Parkinson DiseaseNCT00105131
Genetic Characterization of Parkinson's Disease
An observational study of Parkinson Disease and PD, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait. Patients with Parkinson's disease, their relatives and healthy volunteers may be eligible for this study. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Parkinson Disease, PD, Movement Disorder
- How many people
- 2,500 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2005to Nov 2005
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Individuals with Parkinson's disease OR
- Family members of an individual diagnosed with Parkinson's disease OR
- Healthy adult controls obtained through the NIH Clinical Research Volunteers Program (CVRP) or other healthy control volunteers who come forward.
Who cannot join
- Under the age of 18 years of age OR
- Individuals with Parkinsonism secondary to a specific cause such as toxin exposure, birth injury, head injury, or brain infection such as encephalitis.
- Healthy volunteers with a medical history or first degree family history of Parkinson's disease.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, 20892
About this study
This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait.
Patients with Parkinson's disease, their relatives and healthy volunteers may be eligible for this study. Candidates must be 18 years of age or older. Patients whose parkinsonism is due to a secondary cause, such as infection or injury, and healthy volunteers who have a first degree family member (parent, grandparent, child, sibling) with Parkinson's disease are excluded from enrollment.
Participants are asked about possible symptoms they may have and about their general health. They provide a blood sample to obtain DNA for genetic analysis to look for genetic differences that might be related to risks for Parkinson's disease. White blood cells may be treated in the laboratory to grow a cell line, which provides a source of substances in the blood without having to draw samples repeatedly.
Read the detailed description
Parkinson's disease (PD) was noted to have a familial component as early as 1880. More recently, the discovery of several genetic factors influencing Parkinson's disease has emphasized the importance of heredity in PD.
Objective: The goal of this protocol will be to contribute to the genetic understanding of Parkinson's disease. Clinical data will be collected in order to document the features of Parkinson's disease in affected individuals (phenotyping). Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinson's disease (genotyping).
Design: The study design has two components. The first (aim 1) involves positional cloning for gene discovery in families with apparent Mendelian inheritance. The second (aim 2) will utilize an association study design, using genetic case-control methods for assessment of genetic risk factors. We will examine individuals affected by Parkinson's disease and their family members towards Specific Aim 1. Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinson's disease, and also, healthy adult volunteers who will be recruited as control subjects.
Outcome Measures:
Primary Outcome Measures for Specific Aim 1 are:
- The identification of new genes causal for Parkinson's disease.
- The identification of new mutations in known genes.
Primary Outcome Measures for Specific Aim 2 are:
- The discovery of gene variants which confer risk for Parkinson's disease.
- The validation of already reported polymorphisms as risk factors for PD.
Secondary Outcome Measures (both Specific Aims 1 and 2): Genotype/phenotype correlations for specific genetic forms of Parkinson's disease. For example, we will assess if a particular age of onset, cardinal or secondary feature of PD or associated clinical course is associated with a given genotype.
Future Direction: Because 1) the larger sample base the greater the likelihood of the discovery of genes of minor effect and 2) discoveries of genetic risk factors require validation in additional sample series, it is likely that renewal of this protocol will be sought after five years.
Study Population: We aim to enroll a total of 2500 subjects over five years. These will include approximately 500 samples for the Mendelian studies (Specific Aim 1), and 2000 for association studies (Specific Aim 2). These estimates are based both on feasibility and on statistical power. Subjects will be evaluated at the NIH Clinical Center.
- Conditions
- Parkinson Disease, PD, Movement Disorder, Healthy Volunteer, HV
- Keywords
- Parkinson's Disease, Movement Disorders, Tremor, Alpha-Synuclein, Lewy Bodies, Parkinson Disease, PD, Movement Disorder, Healthy Volunteer, HV
- Medical subject headings
- Parkinson Disease, Movement Disorders, Tremor, Parkinson Disease 4, Autosomal Dominant Lewy Body
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2005 (estimated)
- Study startMar 2005
- Study completionNov 2005
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 DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)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
- Enrolment
- 2,500 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00105131
- Sponsor's protocol ID
- 050115
- Other IDs
- 05-N-0115
- Status last verified
- Nov 2005
- First submitted
- 5 Mar 2005
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045.
