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Ongoing Clinical Trials for Thalassaemia

There are currently 8 ongoing clinical trials investigating treatments for thalassaemia across multiple European countries. These studies are exploring innovative approaches including gene therapy, enzyme activators, and supportive care medications for both transfusion-dependent and non-transfusion-dependent forms of the disease.

Clinical trial locations

Long-term Safety Study of Exagamglogene Autotemcel for Patients with Sickle Cell Disease or Transfusion-Dependent Thalassemia

This trial is evaluating the long-term safety of CTX001, a gene therapy treatment using CRISPR-Cas9 technology. The study is specifically designed for patients who have already received CTX001 treatment in previous studies for either Sickle Cell Disease or Transfusion-dependent Thalassemia.

Who can participate: The trial is open to male and female patients of all ages who have already received a CTX001 infusion in a previous study. Both the patient or their legal representative must sign an informed consent form. The study accepts older children, teenagers, and adults.

Who cannot participate: Patients who do not have either Sickle Cell Disease or Transfusion-Dependent Thalassemia are excluded. Those who are part of a vulnerable population requiring extra protection or care cannot participate.

Study goals: The main purpose is to monitor the long-term safety of CTX001 over an extended period, tracking any new health issues such as new cancers or blood disorders. Researchers will also assess changes in hemoglobin levels and evaluate the presence of intended genetic modifications in blood and bone marrow. The study aims to provide insights into how CTX001 affects patients’ overall health and quality of life over time, with monitoring continuing for up to 15 years after treatment.

Investigational treatment: CTX001 is a cell therapy that uses CRISPR-Cas9 gene editing to modify patients’ own blood-forming stem cells. The goal is to restore natural production of fetal hemoglobin, which can help improve symptoms of these blood disorders.

Long-term safety study of oral etavopivat tablets in children, adolescents and adults with sickle cell disease or thalassaemia who completed previous etavopivat treatment

This study focuses on understanding the long-term safety and effectiveness of etavopivat, a medication given as a 200 mg tablet taken by mouth. The trial is specifically for patients who have previously completed treatment with etavopivat in other studies and showed improvement.

Who can participate: Patients must have completed at least one treatment period in a previous etavopivat study for Sickle Cell Disease or Thalassemia and must have shown positive results from that treatment. Both male and female patients, including children, adolescents, and adults, can participate. Those taking other medications such as hydroxyurea, crizanlizumab, or L-glutamine oral powder may participate if their doses have been stable.

Who cannot participate: Individuals under 2 years of age, pregnant or breastfeeding women, and patients with severe liver or kidney problems are excluded. Those with uncontrolled high blood pressure, active infections, history of severe allergic reactions to medications, significant heart conditions, or unstable medical conditions cannot participate. Patients who have had major surgery within 30 days or are participating in other clinical trials are also excluded.

Study goals: The trial aims to evaluate the long-term safety of etavopivat by monitoring various health aspects including any side effects, hospital stays, and changes in blood cell measurements. The study will track hemoglobin levels and assess the overall impact on patients’ health throughout the treatment period.

Investigational treatment: Etavopivat (also known as FT-4202) is a medication that works by modifying how red blood cells function to help improve their shape and survival. It is being studied for its potential as a long-term treatment option for blood disorders.

Study on Long-Term Safety of Luspatercept for Patients with Myelodysplastic Syndrome, Beta-Thalassemia, or Myelofibrosis Who Previously Participated in Luspatercept Trials

This trial evaluates the long-term safety of luspatercept in patients who have previously participated in other luspatercept trials. The study includes patients with myelodysplastic syndrome, beta-thalassemia, or myelofibrosis.

Who can participate: Patients must be at least 18 years old and already participating in a previous luspatercept trial. They must be either currently receiving luspatercept and benefiting from it, previously received a placebo and should now start luspatercept, or be in the follow-up phase. Participants must understand and sign a consent form, follow study visit schedules, and adhere to birth control requirements if applicable.

Who cannot participate: Patients who have not participated in other luspatercept trials, those who have progressed to acute myeloid leukemia, or developed other cancers or pre-cancerous conditions are excluded. Those not within the specified age range or clinical trial groups cannot participate.

Study goals: The primary objective is to monitor long-term safety, including any progression to acute myeloid leukemia or development of other cancers. The study will track overall survival, adverse events, and any new growths. Regular monitoring will be conducted throughout the treatment period, which can last up to 360 days.

