Welcome to the Chromosomal Disorders Studies Page
Are you a woman ages 18-45 who has been diagnosed with Von Willebrand Disease (VMD)? Do you suffer from heavy menstrual bleeding (also called menorrhagia)? If so, you may be able to participate in a study to evaluate how well two different treatments for VMD work. This study involves 4 visits over 24 weeks (includes blood draws). Compensation is provided.
Have you been diagnosed with symptomatic transthyretin amyloid cardiomyopathy (also called familial amyloid cardiomyopathy or ATTR-CM)? If so, you may be eligible to participate in a research study to help find out if an investigational drug called AG10 is a safe and effective treatment for people who have symptomatic ATTR-CM. Compensation provided.
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.
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.
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.
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.
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.
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.
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.
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.
