Parkinson Disease
Conditions
Brief summary
The research study is being conducted to compare methods of virtual genetic counseling for people with Parkinson's disease.
Detailed description
This research will evaluate different virtual methods of pre-test genetic counseling and post-test genetic results disclosure in people with Parkinson's disease. Participants will be randomized to receive different methods of genetic counseling using web-based, telephone, or telehealth methods. In both pre- and post-test counseling phases, remote genetic counseling methods will be compared to demonstrate equivalence. The primary outcomes will be equivalence on genetics knowledge and outcomes scales, and the revised impact of events scale. The purpose is to develop effective and scalable approaches to genetic counseling. This work is crucial for patient safety and will improve access to care through novel genetic counseling approaches.
Interventions
OTHERIMAGINE-PD
The Interactive, Multimedia Approach to Genetic Counseling to INform and Educate in Parkinson's Disease (IMAGINE-PD) is a novel, interactive, web-based, audiovisual, self-guided, genetic counseling tool in the development phase. Essential genetic counseling themes, outlined by a senior certified clinical genetics counselor in accordance with national guidelines, are presented in a web-based format, utilizing videos, text, pictures, and audio. Participants can interact with IMAGINE-PD at their own pace, with the ability to move backward and forward, repeat sections, and have the ability to submit questions to the genetic counselor via e-mail.
OTHERVirtual genetic counseling
The virtual visits will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. The counseling visit will be conducted in real-time on an established and secure audiovisual conferencing telemedicine platform (BlueJeans) within the Penn Chart/Epic electronic medical record dashboard.
The telephone counseling will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors.
Sponsors
University of Pennsylvania
Study design
Allocation
RANDOMIZED
Intervention model
FACTORIAL
Primary purpose
OTHER
Masking
NONE
Intervention model description
Enrolled participants will be randomized into one of 4 groups based on pre- and post-genetic test counseling: (1)IMAGINE-PD/Virtual, (2)IMAGINE-PD/Telephone, (3)Virtual/Virtual, and (4)Virtual/Telephone.
Eligibility
Sex/Gender
ALL
Age
21 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Provision of signed and dated informed consent form * Stated willingness to have clinical confirmation genetic testing, and comply with all study procedures and availability for the duration of the study * Male or female, over the age of 21. * English Speaking
Exclusion criteria
* Prior genetic counseling and/or clinical testing specifically for Parkinson's disease * Montreal Cognitive Assessment (MoCA) \< 21, or a prior diagnosis of dementia during the screening phase
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetics Knowledge | 4 weeks after pre-testing education/counseling | Genetics Knowledge Scale (20-question true/false questionnaire, score range 0-20, higher scores mean greater knowledge) |
| Genetic Counseling Satisfaction (Post-Test) | Immediately after disclosure counseling | Genetic Counseling Satisfaction Scale (GCSS) (6-item scale, score range 6-30, higher scores mean greater satisfaction) |
| Test-Related Distress | 3 months after disclosure counseling | Revised Impact of Events Scale (22-item, score range 0-88, higher scores mean greater event-related distress) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| State-Trait Anxiety Index -State Score | 6 months after disclosure counseling | State-Trait Anxiety Index -State Score (STAI-S, 20-item, min score 20/max score 80, higher means greater anxiety). 20 items of the full STAI scale that includes 40 items are predefined according to the validated scale. |
| State-Trait Anxiety Index -Trait Score | 3 months after disclosure counseling | State-Trait Anxiety Index -Trait Score (STAI-T, 20-item, min score 20/max score 80, higher means greater anxiety). 20 items of the full STAI scale that includes 40 items are predefined according to the validated scale. |
| Depression | 3 months after disclosure counseling | Geriatric Depression Scale (GDS, 15-item score range 0-15, higher means greater depression) |
| Test-Related Distress | 6 months after disclosure counseling | Revised Impact of Events Scale (22-item, score range 0-88, higher scores mean greater event-related distress) |
| Quality of Life in Parkinson's Disease | 3 months after disclosure counseling | Parkinsons disease quality of life scale- 39 (PDQ39). The PDQ-39 is a disease-specific health status measure that assess multiple dimensions of daily living. It is a validated, self-report measure for people with PD. Score range is from 0-100, with higher scores indicating a worse quality of life. |
| Genetic Counseling Satisfaction (Pre-Test) | Immediately after pre-test education/counseling | Genetic Counseling Satisfaction Scale (GCSS) (6-item scale, score range 6-30, higher scores mean greater satisfaction) |
| State-Trait Anxiety Index-State Score | 3 months after disclosure counseling | State-Trait Anxiety Index -State Score (STAI-S, 20-item, min score 20/max score 80, higher means greater anxiety). 20 of the total 40 items included in the State Score are predefined according to the validated scale. |
Countries
United States
Participant flow
Recruitment details
Eligible participants from UPenn's Parkinson's Disease and Movement Disorders Center's Molecular Integration in Neurological Diagnosis (MIND) Initiative who were 21 years old or older, willing to complete confirmatory genetic testing, willing to learn their genetic test results, and had access to a telephone, computer, and videoconferencing device. Key exclusion criteria were prior genetic counseling for PD, prior diagnosis of dementia, or scored \<21 on the Montreal Cognitive Assessment (MoCA).
