New diagnostic strategy aims to end diagnostic odyssey for rare diseases
NCT ID NCT03163771
First seen Jan 09, 2026 · Last updated May 21, 2026 · Updated 20 times
Summary
This study tested a new approach to diagnose peroxisomal diseases, a group of rare genetic disorders. The strategy combines advanced metabolic and genetic testing in patients with suspected symptoms. Researchers aimed to reduce the time and confusion often involved in getting a correct diagnosis. The study included 8 participants from four hospitals in France.
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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.
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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Contacts and locations
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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
Conditions
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