Genetic causes of congenital sideroblastic anemia
Genomic of CONgenital Sideroblastic Anemias
This project will test whether detailed genomic analysis of blood samples can identify genetic causes of congenital sideroblastic anemia in people not explained by routine gene panels.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire, Amiens Academic / other |
| Locations | 1 site (Amiens) |
| Trial ID | NCT07459816 on ClinicalTrials.gov |
What this trial studies
This protocol collects blood samples for genomic analysis from people with unexplained congenital sideroblastic anemia or from those already found by exome sequencing to carry bi‑allelic variants in candidate mitochondrial respiratory genes. The focus is on genes involved in mitochondrial function and erythropoiesis to better characterize molecular causes of ring sideroblast formation and mitochondrial iron overload. Enrollment includes retrospectively identified patients and those identified prospectively over the next 12 months. The only intervention is a blood redraw for sequencing and related laboratory studies; no therapeutic intervention is provided.
Who should consider this trial
Good fit: Ideal candidates are people with congenital sideroblastic anemia unexplained by routine gene panels or those found by exome sequencing to carry bi‑allelic variants in candidate mitochondrial respiratory pathway genes.
Not a fit: Patients whose genetic cause is already identified by routine testing or who cannot travel to Amiens or provide a blood sample are unlikely to benefit directly from participation.
Why it matters
Potential benefit: If successful, the work could identify new genetic causes, improving diagnosis, genetic counseling, and informing future targeted management or research.
How similar studies have performed: Prior next‑generation sequencing efforts have identified several genes linked to congenital sideroblastic anemia, so the genomic approach has precedent though many cases remain genetically unresolved.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with unexplained congenital sideroblastic anemia on the molecular side with the gene panels used routinely * Patients already identified by exome sequencing approach carrying bi-allelic variants of candidate genes of the mitochondrial respiratory pathway. * Patients meeting the same criteria who will be identified prospectively over the next 12 months Exclusion Criteria: * NA
Where this trial is running
Amiens
- Amiens University Hospital — Amiens, France (Recruiting)
Study contacts
- Study coordinator: Ophélie Evrard, MD
- Email: evrard.ophelie@chu-amiens.fr
- Phone: 33+322835127
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.