Congenital Dyserythropoietic Anemia (CDA)Phase 1/2NCT07471516
Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia
A Phase 1/2 study testing zoledronic acid in people with Congenital Dyserythropoietic Anemia (CDA), run by Institute of Hematology & Blood Diseases Hospital, China at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Congenital Dyserythropoietic Anemia (CDA)
- What is being tested?
- zoledronic acid
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteChina
- Study dates
- 25 Feb 2026to 12 Aug 2027
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Institute of Hematology & Blood Diseases Hospital
Tianjin
Xin Zhao, MD, 8613702041366, zhaoxin@ihcams.ac.cn
About this study
Official title: Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia: An Exploratory Study
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.
Read more
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.
- Being tested
- zoledronic acid
- Keywords
- Congenital Dyserythropoietic Anemia, Zoledronic Acid
- Medical subject headings
- Anemia, Dyserythropoietic, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
zoledronic acidDrug
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: zoledronic acid |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 12 weeks after the first dose
Secondary outcomes (4)
Change in Hemoglobin Level at 4 Weeks
Assessment of the increase in peripheral blood hemoglobin concentration from baseline to 4 weeks after the first dose
Measured: 4 weeks after the first dose
Change in Red Blood Cell Transfusion Interval
Comparison of the time interval between red blood cell transfusions before and after Zoledronic acid treatment
Measured: Up to 24 weeks
Change in Spleen Size
Assessment of the change in spleen size measured by ultrasound compared to baseline
Measured: Up to 24 weeks
Change in Quality of Life Assessed by the 36-Item Short Form Health Survey (SF-36)
Assessment of the change in patient quality of life compared to baseline. It is measured using the 36-Item Short Form Health Survey (SF-36). The score ranges from 0 to 100, where a higher score indicates a better quality of life.
Measured: Up to 24 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2026
- Study start25 Feb 2026
- Primary completion25 Feb 2027 (estimated)
- Study completion12 Aug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Dyserythropoietic Anemia (CDA)Studies of the same condition, open and under way.
- More trials run by Institute of Hematology & Blood Diseases Hospital, ChinaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07471516
- Sponsor's protocol ID
- IIT2025152
- Status last verified
- Mar 2026
- First submitted
- 3 Mar 2026
- Last updated
- 13 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Due to the extremely small sample size (1-2 cases) and the rare nature of the disease, individual participant data will not be shared to protect patient privacy and confidentiality.
Study at a glance
From the registry record, last updated by the sponsor on 13 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia: An Exploratory Study
- ClinicalTrials.gov ID
- NCT07471516
- Acronym / sponsor ID
- IIT2025152
- Keywords
- Congenital Dyserythropoietic Anemia, Zoledronic Acid
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 2 participants (estimated)
- Lead sponsor
- Institute of Hematology & Blood Diseases Hospital, ChinaUniversity, hospital or other
- Study start
- 25 Feb 2026 (actual)
- Primary completion
- 25 Feb 2027 (estimated)
- Study completion
- 12 Aug 2027 (estimated)
- First posted
- 13 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Zoledronic Acid | Experimental | Drug: zoledronic acidParticipants 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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).
Key exclusion criteria (7 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| zoledronic acidZoledronic 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. | Drug | Zoledronic Acid |
Primary outcome
Change in Hemoglobin Level From Baseline
Time frame: 12 weeks after the first dose
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.
4 secondary outcomes
Change in Hemoglobin Level at 4 Weeks
Time frame: 4 weeks after the first dose
Change in Red Blood Cell Transfusion Interval
Time frame: Up to 24 weeks
Change in Spleen Size
Time frame: Up to 24 weeks
Change in Quality of Life Assessed by the 36-Item Short Form Health Survey (SF-36)
Time frame: Up to 24 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Mar 2026.
- Individual participant dataSharing planned: No. Due to the extremely small sample size (1-2 cases) and the rare nature of the disease, individual participant data will not be shared to protect patient privacy and confidentiality.
Related trials for Congenital Dyserythropoietic Anemia (CDA)
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The Congenital Dyserythropoietic Anemia Registry (CDAR)
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Integrative Diagnosis for SCD and Other RADs
Sickle Cell Disease, Thalassaemia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing zoledronic acid in people with Congenital Dyserythropoietic Anemia (CDA), run by Institute of Hematology & Blood Diseases Hospital, China at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Xin Zhao, MD (8613702041366, zhaoxin@ihcams.ac.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Hemoglobin Level From Baseline (time frame: 12 weeks after the first dose). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Mar 2026.