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Mutations Associated With Parkinson s Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01547832
First received: March 6, 2012
Last updated: October 1, 2014
Last verified: January 2014
  Purpose

Background:

- Early-onset Parkinson's disease (EOPD) is more likely to be caused by gene mutations than Parkinson's disease that develops in older people. Studying these mutations may help find therapies for EOPD. Researchers want to study mutations on a gene called PARK2. These mutations prevent fat uptake into cells and may interfere with normal brain function. Researchers want to study fat and cholesterol in the body to look at the effects of these mutations on the body and brain.

Objectives:

- To study connections between genetic mutations and EOPD.

Eligibility:

  • Individuals between 18 and 80 years of age with EOPD.
  • Individuals between 18 and 80 years of age with no family history of Parkinson s disease.

Design:

  • Participants will be screened with a physical exam and medical history. Blood and urine samples will also be collected.
  • Participants will have some or all of the following tests:
  • Blood samples and tissue (skin and fat) biopsies
  • Cell line development from these tissue samples to study the function of PARK2
  • DEXA scan to measure body fat context using low dose x-rays
  • Glucose and insulin tolerance testing to measure blood sugar levels.
  • Treatment will not be provided as part of this protocol....

Condition
Parkinson's Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 215
Study Start Date: February 2012
Detailed Description:

The majority of subjects with the degenerative Parkinson s Disease present at around the age of 70 years. Other subjects develop this brain disease before the age of 40 years. This early onset presentation is more likely to have a direct genetic cause than the degenerative form of the disease. Our understanding of the genetic causes of early onset Parkinson s Disease may help us find therapies for both the genetic and more degenerative illnesses. Our laboratory has found that one of the genetic mutations associated with early onset Parkinson s Disease, in a gene called PARK2 results in impaired uptake of fat into cells. This may have detrimental effects in the brain, as the brain requires fat to make cholesterol and to send brain signals. A finding in mice lacking PARK2, is that they are resistant to diet induced diabetes and obesity and to fatty liver. These data suggests that the systemic and brain effects of low fat uptake may be opposing, with low fat uptake having a beneficial effect against risk factors such as obesity and diabetes but increasing the risk for brain diseases. To begin to test whether this is the case in subjects with PARK2 mutations we propose to test their fat uptake and glucose and insulin sensitivity.

  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

Parkinson s Subjects:

Screening:

  • Age 18 years to 80 years old with a history of early onset Parkinson disease (Presentation within the first five decades of life).
  • Diagnosis of Parkinson disease or Parkinsonism
  • Willingness and legal ability to give and sign informed study consent

Enrollment:

  • Mutations in PARK2
  • Willingness to travel to NIH for scheduled protocol studies

Control Subjects:

  • Age 18 years to 80 years old with no history or family history of Parkinson disease.
  • Willingness and legal ability to give and sign informed study consent
  • Willingness to travel to NIH for scheduled protocol studies
  • Willingness to have blood or tissue samples studied, and potentially stored for future research

EXCLUSION CRITERIA: < TAB>

Parkinson Subjects:

Screening:

  • Subjects who are unable or unwilling to sign an informed consent subjects with genetic defects associated with other diseases including other neurologic syndromes.
  • Subjects without medically treated diabetes who are unable/unwilling to undergo a glucose tolerance test

Enrollment:

- Pregnancy

Control Subjects

  • Subjects who are unable or unwilling to sign an informed consent
  • Subjects with genetic defects associated with other diseases including other neurologic syndromes.
  • Pregnancy
  • Medically treated diabetes
  • Unable/unwilling to undergo a glucose tolerance test
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01547832

Contacts
Contact: Rebecca D Huffstutler, C.R.N.P. (301) 594-1281 rebecca.huffstutler@nih.gov
Contact: Michael N Sack, M.D. (301) 402-9259 ms761k@nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Michael N Sack, M.D. National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT01547832     History of Changes
Other Study ID Numbers: 120084, 12-H-0084
Study First Received: March 6, 2012
Last Updated: October 1, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cholesterol
Early Onset Parkinson's Disease
Fat Metabolism
Insulin Resistance
PARK2 Mutations

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on October 02, 2014