Genetic causes of congenital sideroblastic anemia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Amiens University Hospital
  Amiens, France Recruiting

Study contacts

• Study coordinator: Ophélie Evrard, MD
• Email: evrard.ophelie@chu-amiens.fr
• Phone: 33+322835127

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.