Parkinson's DiseaseNCT01547832
Mutations Associated With Parkinson s Disease
An observational study of Parkinson's Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Parkinson's Disease
- How many people
- 42 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Feb 2012to 27 Aug 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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:
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- 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
Who cannot join
- 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
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- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease
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.
Read more
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.
Read the 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.
- Conditions
- Parkinson's Disease
- Keywords
- Cholesterol, Early Onset Parkinson's Disease, Fat Metabolism, Insulin Resistance, PARK2 Mutations
- Medical subject headings
- Parkinson Disease, Parkinsonian Disorders, Insulin Resistance
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2012 (estimated)
- Study start27 Feb 2012
- Study completion27 Aug 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Parkinson's DiseaseStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 42 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Michael N Sack, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01547832
- Sponsor's protocol ID
- 120084
- Other IDs
- 12-H-0084
- Status last verified
- 27 Aug 2018
- First submitted
- 6 Mar 2012
- Last updated
- 29 Aug 2018
- Results posted
- No
Publications
Greenamyre JT, Hastings TG. Biomedicine. Parkinson's--divergent causes, convergent mechanisms. Science. 2004 May 21;304(5674):1120-2. doi: 10.1126/science.1098966. No abstract available.
PubMed 15155938Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8. doi: 10.1038/33416.
PubMed 9560156Shimura H, Hattori N, Kubo Si, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet. 2000 Jul;25(3):302-5. doi: 10.1038/77060.
PubMed 10888878
Study at a glance
From the registry record, last updated by the sponsor on 29 Aug 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease
- ClinicalTrials.gov ID
- NCT01547832
- Acronym / sponsor ID
- 120084
- Conditions
- Parkinson's Disease
- Keywords
- Cholesterol, Early Onset Parkinson's Disease, Fat Metabolism, Insulin Resistance, PARK2 Mutations
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 42 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 27 Feb 2012
- Study completion
- 27 Aug 2018
- First posted
- 8 Mar 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (13 listed)
- 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
- Mutations in PARK2
- Willingness to travel to NIH for scheduled protocol studies
Key exclusion criteria (12 listed)
- 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
- Pregnancy
- Control Subjects
- Subjects who are unable or unwilling to sign an informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Aug 2018.
- Background: PubMed 15155938Greenamyre JT, Hastings TG. Biomedicine. Parkinson's--divergent causes, convergent mechanisms. Science. 2004 May 21;304(5674):1120-2. doi: 10.1126/science.1098966. No abstract available.
- Background: PubMed 9560156Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8. doi: 10.1038/33416.
- Background: PubMed 10888878Shimura H, Hattori N, Kubo Si, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet. 2000 Jul;25(3):302-5. doi: 10.1038/77060.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael N Sack, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Parkinson's Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 29 Aug 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early. Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01547832, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Aug 2018.