Zoledronic acid treatment for adults with congenital dyserythropoietic anemia

Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia: An Exploratory Study

This trial will try a single intravenous dose of zoledronic acid in adults with congenital dyserythropoietic anemia to see if it raises hemoglobin and reduces the need for blood transfusions.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 2 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Institute of Hematology & Blood Diseases Hospital, China (Academic / other)
• Locations: 1 site (Tianjin)
• Trial ID: NCT07471516 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Adults (≥18 years) with diagnosed CDA (including RBM28 mutation or characteristic marrow findings) who have hemoglobin <100 g/L or are transfusion-dependent, with ECOG 0–2 and adequate kidney function and calcium levels, are the intended participants.

Not a fit: Patients with significant renal impairment, abnormal serum calcium, known hypersensitivity to bisphosphonates, pregnancy, or non-CDA causes of anemia are unlikely to be eligible or to benefit.

Why it matters

Potential benefit: If successful, the treatment could increase hemoglobin and reduce transfusion frequency, lowering transfusion-related complications and iron overload.

How similar studies have performed: Use of zoledronic acid for CDA is novel—preclinical and animal data suggest potential benefit, but no established clinical success in CDA has been reported.

Eligibility criteria

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 this trial is running

Tianjin

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

Study contacts

• Study coordinator: Xin Zhao, MD

Conditions Congenital Dyserythropoietic Anemia; Zoledronic Acid