Ongoing Clinical Trials for Congenital Aplastic Anaemia
There are currently 4 ongoing clinical trials investigating new treatments for congenital aplastic anaemia, also known as Fanconi anemia. These studies are taking place in Spain, Germany, and Italy, and involve innovative approaches including gene therapy and targeted medications to address this rare genetic disorder and its complications.
Clinical trial locations
- Germany
- Italy
- Spain
- Long-Term Study on the Safety and Effects of RP-L102 Infusion for Patients with Fanconi Anemia Subtype A
- Study on the Safety and Effectiveness of Afatinib for Fanconi Anemia Patients with Advanced Squamous Cell Carcinoma in the Oral Cavity, Oropharynx, Hypopharynx, or Larynx
- Study on the Safety and Effects of Infusing Modified CD34+ Cells for Patients with Fanconi Anemia Subtype A
Long-Term Study on the Safety and Effects of RP-L102 Infusion for Patients with Fanconi Anemia Subtype A
This study focuses on evaluating the long-term safety and effectiveness of RP-L102, also known as Fancalen, for patients with Fanconi anemia subtype A. The treatment involves using gene therapy to correct the genetic defect that causes this condition.
Main inclusion criteria: Participants must have previously enrolled in one of the earlier RP-L102 studies and received an infusion of their own blood cells that were modified with a special vector carrying the FANCA gene. They must be willing to attend all study visits and follow the study procedures, and they must have signed a consent form agreeing to participate.
Main exclusion criteria: Patients with other serious medical conditions that might interfere with the study, those currently participating in another clinical trial, those with a history of allergic reactions to any component of the study treatment, those who are unable to comply with study procedures, and those who are pregnant or breastfeeding cannot participate. Additionally, patients with a history of certain blood cancers such as acute myeloid leukemia or myelodysplastic syndrome, or solid organ tumors like squamous cell carcinoma of the head and neck, are excluded.
Study focus: The study monitors participants over an extended period to observe how well the modified cells persist in the bone marrow and blood, whether they help maintain stable blood counts, and to assess any potential long-term side effects, including the risk of developing blood-related conditions.
Investigational drug: RP-L102 is a gene therapy that involves taking the patient’s own blood-forming cells and modifying them outside the body using a lentiviral vector. These cells are then infused back into the patient to help produce healthy blood cells and improve their condition over time.
Study on the Effectiveness and Safety of Alpelisib for Patients with Dent 2 Disease
This trial is exploring the use of Alpelisib to improve kidney function in patients with Dent disease type 2, a rare kidney condition. Although this study is not specifically focused on Fanconi anemia, Dent disease type 2 shares some similar characteristics involving impaired cellular function.
Main inclusion criteria: Participants must be at least 18 years old with genetically confirmed Dent 2 disease and have an estimated glomerular filtration rate of at least 50 ml/min/1.73 m². Only male patients are eligible as the disease is linked to the X chromosome. Participants must sign an informed consent form and be expected to follow study procedures.
Main exclusion criteria: Females cannot participate in this study. Individuals considered part of a vulnerable population, who might have difficulty giving informed consent or are at higher risk of harm, are also excluded.
Study focus: The study evaluates how well Alpelisib works in increasing the kidney’s ability to absorb certain substances. Participants will take the medication for four weeks, starting with 50 mg per day for the first week, followed by 150 mg per day for the next three weeks. Throughout the study, researchers will monitor changes in kidney function using special imaging techniques.
Investigational drug: Alpelisib is taken orally in tablet form. It works by inhibiting a specific enzyme involved in cell growth and metabolism, which may help manage the symptoms of Dent 2 disease. It is classified as a PI3K inhibitor.
Study on the Safety and Effectiveness of Afatinib for Fanconi Anemia Patients with Advanced Squamous Cell Carcinoma in the Oral Cavity, Oropharynx, Hypopharynx, or Larynx
This study is investigating Afatinib as a treatment for patients with Fanconi anemia who have developed advanced squamous cell carcinoma in the mouth, throat, or voice box areas. These cancers are a serious complication that can occur in people with Fanconi anemia.
