Short description:
Metabolic diseases Expert Group (MEG), aimed at facilitating the access to metabolic Experts.
The understanding of the natural history of a disease is one of the key priorities of the of patients to clinical trials. The enlargement of the current working group will also provide expert opinion about inclusion and exclusion criteria and updated knowledge for setting up specific studies design, standard of care, research studies, and definition of research goals. All diseases will be considered equally relevant for the research activities of the MEG.
Strength:
Understanding of natural history
• Provision of evidence-based information about the numbers of people who would be eligible for research studies
• Identification of potential participants to studies
• Judgements about the best inclusion / exclusion criteria for research studies
• Experience-based opinion about information about standard care and variations in standard care
• Evidence-based
• Rigorous prioritisation of research goals (including what to study when there are numerous molecules and limited patients
Additional information:
Paediatric rare diseases constitute a large medical, social and economic issue. Among them, metabolic diseases are a group of about 800 conditions. Most of them are lethal at birth or progressive and life-threatening, leading to severe physical and mental impairment caused by genetic alterations inherited from parents. Any of these defects prevent the complete degradation and recycling of specific macromolecules, and thus results in a progressive and systemic disease commonly affecting multiple organs and tissues, including the central nervous system, in particular during childhood.
In this context, the Metabolic diseases Expert Group (MEG) can bring referral expertise and support any decision making process related to the following major issues that require special attention: Overcoming of
• delay in diagnosis (average 7.5 years from the first symptom),
• limited availability of treatments applicable to only few diseases,
• design of clinical trials (CT) unable to generate reliable data,
• scarce quality of post marketing trials unable to evaluate the real efficacy of a drug,
• and paucity of reliable biomarkers for the evaluation of drug safety and efficacy independent from the clinical answer.
The understanding of the natural history of a disease is one of the key priorities of the MEG, aimed at facilitating the access of patients to clinical trials. Our MEG involves a variety of experts to ensure the establishment of a functional working group capable of providing the required evidence-based information to facilitate the inclusion of patients in clinical trials to assess novel treatments and also disease-specific natural history studies. The enlargement of the current working group and the possibility of getting key inputs and opinions from our entire MetabERN network involving currently 78 referral Health Care Providers in 23 EU countries will facilitate the provision of expert opinion about inclusion and exclusion criteria and updated knowledge for setting up specific studies design, standard of care, research studies, and definition of research goals. All diseases will be considered equally relevant for the research activities of the MEG.
