Rare disease study pulled before starting: scientists sought clues in cell stress

NCT ID NCT05514470

Terminated Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study was planned to learn how certain rare genetic mutations disrupt protein production and cause severe diseases affecting the lungs, liver, brain, and digestion. Researchers would have used cells from patients to measure protein levels and stress responses. However, the study was withdrawn before enrolling any participants, so no results are available.

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Conditions

The condition(s) this trial relates to.

infantile liver failure syndrome 1 liver disorder Neurologic Manifestations neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 pancreas disorder Rajab interstitial lung disease with brain calcifications 2 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

INFANTILE LIVER FAILURE SYNDROME 1 INTERSTITIAL LUNG AND LIVER DISEASE NEUROLOGIC, ENDOCRINE AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2

Contacts and locations

Locations

Hôpital Necker-Enfants Malades

Paris, 75015, France