useful links for patients

• EURORDIS – European Organisation for Rare Disorders
  • Rare Disease Helplines made available by EURORDIS offer social, psychological and information solutions to people living with a rare disease and seek information and support
• RARE DISEASE INTERNATIONAL – A global alliance of people living with a rare disease of all nationalities across all rare diseases
• UNIAMO – Italian Rare Diseases Federation
• NORD – National Organization for Rare Disorders, USA
• CORD – Canadian Organization for Rare Disorders
• NZORD – New Zealand Organisation for Rare Disorders
• SHCA – Specialised Healthcare Alliance

Patient organizations that are members of MetabERN network are listed in the section Our patient organisations.

An Emergency Protocol is a plan that establishes guidelines and best practices to follow in case of metabolic emergencies in patients with Inherited Metabolic Diseases.

Dealing with metabolic emergencies might be a real challenge and burden for patients and their families, requiring specialised expertise and ready intervention to avoid potential complications. Recurrent metabolic decompensation is, in fact, a risk in many metabolic diseases and if an emergency occurs, the first measures are usually taken at home before seeking medical experts assistance.

This online tool is able to generate personalised emergency letters helping patients and families in home managing of metabolic emergencies and in the communication with local doctors in the first hour of in-hospital management until expert metabolic support is secured.

Read more about the Emergency Protocol and generate your emergency letter

A Patient Journey describes the full pathway a patient follows when navigating a specific condition – from early symptoms and diagnosis to treatment, follow-up, and long-term management. It helps illustrate what patients typically experience, highlighting key steps, decisions, and support needs along the way.

Below, you will find the patient journeys currently available. As we continue to expand our resources, additional pathways will be added.

• Patient Journey on PDH Deficiency

Inherited metabolic disorders (IMDs) is an umbrella term including more than 1400 diseases, most of which are extremely rare. Although the incidence of a single IMD is low (1:1.000.000 to 1:110.000 people) – the global incidence of all the diseases taken together range from 1:2500 to 1:800 people.

• Classification of IMDs
• ORPHANET – Knowledge on rare diseases and orphan drugs. Orphanet is a unique resource, gathering and improving knowledge on rare diseases and ensuring equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
  • The Orphanet Encyclopedia is made up of informative texts including; articles for general public, guidelines (emergency, anesthesia and clinical practice), disease review articles (general review articles, clinical genetics review and diagnostic criteria), disability fact sheet, guidelines for genetic testing and summary information in different languages.
• GARD – The Genetic and Rare Diseases Information Center. GARD maintains a list of rare diseases and related terms to help people find reliable information about their condition. You can search disease-specific information here.

Clinical trials are research studies designed to evaluate the safety, effectiveness, and optimal use of medical treatments, diagnostics, and interventions. They play a crucial role in advancing scientific knowledge and improving patient care by generating high-quality evidence.

Below, you will find key resources and databases where clinical trial information can be searched and accessed.

• EU Clinical trials – Clinical trials for human medicines in the European Union (EU) and European Economic Area (EEA)
• ClinicalTrials.gov – A service of the U.S. National Institutes of Health
• Conect4children Stichting (c4c-S) – A pioneering pan-European network dedicated to paediatric clinical trials. The network comprises high-quality, trial-ready sites and experts from multiple disciplines.

Newborn screening (NBS) is a vital public health program that enables the early detection of serious rare conditions in newborns. These screenings, performed within the first days of life, can identify treatable disorders that, if left undiagnosed, may lead to severe health complications or even death. Through early diagnosis, newborn screening offers the potential for timely interventions that can significantly improve the quality of life and long-term outcomes for affected children.

Read more about Newborn Screening

European Reference Networks (ERNs) are virtual networks involving Reference Centers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources. 

• Read more about European Reference Networks

MetabERN is a European Reference Network of healthcare providers and patient organisations focused on rare metabolic diseases.

• MetabERN leaflet – To learn more about MetabERN, its objectives, and its activities, you can refer to this leaflet created by our patient organisations in collaboration with our experts. It contains a simple, concise, and easy-to-understand summary of MetabERN’s mission, objectives, and activities designed to address patients needs.
• Other informative materials

Inherited metabolic disorders (IMDs) is an umbrella term including more than 1400 diseases, most of which are extremely rare. Although the incidence of a single IMD is low (1:1.000.000 to 1:110.000 people) – the global incidence of all the diseases taken together range from 1:2500 to 1:800 people.

MetabERN is a European Reference Network of healthcare providers and patient organisations focused on rare metabolic diseases. To learn more about MetabERN, its objectives, and its activities, you can refer to this leaflet created by our patient organisations in collaboration with our experts. It contains a simple, concise, and easy-to-understand summary of MetabERN’s mission, objectives, and activities designed to address patients needs.

• Inherited Metabolic Disorders
• Orphanet – The portal for rare diseases and orphan drugs
• GARD – Genetic and Rare Diseases Information Center