Hereditary Parkinson s Disease Natural History Protocol
| Status: | Completed |
|---|---|
| Conditions: | Parkinsons Disease, Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - 80 |
| Updated: | 3/7/2019 |
| Start Date: | July 28, 2015 |
| End Date: | August 15, 2017 |
Hereditary Parkinson's 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.
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.
- 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.
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.
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.
- INCLUSION CRITERIA
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.
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
EXCLUSION CRITERIA
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
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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