Diamond-Blackfan Anemia (DBA) Clinical Trials and Treatments

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by selective hypoplasia of erythroid progenitor cells, resulting in moderate to severe anemia with macrocytosis. The condition is caused by mutations in genes encoding ribosomal proteins (particularly RPS19 in 25% of cases) and other ribosomal biogenesis factors (RPL5, RPL11, RPS7, others), disrupting ribosome assembly, protein synthesis, and innate immune responses. Pathophysiology involves impaired erythroid differentiation with relative sparing of myeloid and megakaryocytic lineages.

The most common symptoms of Diamond-Blackfan Anemia include Severe anemia presenting by age 1 year, Fatigue, dyspnea, and pallor, Physical abnormalities in 50% (thumb defects, short stature), Macrocytic anemia, Absent or severely reduced reticulocyte response, among others. Diamond-Blackfan Anemia affects approximately 1 in 200,000 to 500,000 people; ~25% have family history. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Diamond-Blackfan Anemia from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Corticosteroids (prednisolone) induce remission in approximately 50% of patients, with others responding to lenalidomide, danazol, or other immunomodulatory agents. Red blood cell transfusions manage anemia-related symptoms in steroid-refractory cases, with iron chelation required to prevent secondary hemochromatosis.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Diamond-Blackfan Anemia. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Diamond-Blackfan Anemia is caused by variants in any of many genes, most often RPS19, RPL5, RPL11, RPS26, RPL35A and RPS24. About 25% of cases are RPS19 variants and a further 25 to 35% involve other ribosomal protein genes; roughly 55% are de novo. GATA1 and TSR2 are rare X-linked causes.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 200,000 to 500,000 people; ~25% have family history. A multigene panel identifies the cause in most families.

Yes. Diamond-Blackfan Anemia can be caused by variants in many different genes (RPS19, RPL5, RPL11, RPS26, RPL35A and RPS24 are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. About 25% of cases are RPS19 variants and a further 25 to 35% involve other ribosomal protein genes; roughly 55% are de novo. GATA1 and TSR2 are rare X-linked causes.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Diamond-Blackfan Anemia clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Diamond-Blackfan Anemia clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.