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BPAN cell stress study completed: no treatment tested

NCT ID NCT05954494

Knowledge-focused Sponsor: Hospices Civils de Lyon Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

Summary

This study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the disease.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

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

Participants

21 people

The number who actually took part.

Started

Oct 2023

Finished

Oct 2025

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.

Who is studied

Community sample of patients, organized with patient's associations and major reference centers. As this is a rare genetic disorder with no treatment, we conduct this research at the request of the above-mentioned patient associations. At present, about twenty patients are followed for this pathology in France and 2 to 3 patients are diagnosed on average each year. Assuming a refusal rate of 5% (knowing that this study is based on the wishes of the patients' families), we plan to include a total of 20 patients.

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: * Weight ≥ 12.5kg * Presence of WDR45 pathogenic variant gene * Children or adults (no upper limit for age) * Patient under guardianship could be included if they are assisted by their guardian/adviser in compliance with article L1122-2 of the Public Health Code by virtue of the protection of vulnerable populations Exclusion Criteria: \- According to the order of 12/04/2018 of the Public Health Code : Weight ≤ 12.5 kg for a 10mL sample or For 2 male and 2 female Lyon patients : Weight ≤ 25 kg for a 20mL sample * No French Social Insurance Regimen * Refusal of participation by the legal representative of the patient

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Conditions

The condition(s) this trial relates to.

neurodegeneration with brain iron accumulation 5

As listed by the trial registrant

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

Children and adults with bpan carrying pathogenic variants of WDR45

Contacts and locations

Locations

  • Groupement hospitalier est

    Bron, Bron, 69500, France

  • Service de génétique - Laboratoire de Biologie Médicale Multi-Site (LBMMS) Groupement Hospitalier Est - Hospices Civils de Lyon

    Bron, Bron, 69500, France