NIH research to uncover XDP epidemiology using CCXDP-developed blood spot assay

by: Christian Allan Natanauan | Ikirara

An ongoing project titled “Investigating the Epidemiology of X-Linked Dystonia Parkinsonism” was greenlighted with the goal of providing a comprehensive understanding of the genetic prevalence of X-linked dystonia-parkinsonism (XDP) in the Philippines. The initiative is led by the National Institutes of Health (NIH) at the University of the Philippines Manila, in collaboration with the Philippine Genome Center (PGC), Harvard Medical School, and the Collaborative Center for X-Linked Dystonia Parkinsonism (CCXDP) at the Massachusetts General Hospital.

The project is part of recent efforts to decipher genetic information about XDP, an X-linked recessive neurodegenerative disease endemic in Panay Island. XDP is uniquely Filipino, originating from a genetic mutation in the TAF1 gene present in the common ancestor of affected individuals—a phenomenon known as the “founder effect.” 

Individuals with XDP commonly present with both dystonia, a movement disorder stemming from involuntary muscle contractions, and parkinsonism, an umbrella term associated with rigidity, tremors, and slow movement. The prevalence of XDP is 5.74 per 100,000 people in Panay and 0.31 per 100,000 in the Philippines, with about 95% of XDP patients being male.

The NIH-led project aims to provide further insight into the genetic distribution of XDP individuals in the country using an assay developed by Dr. Cristopher Bragg and Dr. Laurie Ozelius from the research team at CCXDP. Residual dried blood spots (rDBS) from 100,000 filter cards from the Philippine Newborn Screening Program were screened as population representatives and were set to undergo the said rapid detection assay. 

Aside from its expected impact on the surveillance of the rare disorder’s current status in the country, the project aims to serve as a basis for further research, clinical methods, and regulatory policies that can support people living with XDP. Its target completion date is in March 2026.

SOURCES CITED

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Lingdas, C. (2024). Research project to unravel genetic basis and epidemiology of XDP in Ph - University of the Philippines Manila. University of the Philippines Manila - The Health Sciences Center. https://www.upm.edu.ph/cpt_news/research-project-to-unravel-genetic-basis-and-epidemiology-of-xdp-in-ph/

MedlinePlus [Internet]. (2022). X-linked dystonia-parkinsonism: Medlineplus genetics. MedlinePlus. https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism/#causes

Pozojevic, J., Cruz, J. N., & Westenberger, A. (2021). X-linked dystonia-parkinsonism: Over and above a repeat disorder. Medizinische Genetik, 33(4), 319–324. https://doi.org/10.1515/medgen-2021-2105 

IMAGE SOURCE

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This article was originally published in GENEWS November 2024 Issue