Subnetworks

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.

Rationale

Carbohydrate, fatty acid oxidation and ketone bodies diseases constitute a diverse group of inherited disorders playing a central role in the energy requirements of the cell. Most are characterized by hypoglycemia in relation to food intake. Hypoglycemia is one of the most common presentation of inborn errors of metabolism. Diagnostic work-up can be difficult and can require sampling at the time of a hypoglycemia. In some disorders cardiomyopathy or myopathy is a central feature. Dietary therapy and avoidance of fasting plays an important role in preventing morbidity.

Objectives

The Carbohydrate, fatty acid oxidation and ketone bodies Core Network within the MetabERN aims to:

• • gain an overview of patients with carbohydrate, fatty acid oxidation and ketone bodies disorders in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
  • promote awareness towards carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU.
  • facilitate the more rapid diagnosis of carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU as often a significant diagnostic delay is still present.
  • improve and standardize management of carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU.
  • improve prospects of patients with carbohydrate, fatty acid oxidation and ketone bodies disease in the EU by initiating and contributing to research and implementation of innovative therapies.

Organizational structure

The Carbohydrate, fatty acid oxidation and ketone bodies Core Network will consist of participating HCPs within the MetabERN with expertise in the field of carbohydrate, fatty acid oxidation and ketone bodies diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of carbohydrate, fatty acid oxidation and ketone bodies diseases. Working groups will be formed to address different important topics within the field of carbohydrate, fatty acid oxidation and ketone bodies diseases.

These include:

• Prevention & Screening for carbohydrate, fatty acid oxidation and ketone bodies diseases.
• Diagnosis of (new) carbohydrate, fatty acid oxidation and ketone bodies diseases (including identification of biomarkers).
• Management of carbohydrate, fatty acid oxidation and ketone bodies 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 Carbohydrate, fatty acid oxidation and ketone bodies Core Network 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 Carbohydrate, fatty acid oxidation and ketone bodies Core Network.

Rationale

Lysosomal diseases constitute a group of over 50 inherited disorders in lysosomal metabolism.
Most have multi-organ involvement, all are progressive and many have neurodegenerative features.
Some can be treated, but for most only supportive care is available.
The combined incidence is estimated at 1 new case per 5.000-10.000 newborns per year, which results in approximately 500 to 1000 new patients with a lysosomal disease in the EU per year.
Diagnosis can be difficult as symptoms may slowly progress and highly specialized diagnostic tools are mandatory, often resulting in diagnostic delays. Large differences in awareness, availability of diagnostic tools and treatment options exist between countries in the EU.

Objectives

The Lysosomal Core Network within the MetabERN aims to:

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

Organizational structure

The Lysosomal Core Network will consist of participating HCPs within the MetabERN with expertise in the field of lysosomal diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of lysosomal diseases. Working groups will be formed to address different important topics within the field of lysosomal diseases.

These include:

• Prevention & Screening for lysosomal diseases.
• Diagnosis of (new) lysosomal diseases (including identification of biomarkers).
• Management of lysosomal 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 Lysosomal 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 Lysosomal Core Network.

Rationale

Peroxisomal diseases and lipid related disorders constitute a growing group of inborn errors of metabolism. There clinical presentation of peroxisomal disorders can be quite diverse ranging from neurological and behavioral disease to bone abnormalities. Some are progressive and many have neurodegenerative features. For most of these diseases, treatment is largely supportive. The incidence of peroxisomal disorders is estimated at 1 new case per 20.000 newborns per year. Diagnosis can be difficult as symptoms may slowly progress and highly specialized diagnostic tools are mandatory, often resulting in diagnostic delays. Large differences in awareness, availability of diagnostic tools and treatment options exist between countries in the EU.

The lipid related disorders are a diverse group of inborn errors of metabolism. They include lipid synthesis and transport defects, and one of the most frequent group of IMDs.

Objectives

The Peroxisomal and lipid related disorders Core Network within the MetabERN aims to:

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

Organizational structure

The Peroxisomal and lipid related Core Network will consist of participating HCPs within the MetabERN with expertise in the field of these diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field. Working groups will be formed to address different important topics within the field of peroxisomal and lipid diseases.

These include:

• Prevention & Screening for peroxisomal and lipid diseases diseases.
• Diagnosis of (new) peroxisomal and lipid diseases (including identification of biomarkers).
• Management of peroxisomal and lipid 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 Peroxisomal and lipid related 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 Peroxisomal and lipid related Core Network.

Rationale

Congenital disorders of glycosylation diseases constitute a group of over 100 inherited disorders and every year new disorders are being discovered. Many proteins in the human body are glycosylated to be able to fulfill their function. Glycosylated proteins play a role in multiple biologic processes, and participate in cellular trafficking. Disorders of glycosylation present often with multisystem diseases. For some of these disorders dietary therapy with simple sugars can lead to great clinical improvements. Supportive care is paramount and care strategies vary broadly in Europe.

Objectives

The Congenital disorders of glycosylation Core Network within the MetabERN aims to:

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

Organizational structure

The Congenital disorders of glycosylation Core Network will consist of participating HCPs within the MetabERN with expertise in the field of congenital disorders of glycosylation diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of congenital disorders of glycosylation diseases. Working groups will be formed to address different important topics within the field of congenital disorders of glycosylation diseases.

These include:

• Prevention & Screening for congenital disorders of glycosylation diseases.
• Diagnosis of (new) congenital disorders of glycosylation diseases (including identification of biomarkers).
• Management of congenital disorders of glycosylation 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 Congenital disorders of glycosylation 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 Congenital disorders of glycosylation Core Network.

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.