients with an unknown genetic condition a diagnosis and to find the correlation between genotype and phenotype; to share globally the information to facilitate the diagnosis through a matchmaking for finding possible second cases

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FAIR principle for data use

Published by IRDiRC

FAIR Guideline Patient Registry Rare Disease Research and Drug Development

Lack of ultimate data use in rare disease created many silos slowing down development. The FAIR is coming to bridge this gap by proving essential guidelines for optimal data use.

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Feasibility-Patient engagement in trial endpoInternationalselection

Published by IRDiRC

Clinical Development Clinical Trial Endpoint Outcome Measure Patient Engagement Research and Drug Development Trail EndpoInternationalSelection

Guidance on the pivotal clinical trials outcomes measures .The important of the patient’s feedback. Academics can then assess whether there is an outcome measure available that can measure this – if not, outcome measure(s) may need to be developed.

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Feasibility-Patient engagement in trial design and feasibility

Published by IRDiRC

Eurordis Patient Engagement Patient Information Patient Organisation Patient Organisations Research and Drug Development

EURORDIS as first poInternationalof contact; the patient organization of the specific disease

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Registries for Rare Diseases

Published by IRDiRC

Database Patient Registry Registry for Rare Disease Research and Drug Development

Registries collect information on patients afflicted by a particular disease or group of diseases. By combining data on as many patients as possible, at the regional, national, European or global level, the potency of the data increases exponentially

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Natural History Studies (NHS)

Published by IRDiRC

Natural History Patient Data Research and Drug Development

A Natural History is the understanding of a disease progression throughout the lifespan of a patient. The collection of data from a significant number of patients affected by diverse phenotypes inside the same condition contribute to describe the history of a disease. It is a major issue in Rare Diseases research.

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The Innovation Management Toolbox was originally developed through funding from the EJP RD project, which received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 825575. The continued development and maintenance of the Toolbox are now supported by the ERDERA partnership, funded under the European Union’s Horizon Europe Research & Innovation programme, grant agreement No. 101156595.

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