Ongoing Clinical Trials for Beta-Thalassemia
There are currently 5 ongoing clinical trials for beta-thalassemia, testing innovative treatments including gene therapies using CRISPR-Cas9 technology, gene-modified stem cells, and new medications designed to improve symptoms and reduce the need for regular blood transfusions. These trials are taking place across several European countries including Germany, Italy, Greece, France, Denmark, and the Netherlands.
Clinical trial locations
- Denmark
- France
- Germany
- Long-Term Safety and Efficacy Study of Betibeglogene Autotemcel Gene Therapy for Patients with Transfusion-Dependent Beta-Thalassemia
- Study on the Effects of Exagamglogene Autotemcel for Patients with Transfusion-Dependent Beta-Thalassemia or Severe Sickle Cell Disease
- Study on the Safety and Effectiveness of CRISPR-Cas9 Modified Stem Cells for Patients with Transfusion-Dependent Beta-Thalassemia Using Exagamglogene Autotemcel
- Greece
- Italy
- Long-Term Safety and Efficacy Study of Betibeglogene Autotemcel Gene Therapy for Patients with Transfusion-Dependent Beta-Thalassemia
- Study of SP-420 for Patients with Transfusion-Dependent Alpha or Beta Thalassemia
- Study on the Effects of Exagamglogene Autotemcel for Patients with Transfusion-Dependent Beta-Thalassemia or Severe Sickle Cell Disease
- Netherlands
Study of SP-420 for Patients with Transfusion-Dependent Alpha or Beta Thalassemia
This trial is testing SP-420, an oral medication taken as capsules, for patients with transfusion-dependent thalassemia. The study aims to find the right dose and evaluate how well the medication works in removing excess iron from the body, a common complication from regular blood transfusions.
Main inclusion criteria: Adults aged 18 years or older with transfusion-dependent alpha or beta-thalassemia who need treatment to remove excess iron from their body. Participants must weigh at least 35 kg and have been on a stable dose of iron removal therapy for at least 4 weeks. They must have iron overload in the liver, with levels between 5 and 35 mg/g dry weight, and have been treated and monitored at a specialized center for at least 6 months.
Main exclusion criteria: Individuals who are not dependent on blood transfusions, do not have the correct type of thalassemia, are outside the specified age range, cannot follow study procedures, are pregnant or breastfeeding, have other serious medical conditions, are taking medications that might interfere with the study, have recently participated in another trial, or have a history of allergic reactions to the study medication.
Focus and goal: The trial will run for up to 48 weeks, during which participants take SP-420 orally. The main goal is to measure how much iron is removed from the body over 24 weeks. Researchers will use MRI scans to track changes in liver iron levels and monitor any side effects to ensure the treatment is safe.
Investigational drug: SP-420 is an experimental iron chelator that works by modulating iron metabolism in the body. It aims to reduce the need for blood transfusions by helping remove excess iron that accumulates from regular transfusions.
Study on Luspatercept for Improving Brain Oxygenation in Patients with Non-Transfusion Dependent Thalassemia
This study is investigating luspatercept, a medication given by injection, for patients with non-transfusion dependent thalassemia. The main focus is to see whether this treatment can improve how the brain uses oxygen and potentially reduce anemia symptoms.
Main inclusion criteria: Adults aged 18 years or older with non-transfusion dependent beta-thalassemia who have baseline hemoglobin levels of 10.0 or less. Participants must have received 5 or fewer red blood cell transfusion units in the 24 weeks before joining. Women of childbearing potential and men must use effective birth control methods throughout the study and for 30 days after the last dose.
Main exclusion criteria: Patients who need regular blood transfusions, have other serious health conditions that might interfere with the study, are pregnant or breastfeeding, have recently participated in another clinical trial, have allergies to the study medication, or are unable to follow study procedures.
Focus and goal: The 27-week trial will measure the cerebral metabolic rate of oxygen using special MRI techniques. Researchers will also assess blood flow in the brain and heart function. The goal is to determine if luspatercept can increase hemoglobin levels by at least 1 gram per deciliter, which could improve anemia symptoms. Participants will have regular blood tests and heart scans throughout the study.
Investigational drug: Luspatercept is an erythroid maturation agent given by subcutaneous injection. It works by binding to certain proteins that help regulate red blood cell production, potentially increasing hemoglobin levels and improving cerebral oxygen metabolism.
Study on the Effects of Exagamglogene Autotemcel for Patients with Transfusion-Dependent Beta-Thalassemia or Severe Sickle Cell Disease
This trial is testing CTX001, an advanced gene therapy that uses a patient’s own blood stem cells modified with CRISPR-Cas9 technology. The treatment aims to help the body produce more fetal hemoglobin, which can reduce symptoms and the need for blood transfusions.
Main inclusion criteria: Adolescents and adults with either transfusion-dependent beta-thalassemia or severe sickle cell disease who are eligible for an autologous stem cell transplant. For those with thalassemia, participants must have a confirmed genetic diagnosis and a history of needing significant blood transfusions in the past two years (at least 100 mL per kg of body weight per year or 10 units of packed red blood cells per year). Those with sickle cell disease must have experienced at least two severe vaso-occlusive crisis events per year in the past two years.
