Welcome to the Chromosomal Disorders Studies Page

CURRENT STUDIES THAT MAY INTEREST YOU


Xtampza ER Study for Adults Who Have Difficulty Swallowing Pills

Do you take a prescribed opioid medication for chronic pain and are age 21-70? Do you have trouble swallowing pills? If so, you may be able to take part in a research study to find out if a pain medication called Xtampza ER is easier to swallow. Participants must be current patients of a UPMC Pain Medicine Clinic, or be willing to schedule an appointment with this clinic. Compensation provided.

Age Range
AGE:   21 - 70

Duration DURATION:  6 weeks
VISITS:  4 visits
Location LOCATION:  UPMC Pain Medicine Clinic - Centre Commons 5750 Centre Ave, Pittsburgh, PA 15206


Asteroid: Clinical study in Osteogenesis Imperfecta

Have you been diagnosed with osteogenesis imperfecta (OI)? If so, you may be eligible to participate in a study to help researchers learn the best dosage of a study drug to treat OI. Includes a pre-screening visit where your blood will be drawn and tested to be sure that you have the specific genetic mutation needed to be eligible for the full study.

Age Range
AGE:   18 and Up

Location LOCATION:  UPMC Children’s Hospital of Pittsburgh


Sleep Apnea After Tonsillectomy – Young Adults ages 18-21 with Down Syndrome

Adults aged 18-21 with Down syndrome who have sleep apnea after a tonsillectomy are needed for a research study. The purpose of this research study is to find out if a surgically implanted nerve stimulator called The Inspire® System is safe and effective in treating sleep apnea. Study involves at least 9 visits over 1 year.

Age Range
AGE:   18 - 21

Duration DURATION:  1 year
VISITS:  9 visits
Location LOCATION:  UPMC Children’s Hospital of Pittsburgh


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.

Age Range
AGE:   18 and Up

Duration VISITS:  one initial visit
Location LOCATION:  University Center, Aiken Medical Building, Monroeville Urgent Care, UPMC Montefiore CTRC & St. Clair Commons, Bethel Park


Neurodegeneration in Aging Down Syndrome (NiAD)

Adults with Down syndrome ages 25 and up needed to participate in a research study to help learn more about the risk and development of Alzheimer’s disease and dementia in people with Down syndrome. Participation involves four visits over a four year period. A caregiver must be present at each visit. Compensation provided.

Age Range
AGE:   25 and Up

Duration DURATION:  4 years
VISITS:  4 visits
Location LOCATION:  University of Pittsburgh


MyPaTH Story Booth

Researchers are looking for volunteers to share a personal story about their experience as an individual facing a health problem or accessing the health system. Individuals could also share their experience as a caregiver for someone who is ill.

Age Range
AGE:   18 and Up

Duration VISITS:  1 visit lasting 20 minutes
Location LOCATION:  Falk Medical Building (Oakland), or by phone


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.

Age Range
AGE:   18 and Up

Duration DURATION:  Varies
Location LOCATION:  UPMC Children’s Hospital of Pittsburgh - Lawrenceville


LOGIC Study for Adults with Cholestatic Liver Disease

Do you have a diagnosed or suspected cholestatic liver disease? Adults between the ages of 18 and 25 may be able to participate in a research study to learn more about the causes and long-term effects of certain cholestatic liver diseases. Compensation provided.

Age Range
AGE:   18 - 25

Duration DURATION:  10 years
VISITS:  1 visit per year

Location LOCATION:  UPMC Children’s Hospital of Pittsburgh


Genetic Causes of ADLD

Are you at least 18 years of age? Do you either have a genetic diagnosis of Autosomal Dominant Leukodystrophy (ADLD), or symptoms that fit ADLD but you have not yet undergone genetic testing, or do you have symptoms that fit ADLD but your genetic test for ADLD mutations turned out to be negative? If so, you may be eligible to participate in this study to help find the novel genetic causes of ADLD.

Age Range
AGE:   18 - 99



RELATED RESEARCH AREAS:
  Genetic Disorders

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