Diamond-Blackfan anemia is a rare congenital pure red cell aplasia characterized by macrocytic anemia, reticulocytopenia, and reduced erythroid precursors in bone marrow. It often presents during infancy and may be associated with congenital abnormalities and inherited ribosomal gene defects. The disorder is considered a bone marrow failure syndrome with significant long-term management needs.
New treatments for rare pediatric neurological conditions show promise, with zorevunersen reducing seizures in Dravet syndrome patients and an SMA therapy under FDA review following stem cell research breakthroughs.
March of Dimes awarded the 2026 Richard B Johnston Jr, MD Prize to hematologist Leonard Zon for pioneering zebrafish research that illuminated blood development in embryos and led to breakthrough treatments for genetic blood disorders in children.
Disc Medicine received a complete response letter from the FDA for bitopertin as a treatment for erythropoietic protoporphyria. The FDA acknowledged the drug lowers PPIX levels but requires evidence from the ongoing Phase 3 APOLLO study before approval.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT04965597 |
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904) |
COMPLETED | PHASE2 |
| NCT03653338 |
T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias |
RECRUITING | PHASE1/PHASE2 |
| NCT03050268 |
Familial Investigations of Childhood Cancer Predisposition |
RECRUITING | |
| NCT02720679 |
Investigation of the Genetics of Hematologic Diseases |
RECRUITING | |
| NCT02512679 |
Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells |
TERMINATED | PHASE2 |
| NCT01966367 |
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation |
ACTIVE_NOT_RECRUITING | PHASE1/PHASE2 |
| NCT01917708 |
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases |
COMPLETED | PHASE1 |
| NCT01913548 |
Multi-Center Study of Iron Overload: Survey Study (MCSIO) |
COMPLETED | |
| NCT01586455 |
Human Placental-Derived Stem Cell Transplantation |
COMPLETED | PHASE1 |
| NCT01529827 |
Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies |
COMPLETED | PHASE2 |
