Clinical Trial / Clinical Trial Phase

A clinical trial is “a type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease. Also called clinical study.” (Source: National Cancer Institute)

A clinical trial phase is “a part of the clinical research process that answers specific questions about whether treatments or other interventions that are being studied work and are safe. Phase I trials test the best way to give a new treatment and the best dose. Phase II trials test whether a new treatment has an effect on the disease. Phase III trials compare the results of people taking a new treatment with the results of people taking the standard treatment [or a placebo].” (Source: National Cancer Institute)

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Compassionate use or expanded access is “a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available. Investigational drugs, biologics or medical devices have not yet been approved or cleared by the U.S. Food and Drug Administration (FDA) and FDA has not found these products to be safe and effective for their specific use. Furthermore, the investigational medical product may, or may not, be effective in the treatment of the condition, and use of the product may cause unexpected serious side effects.” (Source: U.S. Food and Drug Adminstration)

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A procedure that uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body. The pictures are taken from different angles and are used to create 3-dimensional (3-D) views of tissues and organs. A dye may be injected into a vein or swallowed to help the tissues and organs show up more clearly. A computed tomography scan may be used to help diagnose disease, plan treatment, or find out how well treatment is working. Also called CAT scan, computerized axial tomography scan, computerized tomography, and CT scan.

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“The CTNNB1 gene provides instructions for making a protein called beta-catenin.” (Source: National Institutes of Health)

Most desmoid tumors are associated with mutations in the CTNNB1 gene. Beta-catenin has many roles in the cell including cell-to-cell connections and regulating the expression of other genes. Mutation or overexpression of beta-catenin has been associated with cancers and tumors including hepatocellular carcinoma, colorectal carcinoma, lung cancer, desmoid tumors, and more. Most desmoid tumors are associated with mutations in the CTNNB1 gene.

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“A procedure in which an extremely cold liquid or an instrument called a cryoprobe is used to freeze and destroy abnormal tissue. A cryoprobe is cooled with substances such as liquid nitrogen, liquid nitrous oxide, or compressed argon gas. Cryoablation may be used to treat certain types of cancer and some conditions that may become cancer. Also called cryosurgery and cryotherapy.” (Source: National Cancer Institute)

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Doxorubicin Eluting Embolization (DEE), a type of trans-arterial chemoembolization (TACE), is a method to treat desmoid tumors by exposing the tumor to a high concentration of doxorubicin while minimizing the doxorubicin exposure to the rest of the body. In DEE a pharmacist will first mix doxorubicin with drig-eluting microparticles designed to soak up the drug in the bottle but release it in the body. The treatment is then performed by an Interventional Radiologist who will will make a tiny incision to allow the navigatation of a catheter into the arterial blood supply of the Desmoid tumor. Once in position, the doxorubicin loaded micro-beads are released into the tumor tissue and there they slowly elute the chemotherapy. The procedure is usually performed using local anesthesia and sedation, and takes a 2-3 hours. Patients typically undergone two to three procedures to treat the entire desmoid. Large and rapidly growing tumors may require more. DEE is usually offered after failure of at least one systemic therapy. Generally, DEE is performed for larger tumors (>5cm diameter) or smaller tumors if Cryoablation risks Neuro vascular injury.

DEE for Desmoid tumors was first described in 2018 (https://pubmed.ncbi.nlm.nih.gov/30075974/), with additional reports published in 2022 (https://pubmed.ncbi.nlm.nih.gov/36291829/ and https://pubmed.ncbi.nlm.nih.gov/35441242/). Following the promising results seen in these preliminary studies, a dedicated multi center prospective trial is in the works with sites at the Royal Marsden in London, LMU in Munich, University of Heidelberg, Italian National Cancer Institute in Milan and at Share Zedek Medical Center in Jerusalem. Other sites with experience in DEE include Hong Kong Childrens Hospital; Kids Cancer Center in Sydney and Memorial Sloan Kettering Cancer Center in NY.