Main exclusion criteria: Patients who are not dependent on blood transfusions, do not have severe sickle cell disease, are not in the specified age range, or are part of a vulnerable population that might need special protection.
Focus and goal: This study evaluates the effectiveness and safety of a single dose of CTX001. The treatment process involves collecting a patient’s stem cells, modifying them in a laboratory using CRISPR technology, and then returning them to the patient through an infusion after a conditioning treatment with busulfan. Participants will be closely monitored over time to track fetal hemoglobin levels and assess safety.
Investigational drugs: CTX001 uses CRISPR/Cas9 modified stem cells to correct genetic defects. Additional medications used in the study include filgrastim and plerixafor (to help collect stem cells through subcutaneous injections) and busulfan (given intravenously to prepare the body for the modified cells).
Long-Term Safety and Efficacy Study of Betibeglogene Autotemcel Gene Therapy for Patients with Transfusion-Dependent Beta-Thalassemia
This is a long-term follow-up study for patients who have already received LentiGlobin BB305 gene therapy in previous trials. The study monitors the long-term safety and effectiveness of this treatment over an extended period.
Main inclusion criteria: Male and female patients, including children and adolescents, who have previously been treated with the LentiGlobin BB305 drug product for transfusion-dependent beta-thalassemia in a bluebird bio-sponsored clinical study. Written informed consent must be provided by the patient or their parent/legal guardian.
Main exclusion criteria: Patients who have not been treated with the gene therapy drug in previous studies, are not dependent on regular blood transfusions, have other serious health conditions that might interfere with the study, cannot follow study procedures or attend follow-up visits, are pregnant or breastfeeding, have a history of allergic reactions to components of the gene therapy drug, or are currently participating in another clinical trial.
Focus and goal: The study monitors participants for any new or worsening health conditions, including immune-related issues or blood disorders, over the long term. Researchers will evaluate how well the treatment continues to work by tracking hemoglobin levels, transfusion needs, and quality of life. The study assesses the expression of the therapeutic gene in blood at 5, 10, and 15 years after treatment, and monitors iron levels in the body using MRI.
Investigational drug: LentiGlobin BB305 is a gene therapy treatment where a patient’s own stem cells are collected, modified outside the body using a lentiviral vector to include a functional gene, and then returned to the patient through an intravenous infusion. The goal is to correct the genetic defect causing the disease and reduce or eliminate the need for regular blood transfusions.
Study on the Safety and Effectiveness of CRISPR-Cas9 Modified Stem Cells for Patients with Transfusion-Dependent Beta-Thalassemia Using Exagamglogene Autotemcel
This trial is testing CTX001, a cutting-edge gene therapy using CRISPR-Cas9 technology to modify a patient’s own stem cells. The goal is to help the body produce more healthy blood cells, potentially reducing or eliminating the need for regular blood transfusions.
Main inclusion criteria: Male and female patients with a diagnosis of transfusion-dependent beta-thalassemia who have a history of receiving at least 100 mL per kg of body weight per year, or at least 10 units of packed red blood cell transfusions each year, in the two years before joining the study. Patients must be eligible for an autologous stem cell transplant as determined by the study doctor.
Main exclusion criteria: Patients who are not dependent on blood transfusions, are not diagnosed with beta-thalassemia, are not within the specified age range, are part of a vulnerable population, or do not meet other specific health criteria set by the study.
Focus and goal: Participants receive a single dose of modified stem cells after their body is prepared with busulfan medication. The study evaluates safety and effectiveness by monitoring how quickly the body starts producing its own blood cells and tracking various health indicators over time. The aim is to reduce dependence on regular blood transfusions and improve quality of life.
Investigational drugs: CTX001 consists of the patient’s own stem cells modified using CRISPR-Cas9 technology to increase fetal hemoglobin production. The treatment process also involves filgrastim and plerixafor (to help collect stem cells through injections) and busulfan (given intravenously to prepare the body for the new cells).
Summary
The five ongoing clinical trials for beta-thalassemia represent a mix of innovative treatment approaches. Three trials are testing advanced gene therapies using CRISPR-Cas9 technology or lentiviral vectors to modify patients’ own stem cells, offering potential long-term solutions to reduce or eliminate the need for regular blood transfusions. These gene therapy trials are concentrated in Germany and Italy, with additional sites in France and Greece.
One trial is examining luspatercept, a medication that aims to improve anemia by helping red blood cells mature properly, with a particular focus on improving brain oxygenation in patients who do not require regular transfusions. This study is taking place in the Netherlands.
Another trial is testing SP-420, an oral medication designed to remove excess iron that accumulates from repeated blood transfusions. This study is being conducted in Italy, Greece, and Denmark.
The trials target different patient populations, with some focusing on transfusion-dependent patients who need regular blood transfusions, and one specifically for non-transfusion dependent patients. The gene therapy trials are particularly notable for their use of cutting-edge CRISPR technology, representing the forefront of medical research in treating this genetic blood disorder. Most trials are open to adults, while some gene therapy studies also include adolescents and children who have previously received treatment.
