Parkinson Disease 6, Early-OnsetNCT02511015
Hereditary Parkinson s Disease Natural History Protocol
An observational study of Parkinson Disease 6, Early-Onset and Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Background: Parkinson s disease is a disease of the nervous system that affects movement. People usually get it in their 70s or 80s. Early onset Parkinson s disease (EOPD) begins before the age of 50. Researchers think EOPD may be caused by a mutation in a gene. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset
- How many people
- 31 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Jul 2015to 15 Aug 2017
- 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
- No healthy volunteers
- Adult, Older adult
Study population: Subjects that develop symptoms of Parkinson Disease within the first 5 decades of life would be enrolled onto this protocol. Additionally, subjects previously enrolled on protocol 12-H-0084 may also be enrolled on this protocol. Age (+/- 5 yrs) and gender matched healthy volunteers will be recruited as controls for this protocol. Controls will be recruited via web advertisements. An email advertisement will also be sent out via the NIH LISTSERV to aid in the recruitment of healthy volunteers. A list of healthy volunteers may also be requested from the NIH Office of Patient Recruitment. Family member controls without clinical evidence of Parkinsonism may be recruited as controls for index research subjects.
Who may be able to join
- Parkinson's Subjects
- Age 18 years to 80 years old with a history of early onset Parkinson's disease or Parkinsonism (Presentation within the first five decades of life).
- Healthy Control Subjects
- Age 18 years to 80 years old with no history or family history of Parkinson's disease or Parkinsonism.
- Family Member Control Subjects
- -Family members, of enrolled EOPD subjects, who themselves do not have Parkinson's disease or Parkinsonism can be enrolled as controls on this study.
Show all 9Show fewer
- All Subjects
- Willingness and legal ability to give and sign informed study consent
- Willingness to have blood or tissue samples studied, and potentially stored for future research
Who cannot join
- All Subjects
- Subjects who are unable or unwilling to sign an informed consent
- Subjects with genetic defects associated with diseases including other neurologic syndromes.
- Pregnancy
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Hereditary Parkinson Disease Natural History Protocol
Background:
- Parkinson s disease is a disease of the nervous system that affects movement. People usually get it in their 70s or 80s. Early onset Parkinson s disease (EOPD) begins before the age of 50. Researchers think EOPD may be caused by a mutation in a gene. They want to study the genetic causes so they can find therapies for this disease.
Read more
Objective:
- To better understand the genetic causes of EOPD.
Eligibility:
- Adults ages 18 80 with a history of EOPD. Their family members, who do not have Parkinson s disease, can join as controls.
- Healthy volunteers ages 18 80.
Design:
- Participants with EOPD and their relatives will be screened with a review of medical records. Healthy volunteers will have medical history, physical exam, and blood drawn.
- Relatives may send blood samples to NIH to test for mutations in genes that are linked to Parkinson s disease. They may have a physical exam.
- Participants may be asked to return to clinic for another visit that can last up to 2 hours.
- During this visit, participants will have blood taken from a vein in the arm via a needle stick.
- Participants may give a sample of their skin. The skin on the arm or leg will be numbed and a small skin punch biopsy will be taken with a special needle.
- Some cells from the blood or skin sample may be grown in a lab to establish cell lines. The cells may also potentially be genetically modified to make stem cells.
- Researchers may perform genetic analysis on the samples to compare them to EOPD patient samples.
Read the detailed description
The majority of subjects with the degenerative Parkinson's Disease (PD) present in the 7th and 8th decades of life. In contrast, this neurologic disease can present within the first 5 decades of life. This early onset presentation is more likely to have a direct genetic cause relative to the etiology of the degenerative form of the disease. Our understanding of the genetic causes of early onset Parkinson's Disease (EOPD) may help us find therapies for both the genetic and degenerative illnesses. Data from our laboratory and others show that genetic mutations associated with EOPD, disrupt cellular stress-response programs. These perturbations, in turn, impair cell-repair process, which is hypothesized to increase susceptibility to dopaminergic neuron degeneration linked to EOPD and degenerative PD. At the same time, patients with EOPD have a variable age of onset (spanning from 8 years to 41 years in the subjects in our cohort) and disease penetrance (severity of symptoms). The hypothesis we propose to test is whether the number and allele distributions of EOPD susceptibility gene mutations account for the variable age of onset and disease penetrance. This hypothesis will be tested in this natural history protocol by genotyping subjects with EOPD to define their genetic defects and to explore the cellular reparative function in these individuals using peripheral blood cells, skin biopsy derived fibroblasts and induced pluripotential stems cells derived from these subjects. In parallel, the phenotype of these subjects will be evaluated by the NINDS Parkinson's Clinic. Together, these data should advance our insight into the genotype-phenotype in EOPD pathophysiology.
