Natural history study of x-linked Dystonia Parkinsonism

NIH RePORTER · NIH · R21 · $210,000 · view on reporter.nih.gov ↗

Abstract

Project Summary X-linked dystonia Parkinsonism (XDP) is a neurodegenerative disease that affects men whose mothers originate from the island of Panay, Philippines. Due to the relatively isolated region in which those with XDP live, and the rarity of the disease itself, limited data regarding the natural history is currently available. The goal of this application is to solidify an already established collaboration for a natural history study and the collection of DNA and other biological fluids. Natural history studies are important for understanding the etiology, range of manifestations and progression of a rare disease. Biospecimens are crucial to understand the underlying pathology at both the molecular and cellular level. In addition, investigators in the Philippines will undergo training in clinical research methodology in the United States. The training will improve their ability to conduct independent research on XDP in the Philippines.

Key facts

NIH application ID
10181089
Project number
5R21NS118541-02
Recipient
MASSACHUSETTS GENERAL HOSPITAL
Principal Investigator
NUTAN SHARMA
Activity code
R21
Funding institute
NIH
Fiscal year
2021
Award amount
$210,000
Award type
5
Project period
2020-06-15 → 2022-11-30