A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.

Late-infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively. TPP1 is well-understood and, aided by animal models that accurately recapitulate the human disease, enzyme replacement therapy has been approved and other promising therapies are emerging. In contrast, there are no effective treatments for JNCL, partly because the function of the CLN3 protein remains unknown but also because animal models have attenuated disease and lack robust survival phenotypes.

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.

Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse model of CLN6-Batten disease ( ), restoring lifespans in treated animals. Despite the success of our viral-mediated gene therapy, the dosing strategy was optimized for delivery to the brain parenchyma and may limit the therapeutic potential to other disease-relevant tissues, such as the eye.

Survey of pharmacists' and physicians' perceptions of therapeutic interchange.

Therapeutic interchange has long been an integral part of drug formulary management, but physicians' and pharmacists' attitudes toward such programs are relatively unknown. This survey was undertaken to determine pharmacists' attitudes, physicians' potential response to a hypothetical interchange, and how well pharmacists predicted physicians' responses. A survey that described a drug interchange program and several potential responses to the proposed switch was provided to 300 staff physicians at a 512-bed community facility in southwest Florida; the survey was also mailed to pharmacy directors or clinical pharmacy coordinators at 42 southwest Florida hospitals.