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Blood test uncovers rare diseases in patients with mysterious enlarged spleen

NCT ID NCT05641103

Completed Knowledge-focused Sponsor: Fundación Española de Hematología y Hemoterapía Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity and genetic markers. The goal was to see how often these diseases are missed in this group, helping doctors diagnose them earlier.

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Conditions

The condition(s) this trial relates to.

acid sphingomyelinase deficiency anterior segment dysgenesis 1 Gaucher disease Niemann-Pick disease Splenomegaly

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ACID SPHINGOMYELINASE DEFICIENCY ASMD GAUCHER DISEASE NIEMANN-PICK DISEASES SPLENOMEGALY

Contacts and locations

Locations

  • CAU Salamanca

    Salamanca, Salamanca, Spain

  • Complejo Hospitalario Universitario La Coruña - CHUAC

    A Coruña, La Coruña, Spain

  • Complejo Hospitalario Universitario de Santiago - CHUS

    Santiago de Compostela, La Coruña, Spain

  • Hospital General Universitario de Alicante

    Alicante, Alicante, Spain

  • Hospital Universitario Central de Asturias - HUCA

    Oviedo, Principality of Asturias, Spain

  • Hospital Universitario Joan XXIII

    Tarragona, Tarragona, Spain

  • Hospital Universitario Juan Ramón Jiménez

    Huelva, Huelva, Spain

  • Hospital Universitario La Princesa

    Madrid, Madrid, Spain

  • Hospital Universitario Lucus Augusti

    Lugo, Lugo, Spain

  • Hospital Universitario de Badajoz

    Badajoz, Badajoz, Spain

  • Hospital Universitario de Cabueñes

    Gijón, Principality of Asturias, Spain

  • Hospital Universitario de Galdácano

    Galdakao, Vizcaya, Spain

  • Hospital Vall d'Hebron

    Barcelona, Barcelona, Spain

  • Hospital de Poniente

    El Ejido, Almería, Spain

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