Játtað í:
2015

Granskingarøki:
Heilsa

Verkætlanarslag:
Verkætlan

Verkætlanarheiti:
Karnitintrot - kanning av árininum á hjarta og vøddar hjá sjúklingum við CTD.

Játtanarnummar:
0336

Verkætlanarleiðari:
Jan Rasmussen

Stovnur/virki:
Landssjúkrahúsið

Aðrir luttakarar:
Kasper Kyhl, Allan Lund, Morten Dunø, Niels Vejlstrup, Olav W. Nielsen, Lars Køber, Magni Mohr og Guðrið Andorsdóttir

Verkætlanarskeið:
01.07.2015-31.07.2016

Samlaður kostnaður:
490000

Stuðul úr Granskingargrunninum:
260000

Verkætlanarlýsing:
Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation. The frequency of the disorder in the Faroe Islands is by far the highest reported in the world, 1:300. In this study we want to investigate if PCD leads to an increased myocardial scarring/fibrosis compared to normal. All PCD patients in the Faroe Islands will be invited to have a cardiac magnetic resonance scan performed in order to uncover possible myocardial scarring/fibrosis. Gender and age matched controls will also be recruited in order to compare the frequency of possible myocardial scarring/fibrosis between patients and controls. We also want to investigate if carnitine level in muscle is low in all PCD genotypes in the Faroe Islands, even though the patients receive high dosage LEcarnitine supplementation. The study is performed in collaboration between the National Hospital in the Faroe Islands, the Faroese University, Rigshospitalet in Denmark and the Faroese Biobank.

Støða:
Virkin



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