New diagnostic strategy aims to end diagnostic odyssey for rare diseases
NCT ID NCT03163771
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four hospitals in France to see if this method could reduce the long delays often faced by these patients.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens
Amiens, 80054, France
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Hôpital Jeanne de Flandres, CHRU
Lille, France
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Pédiatrie, CHU Clémenceau de Caen
Caen, 40433, France
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Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen
Rouen, 76031, France
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