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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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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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
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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