Zoledronic acid treatment for adults with congenital dyserythropoietic 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 is a prospective, single-center, single-arm Phase 1/2 study enrolling adults with congenital dyserythropoietic anemia (CDA) who have limited treatment options. Participants receive an initial 4 mg intravenous dose of zoledronic acid with close safety monitoring, including an initial 4-week observation period. Hemoglobin levels, transfusion requirements, renal function, calcium, and adverse events will be followed over scheduled visits to track response and safety. The primary goals are to determine tolerability and whether zoledronic acid produces meaningful hematologic improvement.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age ≥ 18 years, regardless of gender.
* Diagnosis of Congenital Dyserythropoietic Anemia (CDA) based on clinical presentation, laboratory tests, and family investigation, with the presence of RBM28 mutation and/or increased vacuolization within nucleated red blood cells under light microscopy of bone marrow.
* Presence of anemia (Hemoglobin \< 100 g/L at screening) or transfusion dependence (defined as an average transfusion interval of \< 8 weeks within the past 3 months).
* Performance status is acceptable (ECOG score 0-2).
* Normal renal function (estimated glomerular filtration rate, eGFR ≥ 60 mL/min/1.73m²).
* Serum calcium levels within the normal range.
* Female patients of childbearing potential must have a negative pregnancy test before enrollment and agree to use effective contraception during the study and for 3 months after completion.
* The patient and/or guardian voluntarily sign the informed consent form.

Exclusion Criteria:

* Known hypersensitivity to bisphosphonates or any of their excipients.
* Severe periodontal disease or a recent history (within 6 months) of osteonecrosis of the jaw.
* Hypocalcemia.
* Pregnant or lactating women.
* Currently receiving other experimental drug treatments that may affect erythropoiesis (e.g., Luspatercept).
* Active, uncontrolled systemic infection.
* Severe cardiac, pulmonary, or hepatic dysfunction, as judged by the investigator to be unsuitable for participation in the study

Where it's running

• Institute of Hematology & Blood Diseases Hospital
  Tianjin, China Recruiting

Study contacts

• Study coordinator: Xin Zhao, MD
• Email: zhaoxin@ihcams.ac.cn
• Phone: 8613702041366

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Integrated diagnosis for sickle cell disease and other rare anemias

  This project tests whether combining genetic testing, LoRRca ektacytometry, and microfluidic analysis can improve diagnosis and predict disease course for people with sickle cell disease and other inherited anemias.

  Recruiting at 4 sites Hospital Universitari Vall d'Hebron Research Institute · Barcelona and 3 other locations · NCT07206095

• Registry for patients with Congenital Dyserythropoietic Anemia

  This study is collecting information from people with Congenital Dyserythropoietic Anemia to help researchers learn more about the condition and improve care for those affected.

  Recruiting Children's Hospital Medical Center, Cincinnati · Cincinnati, Ohio · NCT02964494

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.