Welcome to the Chromosomal Disorders Studies Page

CURRENT STUDIES THAT MAY INTEREST YOU


22q11.2 Microdeletion Syndrome Brain Function and Structure Research Study – Ages 18-26

Have you been diagnosed with 22q11.2 microdeletion syndrome, also known as velocardiofacial syndrome or DiGeorge syndrome? Are you aged 18-26? You may be eligible to participate in a research study to help learn more about brain structure, brain function, and brain chemistry in young adults who have 22q11.2 microdeletion syndrome. Compensation provided.

Age Range
AGE:   18 - 26

Duration DURATION:  About 6 hours total
VISITS:  2-3 visits
Location LOCATION:  UPMC Western Psychiatric Institute and Clinic (WPIC) & UPMC Presbyterian Hospital - Oakland


MyPaTH Story Booth 2.0

Researchers want to know about patients’ experiences with health, illness, or research. By sharing your story, you would be helping researchers focus on topics that are of importance to you and that are likely to improve health and health care. Share your story by phone or in person at the Falk Medical Building lobby. Eligible participants must be able to read and understand English.

Age Range
AGE:   18 and Up

Duration DURATION:  45 minutes
VISITS:  1 visit or phone call
Location LOCATION:  Falk Medical Building - Oakland or by phone


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:  Convenient locations near you including Altoona, Monroeville, North Hills, Oakland, Philadelphia, Shadyside, the South Hills and more!


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


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


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



RELATED RESEARCH AREAS:
  Genetic Disorders

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