Understanding cellular stress responses in BPAN patients
Protection Response to Cellular Stress in BPAN's Patient Study
This study looks at how changes in a specific gene affect cell stress responses in people with BPAN to better understand the condition and find new treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 2 sites (Bron and 1 other locations) |
| Trial ID | NCT05954494 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with beta-propeller associated neurodegeneration (BPAN) who carry pathogenic variants of the WDR45 gene. It aims to investigate how mutations in WDR45 affect cellular stress responses and contribute to neurodegeneration. The study will analyze lymphoblastic cells from participants to assess autophagic activity and its implications for neuronal health. By understanding these mechanisms, researchers hope to gain insights into the pathology of BPAN and potential therapeutic targets.
Who should consider this trial
Good fit: Ideal candidates include children and adults with a confirmed pathogenic variant of the WDR45 gene and a weight of at least 12.5 kg.
Not a fit: Patients without a WDR45 pathogenic variant or those who do not meet the weight criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of BPAN, potentially informing future therapeutic strategies.
How similar studies have performed: While there is limited data on similar studies specifically targeting BPAN, the investigation of autophagy in neurodegenerative conditions has shown promise in other contexts.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bron and 1 other locations
- Groupement hospitalier est — Bron, France (Recruiting)
- Service de génétique - Laboratoire de Biologie Médicale Multi-Site (LBMMS) Groupement Hospitalier Est - Hospices Civils de Lyon — Bron, France (Not_yet_recruiting)
Study contacts
- Study coordinator: LESCA Gaëtan, Pr
- Email: gaetan.lesca@chu-lyon.fr
- Phone: (+33)472129639
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.