Main inclusion criteria: Patients must be 18 years or older with confirmed Fanconi anemia and unresectable or locally advanced squamous cell carcinoma in the oral cavity, oropharynx, hypopharynx, larynx, or related areas. The tumor must not be suitable for surgical removal and patients should not be candidates for standard treatments like radiotherapy, chemotherapy, or immunotherapy that could cure the cancer. Participants must have adequate organ and bone marrow function, with an ECOG performance status less than 2, and must agree to use appropriate birth control methods during the study.
Main exclusion criteria: Patients without confirmed unresectable or metastatic locally advanced squamous cell carcinoma in the specified areas, those without Fanconi anemia, and those outside the specified age range are excluded.
Study focus: The trial aims to understand how safe and effective Afatinib is in controlling these cancers and improving quality of life. The study will compare different doses of Afatinib and monitor patients for side effects and cancer response over time. Researchers will also evaluate how long the treatment effects last and overall survival rates.
Investigational drug: Afatinib is taken orally in tablet form. It works by inhibiting certain proteins that promote cancer cell growth, specifically targeting the epidermal growth factor receptor and related pathways. It is classified as a tyrosine kinase inhibitor, a type of targeted cancer therapy.
Study on the Safety and Effects of Infusing Modified CD34+ Cells for Patients with Fanconi Anemia Subtype A
This clinical trial is evaluating the long-term safety and effectiveness of Fancalen, a gene therapy treatment for Fanconi Anemia Subtype A. The treatment uses the patient’s own blood cells that have been modified to carry a healthy version of the FANCA gene.
Main inclusion criteria: Patients must have participated in the earlier FANCOLEN-I study and received an infusion of their own gene-corrected blood-forming cells. They must be willing to follow the study visit schedule and have given written permission to participate. Patients who have had a donor transplant of blood-forming cells due to bone marrow failure or certain blood cancers are also included.
Main exclusion criteria: Patients with other serious medical conditions that could interfere with the study, recent infections, those taking medications that might interfere with the study treatment, those with a history of allergic reactions to similar treatments, those who are pregnant or breastfeeding, those who have participated in another recent clinical trial, those with substance abuse history, those with mental health conditions that might interfere with participation, and those who do not agree to follow study requirements are excluded.
Study focus: The study monitors how the modified cells behave in the body, including their ability to persist in the bone marrow and blood, and whether they help stabilize blood counts. Researchers will assess if the treatment reduces the risk of developing blood-related cancers or other tumors. Regular follow-up visits will include blood tests and other assessments to ensure the treatment is working properly and to identify any potential issues early.
Investigational drug: The treatment involves autologous CD34+ cells that have been transduced with a lentiviral vector carrying the FANCA gene. These are special blood-forming cells taken from the patient’s own body and modified in the laboratory to correct the genetic defect, potentially improving blood cell production and overall health.
Summary
The current landscape of clinical trials for congenital aplastic anaemia reflects a concentration of research in Spain, which hosts three of the four ongoing studies. Two of these Spanish trials focus specifically on gene therapy approaches for Fanconi anemia subtype A, using modified blood cells to correct the underlying genetic defect. This represents a significant focus on addressing the root cause of the condition rather than just managing symptoms.
The trials demonstrate diversity in treatment approaches, ranging from gene therapy (RP-L102 and Fancalen) to targeted cancer therapies (Afatinib) for managing complications of the disease. The inclusion of an Afatinib trial spanning both Spain and Germany highlights international collaboration in addressing the serious complication of squamous cell carcinoma that can develop in patients with Fanconi anemia.
Notably, several of these studies are long-term follow-up trials, emphasizing the importance of understanding the sustained effects and safety of these innovative treatments over extended periods. This approach is particularly important for gene therapy, where monitoring for both therapeutic benefits and potential long-term risks is essential.
The presence of a kidney-focused trial involving Alpelisib, while not directly targeting Fanconi anemia, indicates broader research into related genetic conditions affecting cellular function. Together, these trials offer hope for improved treatment options for patients affected by this rare and challenging genetic disorder.