Pre-assignment details
A factorial design schema was used for group randomization based on pre-test education or counseling (i.e., IMAGINE-PD or Virtual) and post-test counseling (i.e. Telephone or Virtual) modalities. All randomized participants were included in an intention-to-treat (ITT) analysis. A per protocol (PP) analysis defined a subset of participants with data for all 3 primary outcome variables (i.e., completed visit 3 for genetic counseling satisfaction, genetics knowledge, and test-related distress).
Participants by arm
| Arm | Count |
|---|---|
| IMAGINE-PD/Virtual Pre-test genetic counseling through the Interactive Multimedia Approach to Genetic counseling to INform and Educate in Parkinson's Disease (IMAGINE-PD) website. Genetic results disclosure via virtual visit with a genetic counselor.
IMAGINE-PD: The Interactive, Multimedia Approach to Genetic Counseling to INform and Educate in Parkinson's Disease (IMAGINE-PD) is a novel, interactive, web-based, audiovisual, self-guided, genetic counseling tool in the development phase. Essential genetic counseling themes, outlined by a senior certified clinical genetics counselor in accordance with national guidelines, are presented in a web-based format, utilizing videos, text, pictures, and audio. Participants can interact with IMAGINE-PD at their own pace, with the ability to move backward and forward, repeat sections, and have the ability to submit questions to the genetic counselor via e-mail.
Virtual genetic counseling: The virtual visits will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. The counseling visit will be conducted in real-time on an established and secure audiovisual conferencing telemedicine platform (BlueJeans or Zoom). | 94 |
| IMAGINE-PD/Telephone Pre-test genetic counseling through the Interactive Multimedia Approach to Genetic counseling to INform and Educate in Parkinson's Disease (IMAGINE-PD) website. Genetic results disclosure via telephone with a genetic counselor.
IMAGINE-PD: The Interactive, Multimedia Approach to Genetic Counseling to INform and Educate in Parkinson's Disease (IMAGINE-PD) is a novel, interactive, web-based, audiovisual, self-guided, genetic counseling tool in the development phase. Essential genetic counseling themes, outlined by a senior certified clinical genetics counselor in accordance with national guidelines, are presented in a web-based format, utilizing videos, text, pictures, and audio. Participants can interact with IMAGINE-PD at their own pace, with the ability to move backward and forward, repeat sections, and have the ability to submit questions to the genetic counselor via e-mail.
Telephone genetic counseling: The telephone counseling will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. | 91 |
| Virtual/Telephone Pre-test genetic counseling virtual visit with a genetic counselor. Genetic results disclosure via telephone with a genetic counselor.
Virtual genetic counseling: The virtual visits will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. The counseling visit will be conducted in real-time on an established and secure audiovisual conferencing telemedicine platform (BlueJeans or Zoom).
Telephone genetic counseling: The telephone counseling will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. | 92 |
| Virtual/Virtual Pre-test genetic counseling and genetic results disclosure via virtual visit with a genetic counselor.
