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Michael N. Sack, M.D., Ph.D.


Clinical Trials


NIH Clinical Study NCT01547832: Early Onset Parkinson Disease (Juvenile Parkinson Disease) biological repository for the study of mutations in PARK2

Parkinson disease (PD) is a complex neurodegenerative disorder characterized by shaking, stiffness, slowed movement, and impaired balance; the disease progresses slowly over time and these motor deficiencies gradually get worse. PD primarily affects people over 50, but in about 5-10 percent of cases it occurs in people as young as their 20s. Such cases are known as Early Onset Parkinson Disease (EOPD), or Juvenile Parkinson Disease. EOPD manifests early in life due to genetic influences, and researchers trying to uncover the genetic basis of EOPD.

The Sack laboratory has now begun a clinical study to screen patients diagnosed with Parkinson Disease before the age of 25 years to see if they have a mutation in the PARK2 gene. PARK2 encodes a protein called Parkin, and about one in three people diagnosed with EOPD have a PARK2 mutation.

Patients who express interest in the study will have blood samples taken to sequence their PARK2 gene.  If a mutation in PARK2 is identified, the individual would be then offered the opportunity to participate in a study at the National Institutes of Health in Bethesda, Maryland to collect blood, skin and fat samples to investigate why this disease develops at such an early age. Some of the samples will be used to make adult stem cells known as induced pluripotent stem cells (iPS).

The rare occurrence of EOPD makes it difficult to fully understand the disease and the establishment of this repository allows for a central resource of clinical data and tissue samples that researchers at NIH and elsewhere can analyze for clues into the origins and progression of PD. While this specific study will not directly offer any clinical services or test any drugs, the ultimate goal is to identify targets for potential future therapeutic intervention, so participants may benefit from future clinical study opportunities.

More information about this study is available on the ClinicalTrials.Gov website at: http://clinicaltrials.gov/ct2/show/NCT01547832

Interested potential candidates for the study –those diagnosed with Parkinson Disease before the age of 25-- can contact Dr. Michael Sack (sackm@nih.gov) and/or his Research Nurse – Dotti Tripodi (Tripodid@nhlbi.nih.gov) to find out further information and how to enroll.

Last Updated: July 22, 2013

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