Neuronal ceroid lipofuscinoses
- Autosomal dominant neuronal ceroid lipofuscinosis 4B
- Autosomal recessive neuronal ceroid lipofuscinosis 4A
- Batten disease
- Ceroid lipofuscinosis neuronal 1
- Ceroid lipofuscinosis neuronal 10
RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
Outcome Measures and Infrastructure for Phase III Studies in Batten Disease, JNCL, Saturday, September 22, 2012 - Monday, September 24, 2012
Location: Hyatt Regency, Atlanta, GA
Description: The main objective of the meeting is to bring together clinical research experts in JNCL to focus, for the first time, on establishing common ground for outcomes and infrastructure in support of Phase III Clinical Trials. Towards this end, it is anticipated that at the end of the meeting the participants will be able to identify potential clinical trial endpoints for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3 disease, Batten Disease); build upon the infrastructure for an International Patient Registry for JNCL and other NCL diseases, and provide opportunities for junior investigators pursuing research in JNCL to learn about and participate in the clinical research development process.
Gene Transfer and Rare Diseases Workshop, Thursday, September 13, 2012
Location: Rockville Hilton, Rockville, Maryland
Description: The NIH Office of Biotechnology Activities and Office of Rare Disease Research, NCATS, are co-sponsoring a workshop to discuss the advances in and challenges of gene transfer for rare diseases. There have been recent promising clinical successes in gene transfer protocols for rare diseases, such as retinal degeneration, hemophilia, and immune disorders. Investigators will discuss their results to date and opportunities and challenges for extending these successes to other similar rare diseases. The panel discussions will focus on strategies for maximizing opportunities for data sharing or platform development.
13th International NCL Congress, Wednesday, March 28, 2012 - Saturday, March 31, 2012
Location: London, England
Description: The conference will focus on therapeutic approaches for NCLs for which the genes and mutations have been identified and how it relates to intracellular protein trafficking, neuropathology, critical analysis and use of animal and cellular models and how to optimize these resources for therapeutic strategies, use of proteomics and system biology in understanding normal function of NCL genes, and avenues for molecular therapy, particularly on drug, gene and stem-cell based therapies.