Virtual genetic counseling: The virtual visits will be conducted by a certified genetic counselor to provide all counseling in accordance with guidelines set forth by the National Society of Genetic Counselors. The counseling visit will be conducted in real-time on an established and secure audiovisual conferencing telemedicine platform (BlueJeans or Zoom). | 93 |
| Total | 370 |
Withdrawals & dropouts
| Period | Reason | FG000 | FG001 | FG002 | FG003 |
|---|---|---|---|---|---|
| Overall Study | Adverse Event | 0 | 0 | 1 | 0 |
| Overall Study | Death | 0 | 1 | 1 | 0 |
| Overall Study | Ineligible after randomization | 2 | 0 | 2 | 2 |
| Overall Study | Lost to Follow-up | 13 | 9 | 16 | 13 |
| Overall Study | Moved to a different group | 6 | 3 | 0 | 2 |
| Overall Study | Withdrawal by Subject | 12 | 15 | 7 | 16 |
Baseline characteristics
| Characteristic | Total | Virtual/Virtual | IMAGINE-PD/Virtual | Virtual/Telephone | IMAGINE-PD/Telephone |
|---|---|---|---|---|---|
| Age, Continuous | 69 years | 70 years | 70 years | 68 years | 68 years |
| Baseline Genetics Knowledge (GKS) total | 17 units on a scale | 16 units on a scale | 16 units on a scale | 17 units on a scale | 17 units on a scale |
| Baseline Geriatric Depression Scale (GDS) total | 3 units on a scale | 3 units on a scale | 3 units on a scale | 2 units on a scale | 2 units on a scale |
| Baseline Montreal Cognitive Assessment (MoCA) total | 27 units on a scale | 26 units on a scale | 27 units on a scale | 27 units on a scale | 27 units on a scale |
| Baseline Parkinsons Disease Questionnaire-39 (PDQ-39) item summary index (PDQ-39) | 19 units on a scale | 19 units on a scale | 20 units on a scale | 18 units on a scale | 18 units on a scale |
| Baseline State-Trait Anxiety Scale (STAI)-state | 36 units on a scale | 36 units on a scale | 36 units on a scale | 36 units on a scale | 37 units on a scale |
| Baseline State Trait Anxiety Scale (STAI)-trait | 34 units on a scale | 35 units on a scale | 35 units on a scale | 34 units on a scale | 34 units on a scale |
| Disease Duration | 7 years | 7 years | 6 years | 7 years | 6 years |
| Education Associate | 58 Participants | 15 Participants | 12 Participants | 17 Participants | 14 Participants |
| Education Bachelor | 126 Participants | 28 Participants | 34 Participants | 30 Participants | 34 Participants |
| Education Graduate | 156 Participants | 39 Participants | 44 Participants | 39 Participants | 34 Participants |
| Education HS | 18 Participants | 5 Participants | 2 Participants | 4 Participants | 7 Participants |
| Education < HS | 3 Participants | 2 Participants | 1 Participants | 0 Participants | 0 Participants |
| Education Missing | 9 Participants | 4 Participants | 1 Participants | 2 Participants | 2 Participants |
| Genetic Screening Result Negative | 303 Participants | 82 Participants | 80 Participants | 71 Participants | 70 Participants |
| Genetic Screening Result Positive | 67 Participants | 11 Participants | 14 Participants | 21 Participants | 21 Participants |
| PD family history No/Unk/Missing | 220 Participants | 56 Participants | 61 Participants | 54 Participants | 49 Participants |
| PD family history Yes | 150 Participants | 37 Participants | 33 Participants | 38 Participants | 42 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Asian | 7 Participants | 3 Participants | 2 Participants | 2 Participants | 0 Participants |
| Race (NIH/OMB) Black or African American | 6 Participants | 1 Participants | 3 Participants | 0 Participants | 2 Participants |
| Race (NIH/OMB) More than one race | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 8 Participants | 4 Participants | 1 Participants | 2 Participants | 1 Participants |
| Race (NIH/OMB) White | 349 Participants | 85 Participants | 88 Participants | 88 Participants | 88 Participants |
