RecruitingRare disease

Study of luspatercept for patients with rare inherited anemias to reduce transfusion needs and improve hemoglobin levels

Verified siteRegistered drugNo placebo

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

What is this trial about?

A plain-language summary of the goals, design and what participants do

This study is looking at rare types of inherited anemias, which are blood disorders passed down through families that cause a low number of red blood cells. The specific conditions being studied include constitutional sideroblastic anemia, which is a condition where the body cannot properly make red blood cells due to problems with iron use, congenital dyserythropoietic anemia, which is a disorder where red blood cells do not develop normally in the bone marrow, and Diamond-Blackfan anemia in patients who do not need regular blood transfusions. The treatment being tested is luspatercept, also known by the brand name Reblozyl, which is given as an injection under the skin.

The purpose of this study is to see if luspatercept can help improve the production of red blood cells in patients with these rare blood disorders. Specifically, the study wants to find out if the treatment can reduce the need for blood transfusions or increase the level of hemoglobin, which is the protein in red blood cells that carries oxygen throughout the body. The study will measure whether patients need fewer transfusions or have higher hemoglobin levels after receiving the treatment.

During the study, patients will receive luspatercept injections over a period of up to 52 weeks. The study will check how well the treatment works by looking at changes in transfusion needs and hemoglobin levels at different time points, including at 12 weeks, 24 weeks, and 48 weeks. Patients will have regular blood tests and pregnancy tests if applicable, and will be monitored for any effects of the treatment throughout the study period and for some time after treatment ends.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial screening and confirmation
Your eligibility for the study will be confirmed. This includes verification that you are at least 18 years old and have a diagnosis of one of the specific inherited blood conditions: constitutional sideroblastic anemia, congenital dyserythropoietic anemia (type I or II), or Diamond-Blackfan anemia that does not require regular blood transfusions.
Your diagnosis must be supported by genetic testing showing specific gene variants.
Blood tests will be performed to check your kidney and liver function. Your creatinine level must be less than 1.5 times the upper normal limit, and your liver enzymes must be less than 1.5 times the upper normal limit.
Your physical condition will be assessed using a performance status scale that measures your ability to carry out daily activities.
If you are a woman of childbearing potential, you will need to have two negative pregnancy tests before starting the treatment. If you are sexually active, you must agree to use highly effective birth control methods (such as hormonal contraception, intrauterine device, tubal ligation, or have a partner with a vasectomy) starting 5 weeks before treatment begins.
If you are a male participant, you must agree to use a condom during sexual contact with a pregnant woman or a woman of childbearing potential throughout the study.
Step 2
Baseline assessment period
During the 12 weeks before your first dose of the study medication, information about your blood transfusion history will be collected. This includes the number of blood transfusion units you received during this time.
If you do not require regular transfusions, your hemoglobin level (the protein in red blood cells that carries oxygen) will be measured at least twice, with measurements separated by at least 7 days. Your average hemoglobin must be below 10.5 grams per deciliter to participate.
Step 3
Treatment with luspatercept
You will receive luspatercept, the study medication, which will be given as an injection under the skin (subcutaneous injection).
The medication is available in two strengths: 25 milligrams and 75 milligrams powder that will be prepared as a solution for injection.
The specific dose, frequency, and duration of your treatment will be determined by the study protocol and your medical team based on your individual condition.
Step 4
First 12 weeks of treatment evaluation
During the first 12 weeks of treatment with luspatercept, your response to the medication will be closely monitored.
If you receive blood transfusions, the number of transfusion units you need will be tracked to see if there is a reduction of at least 33% compared to the baseline period, along with a decrease of at least 2 units during this 12-week period.
If you do not receive regular transfusions, your hemoglobin levels will be measured to determine if there is an increase of 1.0 gram per deciliter or more from your baseline level over a continuous 12-week period without needing blood transfusions.
If you are a woman of childbearing potential, you will have monthly pregnancy tests during this period.
Step 5
Weeks 13 through 24 evaluation
Your treatment with luspatercept will continue, and your response will be evaluated during weeks 13 through 24.
The number of blood transfusions you require will continue to be monitored to assess whether there is a sustained reduction in transfusion needs.
Your hemoglobin levels will continue to be measured regularly.
Monthly pregnancy tests will continue if you are a woman of childbearing potential.
Step 6
Weeks 37 through 48 evaluation
Treatment with luspatercept will continue, and another evaluation period will occur during weeks 37 through 48.
Your transfusion requirements will be assessed again to determine if the reduction in transfusion needs has been maintained over this longer period.
Changes in your hemoglobin levels from baseline will continue to be measured.
Monthly pregnancy tests will continue if you are a woman of childbearing potential.
Step 7
End of treatment and follow-up
After you stop taking luspatercept, you will need to continue using effective birth control methods for 12 weeks if you are a woman of childbearing potential.
If you are a male participant, you will need to continue using condoms during sexual contact for 12 weeks after stopping the medication.
Final assessments will be completed to evaluate your overall response to the treatment throughout the study period.

Who can join the trial?

