Geraldine Acuña-Sunshine speaking
CCXDP Co-Founder Geraldine Acuña-Sunshine teaching Harvard undergraduates about XDP

The mission of the Massachusetts General Hospital Collaborative Center for X-linked Dystonia Parkinsonism (XDP) is to support research and clinical activities that advance our understanding and ability to treat XDP. 

The Center has the following objectives:

1. Identify the genetic substrates and cellular mechanisms that contribute to XDP pathogenesis

  • Genetic studies to identify the pathogenic mutation(s)
  • Genome-wide sequencing to identify variants associated with different patterns of clinical disease
  • Molecular, cell biological, biochemical and proteomic studies to identify affected cellular pathways/targets that may be specific to XDP, as well as ones that may be shared among similar neurodegenerative diseases
  • Neuropathological analyses of XDP brain tissue
  • Chemical genetic screens to seek small molecule probes that can rescue XDP-related cellular phenotypes or induce XDP-like phenotypes in other cells
  • Development of novel XDP model systems, including both cellular and animal models (e.g. mouse, Drosophila

2. Characterize the natural history and prevalence of XDP

  • Epidemiologic studies to identify and characterize XDP cases in the Philippines and North America, as well as surveys of “typical” and “atypical” parkinsonism in men of Filipino origin
  • Long-term evaluation of clinical outcomes in response to existing medical and surgical treatments
  • Development and validation of novel tools/rating scales and improvement of existing measures for specific assessment of XDP-related functional deficits
  • Identification and validation of candidate biomarkers of disease progression
  • Neuroimaging of affected XDP males and nonmanifesting female carriers
  • Identification and clinical assessment of non-Filipino pedigrees with similar dystonic phenotypes or apparent X-linked inheritance, as such cases may involve similar molecular lesions that reveal common pathogenic mechanisms
  • Expansion of infrastructure systems, including patient registries, sample biorepositories, brain banks, databases with associated software and networks that may facilitate future clinical trials

3. Improve delivery of care to XDP patients by expanding clinical resources and training

  • Establishment of clinical rotations in the Philippines that offer North American neurology residents and movement disorder fellows comprehensive training in the clinical presentation and management of XDP
  • Establishment of clinical research fellowships at Mass General and affiliated institutions that offer Filipino clinician-scientists training in XDP-related research methods
  • Strategies and systems for providing approved medications and medical equipment to clinical facilities within the Philippines
  • Development of new clinical facilities in the Philippines, and expansion of existing structures and organizations, that enhance access to medical care by XDP patients
  • Educational initiatives targeting XDP family members/caregivers and affected communities that promote awareness and training in specific skills