Ignite Creation Date:
2024-05-06 @ 7:19 AM
Last Modification Date:
2024-10-26 @ 11:47 AM
Study NCT ID:
NCT02511015
Status:
COMPLETED
Last Update Posted:
2023-10-24
First Post:
2015-07-28
Brief Title:
Hereditary Parkinson s Disease Natural History Protocol
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Hereditary Parkinson Disease Natural History Protocol
Status:
COMPLETED
Status Verified Date:
2024-10-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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
Detailed Description:
The majority of subjects with the degenerative Parkinsons 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 Parkinsons 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 Parkinsons Clinic Together these data should advance our insight into the genotype-phenotype in EOPD pathophysiology
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 15-H-0155 | None | None | None |