While there is never a good time to have aplastic anemia, MDS, or PNH, the advances in recent decades have gone a long way to improving survival rates and quality of life for patients with these rare bone marrow failures. At the beginning of this century, scientists at the International Human Genome Project released a rough draft of the human genome to the public. Since that time advances in gene sequencing has helped researchers to understand the role of genes and mutations on bone marrow failure diseases. This opens new opportunities for research to better diagnose and treat these diseases. Research highlights found on our website include:
- Telomere gene mutation may be found in patients who seem to have a primary immune defect, such as paroxysmal nocturnal hemoglobinuria (PNH).
- Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview.
- Genetic characterization of acquired aplastic anemia by targeted sequencing.
Translational medicine is the discipline that aims to improve the health of individuals and the community by "translating" findings into diagnostic tools, medicines, procedures, policies and education. The National Center for Advancing Translational Science (NCATS) was established within the National Institutes of Health (NIH) to "transform the translational science process so that new treatments and cures for disease can be delivered to patients faster. Once a therapy shows promise in a laboratory, it needs to be tested to see how it works in actual patients. A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two main types of clinical studies: clinical trials (also called interventional studies) and observational studies.
In general, clinical studies are designed to add to medical knowledge related to the treatment, diagnosis, and prevention of diseases or conditions. Some common reasons for conducting clinical studies include:
- Evaluating one or more interventions (for example, drugs, medical devices, approaches to surgery or radiation therapy) for treating a disease, syndrome, or condition.
- Finding ways to prevent the initial development or recurrence of a disease or condition. These can include medicines, vaccines, or lifestyle changes, among other approaches.
- Evaluating one or more interventions aimed at identifying or diagnosing a particular disease or condition.
- Examining methods for identifying a condition or the risk factors for that condition.
- Exploring and measuring ways to improve the comfort and quality of life through supportive care for people with a chronic illness.
The U.S. Food and Drug Administration (FDA) has different categories or phases describing the clinical trial of a drug based on the study's characteristics. These phases are designed to answer certain questions. The descriptions below show how a therapy or medication moves from an idea in a scientist’s lab to the bedside of a patient:
- Phase 0 studies are exploratory studies that often use only a few small doses of a new drug in a few patients. They test to find out if and how the drug acts in the human body, and how cells in the human body respond to the drug. The patients in these studies might need extra biopsies, scans, and blood samples as part of the study process.
- Phase I: These studies that are usually conducted with healthy volunteers and that emphasize safety. The goal is to find out what the treatment’s most frequent and serious adverse events are and, often, how the drug is metabolized and excreted. Although the treatment has been tested in lab and animal studies, the side effects in people can’t always be predicted. These studies also help to decide on the best way to give the new treatment.
- Phase II: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition). For example, participants receiving the drug may be compared with similar participants receiving a different treatment, sometimes an inactive substance (called a placebo) or a different drug currently approved for treatment. Many studies look to see if people getting the new treatment live longer than they would have been expected to without the treatment.
- Phase III: These studies look at whether the new treatment is better than what is currently available. Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.
In the U.S., when phase III clinical trials show a new drug is more effective and/or safer than the current standard treatment, a new drug application (NDA) is submitted to the Food and Drug Administration (FDA) for approval. The FDA then reviews the results from the clinical trials and other relevant information. The FDA may ask for more information or even require that more studies be done which can add time to the approval process. Based on its review, the FDA decides if the treatment is OK to be used in patients with the type of illness the drug was tested on. Once a treatment is approved, the FDA is still interested in understanding how the drug or medicine works in the real world, on real patients.
- Phase 4: These studies occur after the FDA has approved a drug for use in the patient population. These studies gather additional information about a drug's safety, efficacy, or optimal use.
Want to know more about our efforts to help researchers advance the understanding and treatment of aplastic anemia, MDS, and PHH? Check out some of the researchers helping to advance the diagnosis and treatment of bone marrow failure diseases from the bench-to-the-bedside.