- Conditions
- Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
- Keywords
- Early Onset Parkinson's Disease, Cellular Quality Control Programs, Mitochondria, Neuroinflammation, Immunology, Natural History
- Medical subject headings
- Parkinson Disease 6, Autosomal Recessive Early-Onset, Parkinson Disease, Parkinsonian Disorders, Neuroinflammatory Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Family Member Control Subjects | Family members, of enrolled EOPD subjects, who themselves do not have Parkinson disease or Parkinsonism can be enrolled as controls on this study. | |
| Healthy Control Subjects | Age 18 years to 80 years old with no history or family history of Parkinson disease or Parkinsonism. | |
| Parkinson Subjects | Age 18 years to 80 years old with a history of early onset Parkinson disease or Parkinsonism (Presentation within the first five decades of life). |
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary objective of this study is to genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopamine...
genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopaminergic stressors.
Measured: 5 years
Secondary outcomes (1)
The secondary objective is to evaluate whether these composite of these genetic defects and their effects on cellular quality control correlate to age of onset and disease penetrance in EOPD subjects.
The secondary objective is to evaluate whether these composite of these genetic defects and their effects on cellular quality control correlate to age of onset and disease penetrance in EOPD subjects.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2015 (estimated)
- Study start8 Jul 2015
- Primary completion7 Apr 2016
- Study completion15 Aug 2017
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 Disease 6, Early-OnsetStudies 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
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Derek P Narendra, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02511015
- Sponsor's protocol ID
- 150155
- Other IDs
- 15-H-0155
- Status last verified
- 16 Sep 2026
- First submitted
- 28 Jul 2015
- Last updated
- 13 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007 Jul;6(7):652-62. doi: 10.1016/S1474-4422(07)70174-6.
PubMed 17582365Greenamyre 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 15155938Arbuthnott GW, Wickens J. Space, time and dopamine. Trends Neurosci. 2007 Feb;30(2):62-9. doi: 10.1016/j.tins.2006.12.003. Epub 2006 Dec 13.
PubMed 17173981
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hereditary Parkinson Disease Natural History Protocol
- ClinicalTrials.gov ID
- NCT02511015
- Acronym / sponsor ID
- 150155
- Conditions
- Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
- Keywords
- Early Onset Parkinson's Disease, Cellular Quality Control Programs, Mitochondria, Neuroinflammation, Immunology, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 8 Jul 2015 (actual)
- Primary completion
- 7 Apr 2016 (actual)
- Study completion
- 15 Aug 2017 (actual)
- First posted
- 29 Jul 2015 (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:
- Parkinson s disease is a disease of the nervous system that affects movement. People usually get it in their 70s or 80s. Early onset Parkinson s disease (EOPD) begins before the age of 50. Researchers think EOPD may be caused by a mutation in a gene. They want to study the genetic causes so they can find therapies for this disease.
Objective:
- To better understand the genetic causes of EOPD.
Eligibility:
- Adults ages 18 80 with a history of EOPD. Their family members, who do not have Parkinson s disease, can join as controls.
- Healthy volunteers ages 18 80.
Design:
- Participants with EOPD and their relatives will be screened with a review of medical records. Healthy volunteers will have medical history, physical exam, and blood drawn.
- Relatives may send blood samples to NIH to test for mutations in genes that are linked to Parkinson s disease. They may have a physical exam.
- Participants may be asked to return to clinic for another visit that can last up to 2 hours.
- During this visit, participants will have blood taken from a vein in the arm via a needle stick.
- Participants may give a sample of their skin. The skin on the arm or leg will be numbed and a small skin punch biopsy will be taken with a special needle.
