Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia

NCT07471516 | Recruiting Phase 1

• 1 other identifier: IIT2025152
• Study Type: interventional
• Target: 2
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Congenital Dyserythropoietic Anemia (CDA) is a group of rare hereditary blood disorders characterized by ineffective erythropoiesis, leading to chronic anemia and organ damage. Current treatment options are very limited, mainly relying on regular blood transfusions, which can cause severe complications over time. Our laboratory research and animal models suggest that Zoledronic acid, a medication commonly used for bone health, may improve ineffective erythropoiesis. Purpose: The purpose of this exploratory study is to evaluate the efficacy and safety of Zoledronic acid in adult patients with CDA who do not have other effective treatment options. The primary goal is to see if this treatment can increase hemoglobin levels and reduce the need for blood transfusions. Study Design: This is a prospective, single-center, single-arm study. Participants will receive an initial intravenous dose (4 mg) of Zoledronic acid. After a 4-week observation period to ensure safety, participants will receive additional doses every 4 weeks for a total of 4 doses. Researchers will monitor hemoglobin levels, transfusion frequency, spleen size, and overall quality of life over a period of 12 to 24 weeks.

Conditions

Congenital Dyserythropoietic Anemia (CDA)

Keywords

Congenital Dyserythropoietic Anemia; Zoledronic Acid

Outcome Measures

Primary Outcomes (1)

• Change in Hemoglobin Level From Baseline

  The primary endpoint is the hematologic response achieved by participants at 12 weeks after the first dose of Zoledronic acid. Response includes: 1) Complete Response (CR): Hemoglobin ≥ 120 g/L; 2) Partial Response (PR): Not meeting CR criteria, but achieving independence from red blood cell transfusions OR an increase in HGB of ≥ 20 g/L from baseline.

  12 weeks after the first dose

Secondary Outcomes (4)

• Change in Hemoglobin Level at 4 Weeks

  4 weeks after the first dose

• Change in Red Blood Cell Transfusion Interval

  Up to 24 weeks

• Change in Spleen Size

  Up to 24 weeks

• Change in Quality of Life Assessed by the 36-Item Short Form Health Survey (SF-36)

  Up to 24 weeks

Study Arms (1)

Zoledronic Acid

EXPERIMENTAL

Participants in this arm will receive a total of 4 doses of Zoledronic acid. Following the first dose, there is a 4-week safety observation period before proceeding with subsequent doses every 4 weeks. The total follow-up period for efficacy and safety assessment is 24 weeks.

Drug: zoledronic acid

Interventions

zoledronic acid DRUG

Zoledronic acid will be administered at a dose of 4 mg via a standardized intravenous (IV) infusion lasting no less than 15 minutes. To ensure safety, the initial dose is followed by a 4-week rigorous observation period. If the treatment is well-tolerated without significant adverse events, subsequent doses will be given every 28 days for a total of 4 cycles. Patients will be closely monitored for serum calcium levels and renal function (eGFR) throughout the intervention period to mitigate potential risks associated with bisphosphonate therapy.

Zoledronic Acid

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Institute of Hematology & Blood Diseases Hospital, China: lead

Study Sites (1)

Institute of Hematology & Blood Diseases Hospital

Tianjin, China

RECRUITING

MeSH Terms

Conditions

Anemia, Dyserythropoietic, Congenital

Interventions

Zoledronic Acid

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Diphosphonates; Organophosphonates; Organophosphorus Compounds; Organic Chemicals; Imidazoles; Azoles; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds

Central Study Contacts

Xin Zhao, MD

CONTACT

8613702041366; zhaoxin@ihcams.ac.cn

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 3, 2026
• First Posted: March 13, 2026
• Study Start: February 25, 2026
• Primary Completion (Estimated): February 25, 2027
• Study Completion (Estimated): August 12, 2027
• Last Updated: March 13, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)