Welcome to the Chromosomal Disorders Studies Page

CURRENT STUDIES THAT MAY INTEREST YOU

MyPaTH Story Booth 2.0

Interested in sharing your story about health, illness, or research? Patients and caregivers are needed to participate in a research study to help learn more about topics that are important to you and that may improve health and health care. Participation involves one 45-minute session that takes place over the phone. Eligible participants must be able to read and understand English.

ACL Tear

DURATION: 45 minutes

VISITS: 1 visit or phone call

LOCATION: By phone

COMPENSATION: Up to $20

NO IN-PERSON VISITS

MyPaTH Story Booth – COVID-19 Stories

Participants are invited to share how they are maintaining their health during the coronavirus pandemic, or to share what it is like being ill with COVID-19 and/or caring for a loved one who is ill with COVID-19. Participation in this research study involves one 45-minute session that takes place over the phone. Eligible participants must be able to read and understand English.

DURATION: About 45 minutes

VISITS: No in-person visits

LOCATION: By phone

COMPENSATION: $10 gift card/story with a maximum of 2 stories, for a total of $20

ABC-DS: Siblings of Individuals with Down syndrome

Are you the sibling of an individual age 25 or older who has Down syndrome? You may be able to participate in a study to identify those things that can predict which adults with Down syndrome are most likely to develop Alzheimer’s disease. Siblings with Down syndrome should be willing and able to participate in the study. Study participation will last 5-6 years. Compensation is provided.

Chromosomal Disorders

Family Health

Healthy Volunteer

AGE: 25 and up

DURATION: 5-6 years

VISITS: Up to 4 visits over the course of the study

LOCATION: UPMC Western Psychiatric Hospital, UPMC Western Behavioral Health, & UPMC Presbyterian Hospital – Oakland

COMPENSATION: Up to $1200

ABC-DS: Participants with Down syndrome

Do you have Down syndrome? You may be able to participate in a study to identify those things that can predict which adults with Down syndrome are most likely to develop Alzheimer’s disease. Eligible participants must have a “study partner” who knows them well and is willing to provide information about their medical status and abilities. Compensation is provided.

Alzheimer's Disease

Chromosomal Disorders

Family Health

AGE: 25 and up

DURATION: 5-6 years

VISITS: Up to 4 visits over the course of the study

LOCATION: UPMC Western Psychiatric Hospital, UPMC Western Behavioral Health, & UPMC Presbyterian Hospital – Oakland

COMPENSATION: Up to $1400

All of Us Pennsylvania Research Program

You may be able to change the future of medicine. The All of Us PA Research Program is enrolling adults 18 years of age or older. This may be your chance to improve how your children and your children’s children receive medical care.

VISITS: one in person visit

LOCATION: Convenient locations throughout Pennsylvania

COMPENSATION: $25.00 gift card

The Parkinson's Progression Markers Initiative (PPMI)

Were you diagnosed with Parkinson’s disease (PD) in the last two years and are not currently taking standard PD medications? You may be able to participate in a research study to help better understand how Parkinson’s disease progresses over time. Study participation involves having physical exams, undergoing brain scans, and providing biological samples. Compensation is provided.

Chromosomal Disorders

Featured Research

Parkinson's Disease

AGE: 30 and up

DURATION: At least 5 years

LOCATION: Kaufmann Building – Oakland & Online

COMPENSATION: $100 - Screening visit; $200 - Baseline visit; $200 per annual visit

NO IN-PERSON VISITS

Decentralized Biobanking "de-bi": An app for tracking research donations

Are you 18 and older and interested what happens to the tumor/tissue/blood you donate for research? This research project is developing an app for those who want to track or learn about their biosample donations and studying patient preferences for feedback about research on their biosamples.

DURATION: 10 minute survey

VISITS: Online survey

LOCATION: Online

COMPENSATION: NONE

Genomic Approaches to Recurrent Pregnancy Loss Study

Are you a woman between the ages of 18 and 37 who has experienced a pregnancy loss? You may be able to participate in a study that hopes to better understand the genetic basis of recurrent pregnancy loss.

Chromosomal Disorders

SEX ASSIGNED AT BIRTH: Female

DURATION: 2 Days

LOCATION: Oakland

COMPENSATION: NONE

Spinal Cord Stimulation for the treatment of motor deficits in people with Spinal Muscular Atrophy

Are you affected by Spinal Muscular Atrophy? You may be able to participate in a research study using spinal cord stimulation (SCS), an approved clinical therapy for pain syndromes that do not respond to drugs. Unexpectedly, SCS has shown the ability to promote the recovery of leg motor function in people with complete motor paralysis in consequence of spinal cord injury years after injury.

DURATION: 9 months

VISITS: 35 visits

LOCATION: UPMC Presbyterian

COMPENSATION: $1750

The VWD-Woman Study

Do you have von Willebrand disease and are pregnant? You may be able to participate in a study to examine the effectiveness of two different approaches to reduce blood loss at delivery. Participation involves 5 visits over 8 weeks. Compensation is provided.

Chromosomal Disorders

Other Blood/Lymphatic System

Pregnancy and Postpartum Health

AGE: 18 and up

SEX ASSIGNED AT BIRTH: Female

DURATION: 8 weeks

VISITS: 5

LOCATION: Hemophilia Center of Western PA & UPMC Magee-Womens Hospital

COMPENSATION: Up to $400

Biliary Atresia Study

Are you age 18 or older with a diagnosis of biliary atresia? Have you had the Kasai procedure (surgery to improve bile flow)? If so, you may be able to participate in a research study to learn more about the long term health of patients who have had the Kasai procedure. Participation by parents is voluntary. Compensation for transportation provided.

Chromosomal Disorders

Liver Disease

Other Digestive System

Other Genetic Disorders

AGE: 18 and up

DURATION: Varies

LOCATION: UPMC Children’s Hospital of Pittsburgh - Lawrenceville

COMPENSATION: Yes

RELATED RESEARCH AREAS:

Genetic Disorders