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

NCT ID NCT05514470

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 However, the study was withdrawn before enrolling any participants, so no results are available.

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Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Expected to start

Nov 2024

An estimate. Start dates often move.

Expected to finish

Nov 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Patients carrying mutations in genes encoding cytosolic aminoacyl-tRNA synthetases responsible for a multi-systemic phenotype * Information and consent of the patient if an adult and of the holders of parental authority if a minor patient and of the minor patient Exclusion Criteria: \- Non-consent of one of the holders of parental authority or of the minor patient or of adult patient Contrôl patients : * Fibroblasts from control patients without mutation in genes encoding cytosolic aminoacyl-tRNA synthetases, from an existing biological collection. The control patients will be selected according to the age at which the skin biopsy was performed in order to have an age match between the patients and the controls. * Information and consent of the patient if an adult and of the holders of parental authority if a minor patient and of the minor patient

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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