| Region of Enrollment United States | 370 participants | 93 participants | 94 participants | 92 participants | 91 participants |
| Sex: Female, Male Female | 131 Participants | 26 Participants | 44 Participants | 29 Participants | 32 Participants |
| Sex: Female, Male Male | 239 Participants | 67 Participants | 50 Participants | 63 Participants | 59 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk | EG003 affected / at risk |
|---|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 94 | 1 / 91 | 1 / 92 | 0 / 93 |
| other Total, other adverse events | 83 / 94 | 82 / 91 | 78 / 92 | 83 / 93 |
| serious Total, serious adverse events | 0 / 94 | 0 / 91 | 0 / 92 | 0 / 93 |
Outcome results
Primary
Genetic Counseling Satisfaction (Post-Test)
Genetic Counseling Satisfaction Scale (GCSS) (6-item scale, score range 6-30, higher scores mean greater satisfaction)
Time frame: Immediately after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Genetic Counseling Satisfaction (Post-Test) | 24 score on a scale |
| IMAGINE-PD/Telephone | Genetic Counseling Satisfaction (Post-Test) | 25 score on a scale |
| Virtual/Telephone | Genetic Counseling Satisfaction (Post-Test) | 25 score on a scale |
| Virtual/Virtual | Genetic Counseling Satisfaction (Post-Test) | 26 score on a scale |
Primary
Genetics Knowledge
Genetics Knowledge Scale (20-question true/false questionnaire, score range 0-20, higher scores mean greater knowledge)
Time frame: 4 weeks after pre-testing education/counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Genetics Knowledge | 16 score on a scale |
| IMAGINE-PD/Telephone | Genetics Knowledge | 17 score on a scale |
| Virtual/Telephone | Genetics Knowledge | 17 score on a scale |
| Virtual/Virtual | Genetics Knowledge | 16 score on a scale |
Primary
Test-Related Distress
Revised Impact of Events Scale (22-item, score range 0-88, higher scores mean greater event-related distress)
Time frame: 3 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Test-Related Distress | 0 score on a scale |
| IMAGINE-PD/Telephone | Test-Related Distress | 1 score on a scale |
| Virtual/Telephone | Test-Related Distress | 0 score on a scale |
| Virtual/Virtual | Test-Related Distress | 0 score on a scale |
Secondary
Depression
Geriatric Depression Scale (GDS, 15-item score range 0-15, higher means greater depression)
Time frame: 3 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Depression | 3 score on a scale |
| IMAGINE-PD/Telephone | Depression | 3 score on a scale |
| Virtual/Telephone | Depression | 2.5 score on a scale |
| Virtual/Virtual | Depression | 3 score on a scale |
Secondary
Depression
Geriatric Depression Scale (GDS, 15-item score range 0-15, higher means greater depression)
Time frame: 6 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Depression | 3 score on a scale |
| IMAGINE-PD/Telephone | Depression | 3 score on a scale |
| Virtual/Telephone | Depression | 3 score on a scale |
| Virtual/Virtual | Depression | 3 score on a scale |
Secondary
Genetic Counseling Satisfaction (Pre-Test)
Genetic Counseling Satisfaction Scale (GCSS) (6-item scale, score range 6-30, higher scores mean greater satisfaction)
Time frame: Immediately after pre-test education/counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Genetic Counseling Satisfaction (Pre-Test) | 22 score on a scale |
| IMAGINE-PD/Telephone | Genetic Counseling Satisfaction (Pre-Test) | 23 score on a scale |
| Virtual/Telephone | Genetic Counseling Satisfaction (Pre-Test) | 24 score on a scale |
| Virtual/Virtual | Genetic Counseling Satisfaction (Pre-Test) | 25 score on a scale |
Secondary
Quality of Life in Parkinson's Disease
Parkinsons disease quality of life scale- 39 (PDQ39). The PDQ-39 is a disease-specific health status measure that assess multiple dimensions of daily living. It is a validated, self-report measure for people with PD. Score range is from 0-100, with higher scores indicating a worse quality of life.
