Case Studies of Rare Gene Variants Linked to Parkinson’s Disease
T
Tatiana Foroud
Primary Investigator
Enrolling By Invitation
18 years - 100 years
All
Phase
N/A
1 Location
Brief description of study
What is the purpose of this study?
Parkinson disease (PD) is s the second most common movement disorder, occurring in 1-3% of the population. It is a complex condition with varied symptomatology, age of onset, and rate of progression. Much has been learned about PD in the last several decades including increased understanding of what can cause PD to develop. Previously, it was though that there was little or no genetic contribution to PD development, but research has revealed that most cases involved a combination of factors, including environment, genetics, age, and lifestyle.
Studies have identified variants in several genes that increase the likelihood that an individual will develop PD. This understanding has led to more clinical trials testing new therapeutic approaches with genetic targets. More than ever, individuals are accessing genetic testing and learning their genetic status through research participation, clinical testing coordinated by their physician, or direct to consumer testing. From the prevalence of genetic testing, a growing portion of individuals have been identified as carrying rare PD variants. These rare variant carriers are not typically viewed as good candidates for clinical trials, however, they can be of great value in understanding the genetic contributions to PD.
Our team is seeking to identify individuals who carry rare PD variants and ask them to allow their genetic and health information to be used as part of a case study. It is possible that multiple individuals may be identified with the same rare PD variant and included in the same case study.
THIS STUDY IS ENROLLING BY INVITATION ONLY - The IU team works in collaboration with several sponsors of genetic PD research studies. From this work, our team may directly identify individuals who carry rare PD variants that would be valuable to include in a case study. Our team may also receive referrals for individuals who carry a rare PD variant from PD research study contacts. Due to the inherited nature of genes, biological family members of participant may also be asked to participate based on information provided by the participant.
Detailed description of study
What is Involved:
Eligible individuals who agree to genetic testing will be provided a saliva collection kit with a unique identification number and instructions for collecting the sample. These kits will include the following items:
- Saliva kit letter
- Instructions for providing saliva
- Pamphlet that answers questions regarding Coronavirus
- Saliva sample form to return with kit
- Saliva collection kit (prelabeled with a unique kit tracking number)
Individuals collecting their sample remotely will also be provided a return envelope and shipping label to return their kit to IU.
For More Information:
If you have any questions about this study, you may contact the study team at 888-830-6299 or pdnexus@iu.edu.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: all
-
Age: 18 years - 100 years
-
Gender: All
Inclusion criteria:
- Individuals with an identified rare PD variant through previous genetic testing
- Individuals with an increased risk for carrying a rare PD variant
- Individuals with a known family history of an identified rare PD variant
- Individuals who are ≥18 years old
Exclusion criteria:
- Individuals who are <18 years old
- Individuals who are unwilling to learn their genetic status
Updated on
13 Feb 2025.
Study ID: 13232, MMGE-IIR-RARE-GENE-VARIANTS
Please visit our main page to search for other studies you may be interested in.
If you need help finding a study or have any questions, please contact us at inhealth@iu.edu
