EIMD - European registry and network for Intoxication type Metabolic Disorders: About EIMD
Time 2020-10-11 02:03:00Web Name: EIMD - European registry and network for Intoxication type Metabolic Disorders: About EIMD
WebSite: http://www.eimd-registry.org
ID:77663
Keywords:
and,network,registry,Description:
EIMD - European registry and network for Intoxication type Metabolic Disorders: About EIMDThis patient registry arises from the project E-IMDwhich has received fundingfrom the European Union,in the framework of theHealth Programme 2008-2013The E-IMD registry has been sustained after the end of the EU funding period by funding from the Kindness for Kids Foundation Major aims of the study:To describe the natural history and outcome of organic acidurias and urea cycle defectsAcute metabolic crisisLong-term organ-specific complications: e.g. brain, liver, kidneys, skeletal muscle, heart muscle, pancreasSurvival rateGenotype/phenotype correlationVariability of the disease courseGender effectsTo describe and evaluate the efficacy and safety of current treatment strategiesTo compare the diagnosis, treatment and management of affected individuals in EuropeTo identify the major impact of a rare inherited disease for patients and their families on quality of life Patients with any of the following diseases could be included: A. Organic aciduriasMethylmalonic aciduria (MMA)Propionic aciduria (PA)Isovaleric aciduria (IVA)Glutaric aciduria type 1 (GA1)B. Urea cycle defectsN-Acetylglutamate synthase (NAGS) deficiency Carbamylphosphate synthetase 1 (CPS1) deficiency Ornithine transcarbamylase (OTC) deficiency Citrullinemia type 1 / Argininosuccinate synthetase (ASS) deficiency Argininosuccinate lyase (ASL) deficiency Arginase 1 (ARG1) deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome / mitochondrial ornithine transporter 1 (ORNT1) deficiencyVisits: Baseline visit: once at the beginningRegular visits: at least once yearlyEmergency (or other unscheduled) visits: unscheduled<<< Thank you for your visit >>>
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