Understanding Genetic Causes of Congenital Hemolytic Anemias
Official title: Congenital Hemolytic and Dyserythropoietic Anemias
Run by Children's Hospital Medical Center, Cincinnati · NCT07649213 · Data updated 2026-11-12
Researchers are testing if certain genetic mutations cause non-immune hemolytic anemia in patients with inherited blood disorders.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 400 (estimated) |
| Sponsor | Children's Hospital Medical Center, Cincinnati Academic / other |
| Locations | 1 site (Cincinnati, Ohio) |
| Status | Recruiting |
| Started | July 25, 2011 |
| Main results expected | July 2050 |
| Study ends | July 2052 |
| Registry record updated | June 17, 2026 |
| Trial ID | NCT07649213 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal participants are individuals with hereditary non-immune hemolytic anemia where the genetic cause is unclear, plus parents or grandparents who may serve as controls.
✕Probably not a fit
Patients with non-genetic or clearly acquired anemias are unlikely to benefit from this genetic-diagnostic study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study seeks to improve genetic diagnosis and understanding of why red blood cells are formed abnormally or have altered metabolism, leading to easier destruction in circulation or in the spleen. It analyzes known and suspected genes involved in red blood cell production and survival, including G6PD, enzyme defects, membrane skeleton disorders, and congenital dyserythropoietic anemia. The study also examines the relevance of UGT1A1 sequencing due to risk of gallstones in Gilbert syndrome. No experimental treatment is given; the focus is on diagnostic clarification and pathophysiology.
Why it matters
Potential benefit: If successful, the study could improve genetic diagnosis and inform more accurate counseling and potential future treatment options for rare non-immune congenital hemolytic anemias.
How similar studies have gone: Previous studies have shown that targeted genetic analysis can uncover causative mutations in congenital hemolytic anemias, supporting the study's approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Patients who have been diagnosed, by medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, with a hereditary hemolytic anemia, where the genetic etiology is challenging to be identified. 2. Parents and/or grandparents of children that have the above diagnosis. The parents and/or grandparents may or may not have non-immune hemolytic anemia (these will serve as positive or negative inherent controls) Exclusion: 1\) Patients with anemias known to be acquired and not associated with a genetic etiology.
Where it's running
-
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States Recruiting
Study contacts
- Study coordinator: Amy Shova
- Email: amy.shova@cchmc.org
- Phone: 513-803-1917
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
F182112 in relapsed/refractory autoimmune hemolytic anemia
A small early study tests F182112 as a single treatment for adults with AIHA that has not responded to other therapies, to see if it’s safe and what dose works best.
-
Brain network changes in adults with anemia measured by fNIRS
This project will use functional near-infrared spectroscopy (fNIRS) to see if brain network connections are altered in adults aged 18–65 who have anemia.
-
UCAR-T cells targeting CD19 and BCMA for autoimmune blood disorders
This treatment tests an off-the-shelf UCAR-T cell therapy that targets CD19 and BCMA to try to treat adults with antibody-driven blood disorders like ITP, autoimmune hemolytic anemia, and Evans syndrome.
-
CM336 treatment for relapsed or refractory autoimmune cytopenia
This trial will test whether CM336, a BCMA/CD3 bispecific antibody given by injection, can help adults with relapsed or refractory autoimmune cytopenias such as ITP, AIHA, or Evans syndrome.
-
Evaluating brain function and psychological effects of cell therapy in autoimmune hemolytic anemia
This study is testing how CAR T-cell therapy affects thinking and mental health in people with autoimmune hemolytic anemia to help improve their treatment and quality of life.
-
Safety evaluation of CC312 in patients with autoimmune diseases
This study is testing a new treatment called CC312 to see if it's safe and tolerable for adults with autoimmune diseases like lupus and rheumatoid arthritis.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.