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Home > Networks > Disorders of Neuromodulators and other small molecules (NOMS)

Disorders of Neuromodulators and other small molecules (NOMS)


Rationale

Neurotransmitter and small molecule disorders diseases are mainly characterized by a neurological picture often including movement disorders, epilepsy and developmental delay. Often invasive tests are required (for instance spinal fluid tap) to make the diagnosis and monitor therapy. Analysis of these samples are performed in a handful of specialized laboratories across Europe. Collaboration between neurologists and metabolic disease specialists is important to achieve optimal quality of live and symptom control. Vitamins can correct some of these disorders almost completely.

Objectives

The Neurotransmitter and small molecule disorders Core Network 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 Core Network 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 Core Network will 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 Core Network.

Coordinators

Angela Garcia Cazorla

Hospital Sant Joan de Déu, Esplugues. Barcelona, Spain.

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Thomas Opladen

University Children’s Hospital in Heidelberg, Germany

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Eliane Sardh

Karolinska University Hospital, Stockholm, Sweden

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