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Article

Trial Readiness: Understanding the Natural History of Rare Diseases.

Journal of inherited metabolic disease - 1 Nov 2025

Opladen Thomas, Mütze Ulrike, Gleich Florian, Garbade Sven F, Kuseyri Hübschmann Oya, Zielonka Matthias, Kölker Stefan

Abstract excerpt

Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease-changing treatment for a variety of IMDs. For the development of clinical trials specifically for IMDs and...

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Topics

Humans
Rare Diseases
Clinical Trials as Topic
Registries
Metabolic Diseases
Quality of Life

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Identifiers

PMID: 41131715
DOI: 10.1002/jimd.70102
PMCID: PMC12550222

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