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Why do some kids have an enlarged spleen? new study investigates

NCT ID NCT04845958

Completed Knowledge-focused Sponsor: Sanofi Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden conditions might be behind this symptom.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this study could help doctors better understand which rare diseases to test for in children with unexplained enlarged spleen.

What could go wrong

This is a small, completed observational study with only 60 children, so results may not apply to all populations. It does not test any treatment.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

acid sphingomyelinase deficiency 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 GAUCHER DISEASE, SPLENOMEGALY

Contacts and locations

Locations

  • Investigational Site Number 2500001

    Lyon, 69008, France

  • Investigational Site Number 2500002

    Montpellier, 34090, France

  • Investigational Site Number 2500003

    Bordeaux, 33000, France

  • Investigational Site Number 2500004

    Strasbourg, 67200, France

  • Investigational Site Number 2500005

    Marseille, 13005, France

  • Investigational Site Number 2500006

    Dijon, 21079, France

  • Investigational Site Number 2500007

    La Tronche, 38700, France

  • Investigational Site Number 2500008

    Colombes, 92700, France

  • Investigational Site Number 2500009

    Clermont-Ferrand, 63000, France

  • Investigational Site Number 2500010

    Gleizé, 69400, France

  • Investigational Site Number 2500011

    Poitiers, 86000, France

  • Investigational Site Number 2500012

    Vandœuvre-lès-Nancy, 54500, France

  • Investigational Site Number 2500013

    Perpignan, 66000, France

  • Investigational Site Number 2500014

    Angers, 49933, France

  • Investigational Site Number 2500015

    Besançon, 25030, France

  • Investigational Site Number 2500016

    Paris, 75012, France

  • Investigational Site Number 2500017

    Saint-Priest-en-Jarez, 42270, France

  • Investigational Site Number 2500018

    Chambéry, 73000, France

  • Investigational Site Number 2500019

    Nice, 06200, France

  • Investigational Site Number 2500020

    Tours, France

  • Investigational Site Number 2500021

    Nantes, 44000, France

  • Investigational Site Number 2500022

    Nîmes, 30029, France

  • Investigational Site Number 2500023

    Rennes, 35203, France

  • Investigational Site Number 2500024

    Rouen, 76031, France

  • Investigational Site Number 2500025

    Valenciennes, 59300, France

  • Investigational Site Number 2500026

    Caen, 14033, France

  • Investigational Site Number 2500027

    Meaux, 77100, France

  • Investigational Site Number 2500028

    Créteil, 94000, France

  • Investigational Site Number 2500029

    Reims, 51100, France

  • Investigational Site Number 2500030

    Limoges, 87042, France

  • Investigational Site Number 2500031

    Jossigny, 77600, France

  • Investigational Site Number 2500032

    Mantes-la-Jolie, 78200, France

  • Investigational Site Number 2500033

    Toulouse, France

  • Investigational Site Number 2500034

    Argenteuil, 95107, France

  • Investigational Site Number 2500035

    Poissy, 78300, France

  • Investigational Site Number 2500036

    Amiens, 80054, France

  • Investigational Site Number 2500037

    Roubaix, 59056, France

  • Investigational Site Number 2500038

    Brest, 29609, France

  • Investigational Site Number 2500039

    Bayonne, 64100, France

  • Investigational Site Number 2500040

    La Rochelle, 17000, France