Blood test aims to solve mystery of unexplained enlarged spleens
NCT ID NCT05641103
Summary
This study aimed to find better ways to diagnose two rare genetic diseases, Gaucher disease and ASMD, in people with an enlarged spleen of unknown cause. Researchers enrolled 122 adult patients who had an unexplained enlarged spleen or had their spleen removed without a clear diagnosis. They tested a simple blood sample to measure enzyme levels and look for these specific diseases, hoping to provide answers where standard tests had failed.
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Contacts and locations
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Locations
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CAU Salamanca
Salamanca, Salamanca, Spain
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Complejo Hospitalario Universitario La Coruña - CHUAC
A Coruña, La Coruña, Spain
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Complejo Hospitalario Universitario de Santiago - CHUS
Santiago de Compostela, La Coruña, Spain
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Hospital General Universitario de Alicante
Alicante, Alicante, Spain
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Hospital Universitario Central de Asturias - HUCA
Oviedo, Principality of Asturias, Spain
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Hospital Universitario Joan XXIII
Tarragona, Tarragona, Spain
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Hospital Universitario Juan Ramón Jiménez
Huelva, Huelva, Spain
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Hospital Universitario La Princesa
Madrid, Madrid, Spain
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Hospital Universitario Lucus Augusti
Lugo, Lugo, Spain
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Hospital Universitario de Badajoz
Badajoz, Badajoz, Spain
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Hospital Universitario de Cabueñes
Gijón, Principality of Asturias, Spain
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Hospital Universitario de Galdácano
Galdakao, Vizcaya, Spain
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Hospital Vall d'Hebron
Barcelona, Barcelona, Spain
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Hospital de Poniente
El Ejido, Almería, Spain
Conditions
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