Disorders of neuromodulators and other small molecules
Neurotransmitter and small molecule disorders are primarily characterised by general neurological symptoms such as movement disorders, developmental delay, epileptic encephalopathy, and intellectual disability. The central nervous system is clearly the most affected, but the autonomous nervous system and cardiovascular system can also be impacted.
Symptoms are more specific depending on the underlying deficit, whether it stems from a lack of biogenic amines, a lack of amino acid neurotransmitters, or a dysfunction in the transporters and enzymes involved in their metabolism. Symptoms can appear at any time, from birth to adulthood, and often overlap with symptoms seen in many other neurological conditions, making it difficult to obtain an early and appropriate diagnosis.
Diagnosis relies on the quantification of amino acids and biogenic amines, and invasive tests, such as spinal fluid taps, are often required for the diagnostic process and to monitor therapy effectiveness. A few specialised laboratories in Europe are performing the analysis of these samples. Collaboration between neurologists and metabolic disease specialists is essential in the management of these disorders and to improve the quality of life of patients. In some cases, vitamin supplementation can correct certain kinds of disorders almost completely.
Objectives
The Neurotransmitter and small molecule disorders subnetwork within the MetabERN aims to:
- gain an overview of patients with neurotransmitter and small molecule disorders diseases in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
- promote awareness towards neurotransmitter and small molecule disorders diseases in the EU.
- facilitate the more rapid diagnosis of neurotransmitter and small molecule disorders diseases in the EU as often a significant diagnostic delay is still present.
- improve and standardize management of neurotransmitter and small molecule disorders diseases in the EU.
- improve prospects of patients with neurotransmitter and small molecule disorders disease in the EU by initiating and contributing to research and implementation of innovative therapies.
Organizational structure
The Neurotransmitter and small molecule disorders subnetwork will consist of participating HCPs within the MetabERN with expertise in the field of neurotransmitter and small molecule disorders diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of neurotransmitter and small molecule disorders diseases. Working groups will be formed to address different important topics within the field of neurotransmitter and small molecule disorders diseases.
These include:
- Prevention & Screening for neurotransmitter and small molecule disorders diseases.
- Diagnosis of (new) neurotransmitter and small molecule disorders diseases (including identification of biomarkers).
- Management of neurotransmitter and small molecule disorders diseases (development of clinical guidelines & care paths).
- Epidemiology & Outcome (participation in existing and development of new registries).
- Education and Training (development of E-learning tools, work-shops and courses).
- Virtual Counselling (for specific diseases at different HCPs with specific expertise).
- Patient Empowerment (organization of patient meetings and interaction with patient organizations).
- Research (fundamental, translational, clinical).
The executive board of the Neurotransmitter and small molecule disorders subnetwork will be formed by the chairpersons of the working groups. An advisory board (with members of patients organizations, policy makers, etc) will be appointed to monitor the different activities of the Neurotransmitter and small molecule disorders subnetwork.
Coordinators
Patient Representative