PubMed 9197268Kitada 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 9560156Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21.
PubMed 12446870
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Characterization of Parkinson's Disease
- ClinicalTrials.gov ID
- NCT00105131
- Acronym / sponsor ID
- 050115
- Conditions
- Parkinson Disease, PD, Movement Disorder, Healthy Volunteer, HV
- Keywords
- Parkinson's Disease, Movement Disorders, Tremor, Alpha-Synuclein, Lewy Bodies, Parkinson Disease, PD, Movement Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 2,500 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- Mar 2005
- Study completion
- Nov 2005
- First posted
- 7 Mar 2005 (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.
This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait.
Patients with Parkinson's disease, their relatives and healthy volunteers may be eligible for this study. Candidates must be 18 years of age or older. Patients whose parkinsonism is due to a secondary cause, such as infection or injury, and healthy volunteers who have a first degree family member (parent, grandparent, child, sibling) with Parkinson's disease are excluded from enrollment.
Participants are asked about possible symptoms they may have and about their general health. They provide a blood sample to obtain DNA for genetic analysis to look for genetic differences that might be related to risks for Parkinson's disease. White blood cells may be treated in the laboratory to grow a cell line, which provides a source of substances in the blood without having to draw samples repeatedly.
Detailed description
Parkinson's disease (PD) was noted to have a familial component as early as 1880. More recently, the discovery of several genetic factors influencing Parkinson's disease has emphasized the importance of heredity in PD.
Objective: The goal of this protocol will be to contribute to the genetic understanding of Parkinson's disease. Clinical data will be collected in order to document the features of Parkinson's disease in affected individuals (phenotyping). Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinson's disease (genotyping).
Design: The study design has two components. The first (aim 1) involves positional cloning for gene discovery in families with apparent Mendelian inheritance. The second (aim 2) will utilize an association study design, using genetic case-control methods for assessment of genetic risk factors. We will examine individuals affected by Parkinson's disease and their family members towards Specific Aim 1. Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinson's disease, and also, healthy adult volunteers who will be recruited as control subjects.
Outcome Measures:
Primary Outcome Measures for Specific Aim 1 are:
- The identification of new genes causal for Parkinson's disease.
- The identification of new mutations in known genes.
Primary Outcome Measures for Specific Aim 2 are:
- The discovery of gene variants which confer risk for Parkinson's disease.
- The validation of already reported polymorphisms as risk factors for PD.
Secondary Outcome Measures (both Specific Aims 1 and 2): Genotype/phenotype correlations for specific genetic forms of Parkinson's disease. For example, we will assess if a particular age of onset, cardinal or secondary feature of PD or associated clinical course is associated with a given genotype.
Future Direction: Because 1) the larger sample base the greater the likelihood of the discovery of genes of minor effect and 2) discoveries of genetic risk factors require validation in additional sample series, it is likely that renewal of this protocol will be sought after five years.
Study Population: We aim to enroll a total of 2500 subjects over five years. These will include approximately 500 samples for the Mendelian studies (Specific Aim 1), and 2000 for association studies (Specific Aim 2). These estimates are based both on feasibility and on statistical power. Subjects will be evaluated at the NIH Clinical Center.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Individuals with Parkinson's disease OR
- Family members of an individual diagnosed with Parkinson's disease OR
- Healthy adult controls obtained through the NIH Clinical Research Volunteers Program (CVRP) or other healthy control volunteers who come forward.
Key exclusion criteria (3 listed)
- Under the age of 18 years of age OR
- Individuals with Parkinsonism secondary to a specific cause such as toxin exposure, birth injury, head injury, or brain infection such as encephalitis.
- Healthy volunteers with a medical history or first degree family history of Parkinson's disease.
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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2008.
- Background: PubMed 9197268Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045.
- 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 12446870Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Disease and PD, run by National Institute of Neurological Disorders and Stroke (NINDS) 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 3 inclusion and 3 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: finished, as of the sponsor's last update on 4 Mar 2008. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 NCT00105131, 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 4 Mar 2008.