The staff in the NCIMD are actively engaged in research, audits, and quality improvement projects. The Consultants, Dieticians, Doctors, Nursing and Psychology Team have extensive research expertise and a substantial portfolio of publications. As part of the team, we have a Research Project Manager and Clinical Research Coordinator who coordinate clinical research projects supported by the Research and Innovation Office, Children’s Health Ireland.


The CHI Research and Innovation Office was established to guide future progress in terms of delivering impactful research and innovation to help our patients. Bringing together expertise from all over Children’s Health Ireland and with their partners they have expanded to provide integrated services to researchers and innovators within CHI. Their team continues to develop, and they are focused on supporting staff and researchers to deliver the greatest benefit to the children who attend our services.


General research information

Metabolic research queries

Clinical Research

Is medical research that studies people to understand health conditions better. It ultimately helps to improve the way doctors treat and prevent medical conditions. It allows researchers learn how the body works, how conditions develop in people, which behaviours and treatment help people stay healthy and prevent illness. The aim is to use science to improve people’s health care and health over time. The participants who join and take part in clinical research studies may or may not get an immediate direct benefit. However, their participation in research will ultimately improve the lives of future children living with similar health conditions.

There are two main types of clinical research:

1. Clinical trials/ interventional studies and

2. Observational/ non-interventional studies

1. Clinical Trials

Clinical trials are research studies in which participants get one or more treatments or therapies to test what happens in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease. In some clinical trials, researchers randomly assign participants to treatments. This randomisation is vital as it ensures that any positive benefits of the treatment are due to the treatment being tested and not due to other differences in the participants or the participants research experiences. In short it makes research more accurate, reliable, and fair for all.

When you take part in a clinical trial, you add to our knowledge about your health condition and help improve care for people in the future.

There are currently no open clinical trials at NCIMD, although we hope to have one soon.

2. Observational studies

Observational studies are research studies in which researchers simply collect information (called data) from participants (prospective) or look at data that was already collected (retrospective). The data may be about participants’ health, bloods, treatments, procedures, family history etc. In observational studies, researchers do not assign participants to get a treatment. If there is a treatment, participants were already using it as part of their regular health care or daily life.

NCIMD are currently involved in two types of observational studies registries and natural history studies.


A patient registry is an organized collection of data that patients agree to give. Researchers can use a patient registry to quickly access data provided by hundreds, or thousands, of similar patients.

Natural History Studies

Natural history studies are a way of collecting information to increase the understanding of a disease and its management. A natural history study is a preplanned, observational study intended to track the course of the disease. Its purpose is to identify demographic, genetic, environmental, and other variables (e.g., treatment modalities, concomitant medications) that relate to the disease's development and outcomes.

NCIMD currently have four externally (Sponsor) funded observational studies in Homocystinuria (HCU)/ Cystathionine beta-synthase deficiency,  Mucopolysaccharidosis type IV (MPS IV)/ Morquio syndrome,  Mucopolysaccharidosis type 1 (MPS 1)/ Scheie and Hurler syndrome.

Each of these studies is led by a principal investigator (PI). At NCIMD the PI is usually a Consultant Metabolic Paediatrician or medical doctor. The PI leads a team of research staff that could include doctors, dieticians, nurses, researchers, and healthcare assistants. The Consultant is qualified and knows the patient well ensuring that patient safety and well-being is precedence.

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Research Projects

Current Areas of Interest

In addition to externally funded studies, NCIMD have extensive internal research projects and international collaborations ongoing at the NCIMD. A number of topics are covered by these projects.

Topics covered include:

  • Galactosemia
  • Glutaric Aciduria,
  • Homocystinuria
  • Infantile Liver Failure Syndromes,
  • Lysosomal Storage Disorders,
  • Maple Syrup Urine Disease
  • Mitochondrial Disorders
  • Urea Cycle Defects
  • Health of marginalised children over-represented in the metabolic service.

Research Collaborations

In addition to Centre based research projects the Metabolic Clinical Team contribute to and collaborate with experts in Inherited Metabolic Disorders internationally. The primary aim of this collaboration is to improve IMD care, diagnosis, quality of life globally. Examples below.


The European Reference Network for Rare Inherited Metabolic Diseases (MetabERN) is a non-profit network that was launched by the European Commission in 2017.  MetabERN aims to facilitate access to the best available diagnosis and care, improve quality of life, provide equal access to therapies, and address the needs across borders for all patients and their families affected by IMDs. MetabERN is Europe’s largest organised network of healthcare providers (HCPs) specialised in treating IMD patients, has the most complete database of patients affected by IMDs. Specifically: 101 HCPs, ~3,000 multidisciplinary professionals, ~80,000 patients, and 44 patient organisations. It connects the most specialised centres in rare IMDs to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs. MetabERN is entirely led by patients and experts. Combining patient experience and expert knowledge from across the EU captures the most innovative medical advances and tailors them to patient needs.


Recon4IMD is a Horizon Europe funded collaborative project, between researchers, clinician, and patients established to promote health for children, adolescents and adults affected by rare Inherited Metabolic Disorders (IMDs). In addition, it aims to accelerate the diagnosis, and enable personalised management, of inherited metabolic diseases. It is implemented by a group of world-class scientists and clinicians from a diversity of disciplines who have collaborated multiple times and have a track record of leading key national and EU-funded initiatives to deliver high-impact results.

For further information, please consult the project website: