Useful Links
If you are a healthcare professional, researcher, patient, or caregiver seeking information or support, we have curated reliable sources for you. These resources encompass a wide range of essential information, including reputable organizations dedicated to inherited metabolic disorders, respected scientific societies involved in research and innovation, helpful research tools, supportive apps for individuals affected by metabolic disorders, and other important resources.
Whether you are looking for the latest research findings, clinical guidelines, community support, or networking opportunities, these resources aim to provide a guide to navigating the complexities of inherited metabolic disorders (IMDs). These resources provide access to the latest scientific publications, clinical trials, and workshops that can enhance your understanding IMDs.
- National & International Scientific Societies
- Support Groups & Patient Organisations
- Clinical Trials
- Useful Apps
- AECOM – Asociación Española para el Estudio de los Errores Congénitos del Metabolismo
- APS – Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (Working group for paediatric metabolic disturbances, Germany)
- ASIEM – Australasian Society for Inborn Errors of Metabolism
- BIMDG – British Inherited Metabolic Disease Group
- ESGCT – European Society of Gene and Cell Therapy
- Garrod Association – Canadian Association of Centres for Management of Hereditary Metabolic Diseases
- IBBS – International Brain Barriers Society
- ISIEM – Indian Society for Inborn Errors of Metabolism
- ISNS – International Society for Neonatal Screening
- Orphanet – The portal for rare diseases and orphan drugs
- SFEIM – Societé Française pour l’Étude des Erreurs Innées du Métabolisme
- SIMD – Society for Inherited Metabolic Disorders
- SIMMESN – Società Italiana per lo studio delle Malattie Metaboliche Ereditairie e lo Screening Neonatale
- SSIEM – The Society for Study of Inborn Errors of Metabolism
- CORD – Canadian Organization for Rare Disorders
- EURORDIS – European Organisation for Rare Disorders
- GARD – Genetic and Rare Diseases Information Center
- MSUK – Metabolic Support UK
- NORD – National Organization for Rare Disorders, USA
- NZORD – New Zealand Organisation for Rare Disorders
- Orphanet – The portal for rare diseases and orphan drugs
- RareConnect – Connecting Rare Disease Patients Globally
- SHCA – Specialised Healthcare Alliance
- UNIAMO – Italian Rare Diseases Federation
Patient organizations that are members of MetabERN network are listed in the section Our patient organisations.
- ClinicalTrials.gov – A service of the U.S. National Institutes of Health
- EU Clinical trials – Clinical trials for human medicines in the European Union (EU) and European Economic Area (EEA)
- EU Clinical Trials Register
- Conect4Children (C4C) – Collaborative network for European clinical trials for children
- IEMbase – A tool designed to help clinicians and scientists in establishing the best diagnosis and introducing the best possible treatment
- Metabolic Diets – A tracking app designed to support families and children dealing with a rare disease and that are on a restricted diet
- Online Inherited Metabolic Disease WebApp – An electronic resource that offers structured information on various aspects of metabolic diseases, including biochemistry, genetics, pathophysiology, patterns of manifestation, differential diagnosis and treatment
- Treatable ID – A digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with intellectual disability