Investigational treatment: Luspatercept is administered as a subcutaneous injection and works by binding to certain proteins in the body to help regulate red blood cell production. It is an erythroid maturation agent that aids in the development of red blood cells.

Study on Luspatercept for Improving Brain Oxygenation in Patients with Non-Transfusion Dependent Thalassemia

This clinical trial is investigating whether luspatercept can improve how the brain uses oxygen in patients with non-transfusion dependent beta-thalassemia. The study will assess this through special MRI imaging techniques.

Who can participate: Patients must be 18 years or older with non-transfusion dependent beta-thalassemia and a baseline hemoglobin level of 10.0 or less. They should have received 5 or fewer red blood cell units in the 24 weeks before joining. Both males and females can participate, but must use appropriate birth control methods during the study.

Who cannot participate: Patients who need regular blood transfusions, those with other serious health conditions that might interfere with the study, pregnant or breastfeeding individuals, those with allergies to the study medication, and patients who have recently participated in another clinical trial are excluded.

Study goals: The primary goal is to determine if luspatercept can improve the cerebral metabolic rate of oxygen using MRI measurements. The study will also examine blood flow in the brain and heart function over a 27-week period. Researchers aim to see if treatment can increase hemoglobin levels by at least 1 gram per deciliter, potentially improving anemia symptoms.

Investigational treatment: Luspatercept is administered via intravenous infusion and works by binding to certain proteins to regulate red blood cell maturation, potentially increasing hemoglobin levels and improving oxygen delivery to the brain.

Study on the Safety and Effectiveness of CTX001 for Children with Transfusion-Dependent Beta-Thalassemia Using Exagamglogene Autotemcel and a Drug Combination

This trial is evaluating CTX001, a gene therapy treatment using CRISPR-Cas9 technology, specifically for children with Transfusion-Dependent β-Thalassemia. The treatment involves modifying the patient’s own blood stem cells to improve hemoglobin production.

Who can participate: Children between ages 2 and 18 with a confirmed diagnosis of Transfusion-Dependent Thalassemia can participate. They must have documented genetic confirmation of homozygous or compound heterozygous β-thalassemia, including β-thalassemia/hemoglobin E. Patients must have a history of receiving at least 100 milliliters of packed red blood cells per kilogram of body weight annually for the past two years, or if they started transfusion therapy more recently, they must have needed transfusions every 3 to 4 weeks for at least 6 months.

Who cannot participate: Patients who are not dependent on blood transfusions or who are unable to receive treatment involving their own modified stem cells cannot participate.

Study goals: The study aims to assess the safety and effectiveness of a single dose of CTX001 in reducing or eliminating the need for blood transfusions. Participants will be monitored to see if they can maintain healthy hemoglobin levels without transfusions, with the primary goal being to achieve transfusion independence for at least 12 consecutive months. The study includes regular check-ups and laboratory tests to assess health and response to treatment.

Investigational treatment: CTX001 involves using CRISPR-Cas9 technology to modify patients’ own stem cells. Additional medications used in the study include Filgrastim, Busulfan, and Plerixafor, which help prepare the body for treatment.

Study on the Effectiveness and Safety of Mitapivat for Patients with Non-Transfusion-Dependent Alpha or Beta Thalassemia

This trial is testing Mitapivat, an oral medication, to see how effective it is in treating anemia in patients with non-transfusion-dependent alpha or beta thalassemia. The study uses a double-blind design, comparing Mitapivat to a placebo.

Who can participate: Patients must be at least 18 years old with a confirmed diagnosis of thalassemia through specific tests. Their hemoglobin concentration should be 10.0 g/dL or lower based on at least two measurements taken at least 7 days apart. Patients should not be dependent on blood transfusions, having received 5 or fewer red blood cell units in the 24 weeks before starting and no transfusions 8 weeks before enrollment. If taking hydroxyurea, the dose must have been stable for at least 16 weeks. Appropriate birth control measures are required for those who can become pregnant.

Who cannot participate: Patients who need regular blood transfusions, those with other serious health conditions that might interfere, pregnant or breastfeeding individuals, those taking certain medications that could affect study results, patients who have recently participated in another clinical trial, or those with a history of allergic reactions to the study medication are excluded.

Study goals: The main goal is to observe if there is an increase in hemoglobin levels, specifically a hemoglobin response defined as an increase of at least 1.0 g/dL in average hemoglobin concentration from Week 12 through Week 24 compared with baseline. Regular monitoring and assessments will be conducted throughout the study period.

