Brunetti-Pierri N, Scaglia F GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug;94(4):391-6. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3. Review.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM Genetics and Therapies for GM2 Gangliosidosis. Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. Review.
Harding AE, Young EP, Schon F Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):687-90.
Neudorfer O, Kolodny EH Late-onset Tay-Sachs disease. Isr Med Assoc J. 2004 Feb;6(2):107-11.
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.
