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Disorder of pyruvate metabolism, krebs cycle defects, mitochondrial oxidative phosphorylationdisorders of thiamine transport and metabolism (PM-MD)


Rationale

Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism provides the essential fuel (ATP) for the functioning of the human cell. More than 300 genes are involved in normal mitochondrial function. The clinical presentation can be quite diverse ranging from eye disease to multisystem, neurologic and myopathic involvement. While this represents the most common inborn error in metabolism the severity can vary a lot from lethally affected newborns to monosymptomatic elderly. Diagnosis is certainly not straightforward as one mitochondrial disease can present with a multitude of symptoms and on the other hand, one symptom can be cause by many different mitochondrial diseases. Respiratory chain complexes (the important functional part of the mitochondrion) can be analyzed by a few highly specialized laboratories across Europe. Treatment is often lacking, although numerous clinical trials have been launched.

Objectives

The Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism Core Network within the MetabERN aims to:

- gain an overview of patients with Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
- promote awareness towards Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases in the EU.
- facilitate the more rapid diagnosis of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases in the EU as often a significant diagnostic delay is still present.
- improve and standardize management of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases in the EU.
- improve prospects of patients with Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism disease in the EU by initiating and contributing to research and implementation of innovative therapies.

Organizational structure

The Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism Core Network will consist of participating HCPs within the MetabERN with expertise in the field of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases. Working groups will be formed to address different important topics within the field of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases.

These include:

- Prevention & Screening for Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases.
- Diagnosis of (new) Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism diseases (including identification of biomarkers).
- Management of Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism 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 Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism 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 Disorders of pyruvate metabolism, mitochondrial oxidative disorders, thiamine transport and metabolism Core Network.

Coordinators

Enrico Bertini

Ospedale Pediatrico Bambino Gesù

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Manuel Schiff

Assistance Publique Hôpitaux de Paris- University Hospital Robert-Debré

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Shamina Rahman

UCL Great Ormond Street Institute of Child Health, London, UK

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