- Some cells from the blood or skin sample may be grown in a lab to establish cell lines. The cells may also potentially be genetically modified to make stem cells.
- Researchers may perform genetic analysis on the samples to compare them to EOPD patient samples.
Detailed description
The majority of subjects with the degenerative Parkinson's Disease (PD) present in the 7th and 8th decades of life. In contrast, this neurologic disease can present within the first 5 decades of life. This early onset presentation is more likely to have a direct genetic cause relative to the etiology of the degenerative form of the disease. Our understanding of the genetic causes of early onset Parkinson's Disease (EOPD) may help us find therapies for both the genetic and degenerative illnesses. Data from our laboratory and others show that genetic mutations associated with EOPD, disrupt cellular stress-response programs. These perturbations, in turn, impair cell-repair process, which is hypothesized to increase susceptibility to dopaminergic neuron degeneration linked to EOPD and degenerative PD. At the same time, patients with EOPD have a variable age of onset (spanning from 8 years to 41 years in the subjects in our cohort) and disease penetrance (severity of symptoms). The hypothesis we propose to test is whether the number and allele distributions of EOPD susceptibility gene mutations account for the variable age of onset and disease penetrance. This hypothesis will be tested in this natural history protocol by genotyping subjects with EOPD to define their genetic defects and to explore the cellular reparative function in these individuals using peripheral blood cells, skin biopsy derived fibroblasts and induced pluripotential stems cells derived from these subjects. In parallel, the phenotype of these subjects will be evaluated by the NINDS Parkinson's Clinic. Together, these data should advance our insight into the genotype-phenotype in EOPD pathophysiology.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Family Member Control Subjects | – | –Family members, of enrolled EOPD subjects, who themselves do not have Parkinson disease or Parkinsonism can be enrolled as controls on this study. |
| Healthy Control Subjects | – | –Age 18 years to 80 years old with no history or family history of Parkinson disease or Parkinsonism. |
| Parkinson Subjects | – | –Age 18 years to 80 years old with a history of early onset Parkinson disease or Parkinsonism (Presentation within the first five decades of life). |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Subjects that develop symptoms of Parkinson Disease within the first 5 decades of life would be enrolled onto this protocol. Additionally, subjects previously enrolled on protocol 12-H-0084 may also be enrolled on this protocol. Age (+/- 5 yrs) and gender matched healthy volunteers will be recruited as controls for this protocol. Controls will be recruited via web advertisements. An email advertisement will also be sent out via the NIH LISTSERV to aid in the recruitment of healthy volunteers. A list of healthy volunteers may also be requested from the NIH Office of Patient Recruitment. Family member controls without clinical evidence of Parkinsonism may be recruited as controls for index research subjects.
Key inclusion criteria (9 listed)
- Parkinson's Subjects
- Age 18 years to 80 years old with a history of early onset Parkinson's disease or Parkinsonism (Presentation within the first five decades of life).
- Healthy Control Subjects
- Age 18 years to 80 years old with no history or family history of Parkinson's disease or Parkinsonism.
- Family Member Control Subjects
Key exclusion criteria (4 listed)
- All Subjects
- Subjects who are unable or unwilling to sign an informed consent
- Subjects with genetic defects associated with diseases including other neurologic syndromes.
- Pregnancy
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
The primary objective of this study is to genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopamine...
Time frame: 5 years
genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopaminergic stressors.
1 secondary outcome
The secondary objective is to evaluate whether these composite of these genetic defects and their effects on cellular quality control correlate to age of onset and disease penetrance in EOPD subjects.
Time frame: 5 years
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 13 Oct 2026.
- Background: PubMed 17582365Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007 Jul;6(7):652-62. doi: 10.1016/S1474-4422(07)70174-6.
- 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 17173981Arbuthnott GW, Wickens J. Space, time and dopamine. Trends Neurosci. 2007 Feb;30(2):62-9. doi: 10.1016/j.tins.2006.12.003. Epub 2006 Dec 13.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Derek P Narendra, 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 Disease 6, Early-Onset and Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, 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 9 inclusion and 4 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 13 Oct 2026. 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.
What does the primary outcome measure?
The primary objective of this study is to genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopamine... (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02511015, 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 13 Oct 2026.