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Study of the Selective GlyT1 Inhibitor Bitopertin for Steroid-Refractory Diamond-Blackfan Anemia

NCT05828108 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 15

Last updated 2026-02-17

No results posted yet for this study

Summary

Background:

Diamond-Blackfan anemia (DBA) is an inherited disease that affects the bone marrow. People with DBA have chronic anemia that can be severe. Many must have frequent transfusions of red blood cells. Current treatments for DBA all have risks of serious side effects. Better treatments are needed.

Objective:

To test a new drug (bitopertin) in people with DBA.

Eligibility:

People aged 18 or older with DBA.

Design:

Participants will be screened. They will have a physical exam; they will have blood tests and a test of their heart function. They will have a bone marrow biopsy: An area of their hip will be numbed, and a needle will be inserted to remove a sample of tissue from inside the bone.

Bitopertin is a pill taken by mouth. Participants will take the drug once a day every day for 8 months. They will start with a low dose of the drug; the dosage may increase gradually over time. They will keep a diary to record each dose.

Participants will have blood tests every 4 weeks. This may be done in the clinic. Participants may also have telehealth visits; they can have blood drawn at a local lab and sent to the researchers.

The bone marrow biopsy and other tests will be repeated after 8 months.

Participants who have a positive response to bitopertin will be invited to enter an extended phase of the trial. They may continue to take the drug for 3 more years.

Those who choose not to continue in the extended phase may have a follow-up visit 6 months after they stop taking the drug.

Conditions

  • Steroid-refractory Diamond-Blackfan Anemia (DBA)

Interventions

DRUG

Bitopertin

Dose Escalation: Monthly (every 4 weeks) up to a maximum dose of 60 mg bitopertin (5 mg, 10mg, 20mg, 40mg, 60mg). At each monthly (4 week) interval, a complete blood count (CBC) with differential and a reticulocyte analysis (including reticulocyte hemoglobin) will be collected prior to taking the higher dose. If the absolute reticulocyte count (ARC) is 60,000 /microL or higher, the subject will hold at the current dose level (or return to that level if escalation has already occurred) for an additional 4 weeks. If, after 8 weeks at that dose, response criteria are met this will be considered the minimum effective dose (MED) and shall be the treatment dose throughout the remainder of the study unless modifications are indicated.

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    lead NIH

Principal Investigators

  • David J Young, M.D. · National Heart, Lung, and Blood Institute (NHLBI)

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-07-25
Primary Completion
2025-08-28
Completion
2025-08-28
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Drugs

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05828108 on ClinicalTrials.gov