Moraxella Catarrhalis Lipooligosaccharide Based Conjugate Vaccines for the Prevention of Otitis Media and Respiratory Infections
CCR9 Knockout Mice
Mice will be distributed by The Jackson Laboratory; details about this mouse strain (Stock No. 027041) may be found at https://www.jax.org/strain/027041.
Monoclonal Antibodies Against Bacillus Anthracis Antigens
Assay for Predicting the Time of Onset of Niemann-Pick Disease Type C (NPC)
Therapeutic Management of Menkes Disease and Related Copper Transport Disorders
The only currently available treatment for Menkes disease, subcutaneous copper histidinate injections, is successful only in patients with ATP7A gene mutations that do not completely corrupt ATP7A copper transport function (estimated 20-25% of affected patients) and when started at a very early age (first month of life). The combination of viral gene therapy with copper injections provides working copies of the ATP7A copper transporter into the brain, together with a source of the substrate (copper) needed for proper brain growth and clinical neurodevelopment.
Gene Therapy Vector for the Treatment of Glycogen Storage Disease Type Ia (GSD-Ia)
GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA).
Substrate Reduction Therapy for Smith-Lemli-Opitz Syndrome and Related Disorders
Smith-Lemli-Opitz Syndrome (SLOS) is a rare autosomal recessive genetic disorder affecting the final step of cholesterol biosynthesis. SLOS is characterized by slow growth before and after birth, mental retardation, and multiple congenital disabilities. There is no FDA approved treatment for SLOS. Patients may benefit moderately from palliative care through an increase in dietary cholesterol to compensate for the endogenous block in cholesterol biosynthesis.
Use of Neurotrophic Factor-alpha1/Carboxypeptidase E (CPE) to Treat Alzheimer Disease
There is no known cure for Alzheimer’s disease, a brain disorder that severely affects memory, thinking, learning, and organizing skills. It eventually decreases a person’s ability to carry out simple, daily activities. It is predicted that over 14 million Americans will develop Alzheimer’s without effective treatment options. Mild cognitive impairment (MCI) is a stage prior to Alzheimer’s when memory problems become noticeable. A patient’s ability to function and live independently remain intact as the brain compensates for disease-related changes.
Improved Gene Therapy Vectors for the Treatment of Glycogen Storage Disease Type Ia (GSD-1a)
GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA).