The Lysosomal Disease Network (LDN) issued a Request for Proposals (RFP) for studies aiming to participate in the competitive re-application to the National Institutes of Health “Rare Diseases Clinical Research Network” program. Details are provided in this document.
A Letter of Intent (LOI), with outline (a brief outline addressing proposed elements of the standard NIH PHS 398 form), was due at the LDN office on January 1, 2018. Following a brief constructive response from the LDN to their LOI and brief outline, completed outlines of applications were due by January 30, 2018. On February 9, 2018, a “Pitch Meeting” occurred at the LDN Expert Advisory Committee gathering at the Manchester Grand Hyatt San Diego Hotel, San Diego, California, USA. At that time each applicant delivered an oral presentation of their proposal to the LDN Expert Advisory Committee.
The Lysosomal Disease Network (LDN) is pleased to announce that it has selected Laura Adang, MD, PhD of The Children’s Hospital of Philadelphia for a fellowship that provides $50,000 for lysosomal disease clinical research. Her research project is entitled “Metachromatic leukodystrophy: characterization of genetic mutations, age of onset, and clinical subtypes.” Dr. Adang’s mentor for this project is Dr. Adeline Vanderver, also with The Children’s Hospital of Philadelphia. Dr. Adang’s fellowship period is August 1, 2017 – July 31, 2018. Click here for more information about the LDN’s fellowship opportunities.
The project is a multi-center retrospective natural history study to characterize the disease course in patients affected by metachromatic leukodystrophy (MLD). It will use statistical modeling to analyze collected clinical data to classify distinct subpopulations within the heterogeneous MLD population. Ultimately, it will evaluate the correlation and distinctions between the subpopulations with respect to genetic, radiographic, and ancillary clinical phenotypes, including gallbladder and renal involvement. Dr. Adang said the project goals include “validating or possibly redefining the clinical subtypes of metachromatic leukodystrophy. This can be used to design future studies and therapeutic trials. Importantly, with a better understanding of metachromatic leukodystrophy, we will be able to offer our families better anticipatory guidance, establish appropriate standards of care, and design better future therapeutic trials.”
Dr. Marc Patterson, Director, Education Core of the Lysosomal Disease Network, said “The Lysosomal Disease Network looks forward to a very productive research project, and wishes Dr. Adang the greatest success in achieving the goals of this research project, with a peer-reviewed publication summarizing the findings. Dr. Adang will also participate in the NIH-funded RDCRN Rare Disease Clinical Research Training Program, which is also open to new clinical investigators.”