15 criteria

You must be at least 18 years old at the time of first screening
You must have one of these rare inherited blood disorders (conditions passed down through families that affect red blood cells):
- Constitutional sideroblastic anemia (a condition where your body cannot properly use iron to make healthy red blood cells)
- Congenital dyserythropoietic anemia types I or II (a condition where your bone marrow does not make enough healthy red blood cells)
- Diamond-Blackfan anemia that does not require regular blood transfusions (a condition where your bone marrow cannot make enough red blood cells)
- Your disease must be confirmed by genetic testing showing specific changes in your genes that are known to cause your condition
- If you have constitutional sideroblastic anemia or congenital dyserythropoietic anemia, you may qualify if you either:
  - Need regular blood transfusions (receiving 6 to 20 units of red blood cells in the past 24 weeks, with no break longer than 56 days without transfusions), OR
  - Have significant anemia (low red blood cell count) with hemoglobin (the protein in red blood cells that carries oxygen) below 10.5 grams per deciliter, and receive 5 or fewer units of red blood cells per 24 weeks with at least 8 weeks without transfusion before joining the study
  - Your kidneys must work adequately, with creatinine (a waste product filtered by kidneys) less than 1.5 times the upper normal limit
  - Your liver must work adequately, with liver enzymes (proteins that help your liver function) less than 1.5 times the upper normal limit
  - You must have an ECOG performance status of 0 to 2, which measures how well you can perform daily activities (0 means fully active, 2 means able to care for yourself but unable to work)
  - You must be willing and able to provide written informed consent (formal agreement to participate) and follow all study procedures
  - If you are a woman who can become pregnant, you must:
    
    Have two negative pregnancy tests before starting the study medication
    Agree to monthly pregnancy testing during the study and after completion
    Use highly effective birth control methods without interruption for 5 weeks before starting the medication, during treatment, and for 12 weeks after stopping
    If you are a man, you must agree to use a condom during sexual contact with pregnant women or women who can become pregnant while in the study, during breaks in treatment, and for at least 12 weeks after stopping the study medication

Who cannot join the trial?

1 criterion

The study document does not provide specific exclusion criteria, which are the reasons why a patient cannot participate in this clinical trial. This information would need to be obtained from the complete study documentation.

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Assistance Publique Hopitaux De Paris
Verified
Paris, France
Centre Hospitalier Universitaire De Montpellier
Verified
Montpellier, France
Hopital Necker Enfants Malades
Verified
Paris, France

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

RecruitingNot yet recruiting

Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

Investigated drugs

Luspatercept is a medication being tested in this study to help patients with rare types of anemia (conditions where the body doesn't have enough healthy red blood cells). This medicine works by helping the body make more red blood cells. The goal is to see if it can reduce the need for blood transfusions or increase hemoglobin levels (the protein in blood that carries oxygen) in patients with these rare blood disorders.

Luspatercept

What is already known about the treatment

Luspatercept – Luspatercept is given as an injection under the skin and is used to treat certain rare inherited anemias, which are conditions where the body doesn't produce enough healthy red blood cells. This medication works at the molecular level by blocking specific proteins that normally slow down the maturation of red blood cells, allowing more mature red blood cells to be produced and released into the bloodstream. It belongs to a class of drugs called erythroid maturation agents, and its main goal is to reduce the need for blood transfusions or increase hemoglobin levels in patients with these rare blood disorders.

Investigated diseases

Congenital Sideroblastic Anemia
Congenital sideroblastic anemia is an inherited blood disorder where the bone marrow cannot properly use iron to make healthy red blood cells. This condition leads to a buildup of iron in the red blood cell precursors, forming characteristic ring-shaped patterns around the cell nucleus. People with this disease have fewer healthy red blood cells than normal, which results in anemia. The severity can vary widely between individuals, with some experiencing mild symptoms while others require regular blood transfusions. Common signs include fatigue, weakness, and pale skin due to insufficient oxygen delivery to body tissues. The condition is present from birth or early childhood and persists throughout life.
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia is a group of inherited blood disorders characterized by ineffective production of red blood cells in the bone marrow. The developing red blood cells show unusual structural abnormalities and many are destroyed before they can mature and enter the bloodstream. This results in chronic anemia with an insufficient number of functioning red blood cells. Patients may experience fatigue, weakness, pale appearance, and enlargement of the spleen and liver. The severity varies depending on the specific type, with some individuals requiring frequent blood transfusions while others have milder symptoms. This condition is present from birth and continues throughout a person's lifetime.
Non-Transfusion Dependent Beta-Thalassemia
Non-transfusion dependent beta-thalassemia is an inherited blood disorder affecting the production of hemoglobin, the protein in red blood cells that carries oxygen. The body produces reduced amounts of beta-globin chains, which are essential components of normal hemoglobin. This leads to chronic anemia of varying severity, but not severe enough to require regular blood transfusions. Patients may experience fatigue, weakness, pale skin, and enlarged spleen. Over time, the body attempts to compensate by expanding bone marrow production sites, which can lead to bone changes and other complications. The condition is present from early childhood and persists throughout life.
Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a rare inherited disorder where the bone marrow fails to produce enough red blood cells. The bone marrow shows a specific deficiency in red blood cell precursors while other blood cell types are usually normal. This condition typically appears during infancy or early childhood, causing severe anemia. Affected individuals may have physical abnormalities such as distinctive facial features, thumb abnormalities, or short stature, though these are not present in all cases. The anemia causes symptoms including extreme fatigue, pale skin, and poor growth in children. The severity varies, with some patients becoming dependent on regular blood transfusions while others may respond to other supportive measures.