Validation of the GMFC-MLD

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

Description of the Research Project for the Supplementee The proposed work is distinct from, but within the scope of the existing GLIA-CTN funded-projects. This subproject focuses on metachromatic leukodystrophy (MLD), which is included broadly for data collection in Project 1. There is not an MLD-specific project as part of the GLIA-CTN. During the proposed work, Ms. Mutua will learn the steps on how to design and implement a rigorous natural history study from data base creation to development of standard operating procedures to data collection to statistical analysis. In her first year as a coordinator in the GLIA-CTN, Ms. Mutua was responsible for document preparation and data base management for the MLD natural history project. This involved the creation of clinical trial-style documentation, including case report forms and binders, for our natural history participants. She has worked closely with members of our data management core regarding data curation. She has performed statistical analysis on the related pilot data for this project with the close supervision of our statistics team. As such, she is deeply knowledgeable about implementation of a rigorous natural history study. She has studied statistics formally in college as well. The proposed work is well within the skills she has developed in the past year. This project supported independence and will nurture her passion for translational medicine and neuroscience.