Clinical research (also known as natural history) studies examine the progression of the disease over time. These can be conducted by looking at a patient’s medical charts collected over a period of time (a retrospective, or past-looking, study); these can be conducted by studying the patient in the clinic through surveying the patient and family and by conducting tests such as MRI and other examinations in the clinic on a yearly basis (a prospective, or forward-looking study); or these can be a study that combines aspects of both of these.
Clinical research studies are essential in rare disease research. There are no risks to the patients, and the research benefits the entire disease community. The more researchers understand every aspect of the disease, at every age and in every facet of the body, the better they can design a treatment for the disease. In addition, by studying the disease over time, researchers can best understand when and by what means to treat the disease. Before a first-in-human treatment trial will be approved by the Food and Drug Administrations (FDA), researchers will be expected to answer these sensitive questions about precisely what happens to children and young adults with Mucolipidosis Type IV, and at what age, and why. The more people who participate in clinical research, the better our presentation to the FDA will be. In addition, families enrolling in clinical research enable researchers to collect more information on how to manage the disease even in advance of a treatment.