Time frame: 6 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Quality of Life in Parkinson's Disease | 20.99 score on a scale |
| IMAGINE-PD/Telephone | Quality of Life in Parkinson's Disease | 15.31 score on a scale |
| Virtual/Telephone | Quality of Life in Parkinson's Disease | 17.79 score on a scale |
| Virtual/Virtual | Quality of Life in Parkinson's Disease | 19.22 score on a scale |
Secondary
Quality of Life in Parkinson's Disease
Parkinsons disease quality of life scale- 39 (PDQ39). The PDQ-39 is a disease-specific health status measure that assess multiple dimensions of daily living. It is a validated, self-report measure for people with PD. Score range is from 0-100, with higher scores indicating a worse quality of life.
Time frame: 3 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Quality of Life in Parkinson's Disease | 21.41 score on a scale |
| IMAGINE-PD/Telephone | Quality of Life in Parkinson's Disease | 15.83 score on a scale |
| Virtual/Telephone | Quality of Life in Parkinson's Disease | 16.56 score on a scale |
| Virtual/Virtual | Quality of Life in Parkinson's Disease | 18.44 score on a scale |
Secondary
State-Trait Anxiety Index -State Score
State-Trait Anxiety Index -State Score (STAI-S, 20-item, min score 20/max score 80, higher means greater anxiety). 20 items of the full STAI scale that includes 40 items are predefined according to the validated scale.
Time frame: 6 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | State-Trait Anxiety Index -State Score | 35 score on a scale |
| IMAGINE-PD/Telephone | State-Trait Anxiety Index -State Score | 36 score on a scale |
| Virtual/Telephone | State-Trait Anxiety Index -State Score | 34.5 score on a scale |
| Virtual/Virtual | State-Trait Anxiety Index -State Score | 36 score on a scale |
Secondary
State-Trait Anxiety Index-State Score
State-Trait Anxiety Index -State Score (STAI-S, 20-item, min score 20/max score 80, higher means greater anxiety). 20 of the total 40 items included in the State Score are predefined according to the validated scale.
Time frame: 3 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | State-Trait Anxiety Index-State Score | 35 score on a scale |
| IMAGINE-PD/Telephone | State-Trait Anxiety Index-State Score | 36 score on a scale |
| Virtual/Telephone | State-Trait Anxiety Index-State Score | 35 score on a scale |
| Virtual/Virtual | State-Trait Anxiety Index-State Score | 36 score on a scale |
Secondary
State-Trait Anxiety Index -Trait Score
State-Trait Anxiety Index -Trait Score (STAI-T, 20-item, min score 20/max score 80, higher means greater anxiety). 20 items of the full STAI scale that includes 40 items are predefined according to the validated scale.
Time frame: 6 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | State-Trait Anxiety Index -Trait Score | 34 score on a scale |
| IMAGINE-PD/Telephone | State-Trait Anxiety Index -Trait Score | 34 score on a scale |
| Virtual/Telephone | State-Trait Anxiety Index -Trait Score | 35 score on a scale |
| Virtual/Virtual | State-Trait Anxiety Index -Trait Score | 35 score on a scale |
Secondary
State-Trait Anxiety Index -Trait Score
State-Trait Anxiety Index -Trait Score (STAI-T, 20-item, min score 20/max score 80, higher means greater anxiety). 20 items of the full STAI scale that includes 40 items are predefined according to the validated scale.
Time frame: 3 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | State-Trait Anxiety Index -Trait Score | 34 score on a scale |
| IMAGINE-PD/Telephone | State-Trait Anxiety Index -Trait Score | 33 score on a scale |
| Virtual/Telephone | State-Trait Anxiety Index -Trait Score | 38 score on a scale |
| Virtual/Virtual | State-Trait Anxiety Index -Trait Score | 34 score on a scale |
Secondary
Test-Related Distress
Revised Impact of Events Scale (22-item, score range 0-88, higher scores mean greater event-related distress)
Time frame: 6 months after disclosure counseling
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| IMAGINE-PD/Virtual | Test-Related Distress | 0 score on a scale |
| IMAGINE-PD/Telephone | Test-Related Distress | 0 score on a scale |
| Virtual/Telephone | Test-Related Distress | 0 score on a scale |
| Virtual/Virtual | Test-Related Distress | 0 score on a scale |