Investigational treatment: Mitapivat is taken orally in tablet form and works by activating an enzyme in red blood cells called pyruvate kinase, which may help improve their function and increase hemoglobin levels.

Study on the Effects of Mitapivat for Patients with Transfusion-Dependent Alpha or Beta Thalassemia

This trial is evaluating Mitapivat to determine if it can reduce the need for blood transfusions in patients with transfusion-dependent alpha or beta thalassemia. The study uses a double-blind, placebo-controlled design.

Who can participate: Patients must be 18 years or older with a documented diagnosis of thalassemia based on DNA testing. They must be transfusion dependent, having received between 6 to 20 units of red blood cells without going more than 6 weeks without a transfusion in the 24 weeks before starting. If taking hydroxyurea, the dose must have been stable for at least 16 weeks. Appropriate birth control measures are required for those of childbearing potential.

Who cannot participate: Patients not dependent on blood transfusions for their condition, those with medical conditions other than thalassemia requiring regular transfusions, pregnant or breastfeeding individuals, those who recently participated in another clinical trial, patients unable to follow study procedures or take the medication as required, and those with certain other health conditions that might interfere are excluded.

Study goals: The main objective is to see if Mitapivat can reduce the number of blood transfusions needed by at least 50% over a 12-week period through Week 48 compared to baseline. This could potentially improve quality of life by reducing reliance on transfusions. Regular check-ups will monitor health and treatment effects throughout the study.

Investigational treatment: Mitapivat (also known as AG-348) is taken orally in tablet form and works by activating pyruvate kinase, an enzyme crucial for energy production in red blood cells, helping to improve their function and lifespan.

Study on Long-Term Safety of Ruxolitinib, Panobinostat, and Siremadlin for Patients Continuing Treatment from Previous Studies

This trial is evaluating the long-term safety of treatments involving ruxolitinib, either alone or in combination with other medications such as panobinostat, siremadlin, or rineterkib. The study is designed for patients who have previously participated in studies with these medications.

Who can participate: Patients must currently be enrolled in a Novartis or Incyte-sponsored study and receiving treatment with ruxolitinib alone or in combination with panobinostat, siremadlin, or rineterkib. They must have met all requirements of their original study and must be benefiting from the treatment as determined by their doctor. Both male and female patients from different age groups, including children, teenagers, and adults, can participate.

Who cannot participate: Patients not within the specified age range, those not meeting specific disease criteria from the parent protocol, patients not part of the specified clinical trial group, and those considered part of a vulnerable population are excluded.

Study goals: The primary objective is to gather long-term safety data by monitoring the frequency and severity of side effects or adverse events. The study will also assess the clinical benefits experienced by participants through regular evaluations conducted at scheduled visits.

Investigational treatments: Ruxolitinib is used to treat certain blood disorders by reducing symptoms. Panobinostat is studied for its potential to manage cancer by slowing cancer cell growth. Siremadlin is being investigated for targeting specific pathways that cancer cells use. Rineterkib is studied for its ability to interfere with processes that allow cancer cells to multiply. All medications are administered orally in capsule or tablet form.

Summary

The eight ongoing clinical trials for thalassaemia represent diverse therapeutic approaches across multiple European countries. Italy and Germany stand out with the highest number of participating trials, each hosting six studies, followed by several other countries including France, Greece, Netherlands, Spain, Bulgaria, and Belgium.

A notable trend is the focus on gene therapy approaches, particularly CRISPR-Cas9 based treatments like CTX001, which offer potentially curative options for transfusion-dependent patients. Several trials are investigating enzyme activators such as mitapivat and etavopivat, which aim to improve red blood cell function and reduce transfusion needs. Luspatercept appears in multiple studies as a treatment option for improving anemia management.

The trials address both transfusion-dependent and non-transfusion-dependent forms of the disease, with some studies specifically targeting pediatric populations while others focus on adults. Many trials are designed as long-term safety follow-up studies, reflecting the importance of understanding the extended effects of these innovative treatments. The research spans various outcome measures including transfusion independence, hemoglobin response, quality of life improvements, and overall safety profiles.

Ongoing Clinical Trials on Thalassaemia

  • Long-term safety study of oral etavopivat tablets in children, adolescents and adults with sickle cell disease or thalassaemia who completed previous etavopivat treatment

    Recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    France Germany Greece Italy Spain

  • A Study of Gene Therapy Using Modified Stem Cells for Patients with Transfusion-Dependent Beta-Thalassemia Who Need Regular Blood Transfusions

    Not yet recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    Italy

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