Featured Studies

Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and over time limits the ability of individuals to breathe. Researchers at the National Institutes of Health (NIH) are studying the infection, disease progression, and abnormal genes responsible for cystic fibrosis to better understand the disease process and its effects on breathing.

Researchers at the National Institutes of Health (NIH) are studying if the medication danazol can be used to treat people with short telomere disease who also have bone marrow failure, liver, or lung disease. In recent studies, danazol, at high doses, showed a positive influence on telomere length. Additional research is needed to learn more about the role of different doses of danazol on telomere disease as well as its effects on secondary diseases.

Researchers at the National Institutes of Health are conducting a research study to learn more about the motor skill and brain development of infants who are at high-risk for or diagnosed with Cerebral Palsy (CP) and Autism Spectrum Disorder (ASD) compared to infants with typical development. The results of this study may assist with better methods for early diagnosis as well as improved treatment for children with CP and ASD. The results of this study may eventually assist with better methods for early diagnosis as well as improved treatment for children with autism.

Fanconi anemia is a rare genetic disorder that mostly affects children and often leads to bone marrow failure. Researchers at the National Institutes of Health (NIH) are investigating a new drug to improve blood counts in individuals diagnosed with Fanconi anemia. Eltrombopag is an oral drug that mimics a special protein that causes the body to make more platelets. Currently eltrombopag is used to treat low platelet counts in patients with hepatitis C and chronic immune thrombocytopenic purpura (ITP). Researchers are evaluating if this new drug will improve blood cell counts in individuals diagnosed with Fanconi anemia.

Treatment of severe aplastic anemia (SAA) and myelodysplastic syndrome (MDS) usually involves a bone marrow transplant. Researchers at the National Institutes of Health (NIH) are testing ways to make transplant using unrelated donor cells from umbilical cord blood safer and more effective. We hope these procedures will reduce post-transplant complications and improve transplant outcomes.

Researchers at the National Institutes of Health (NIH) seek patients with Williams Syndrome (WS) or Supravalvular Aortic Stenosis (SVAS) to join a research study. Researchers want to see how blood vessel elasticity and stiffness affect the heart, gut, kidneys, and the brain in people with Williams Syndrome.

The National Institutes of Health (NIH) seeks healthy volunteers for a study about blood vessel stiffness. In this study, healthy volunteers will be compared with patients with rare genetic conditions that affect the blood vessels. All study-related procedures are provided at no cost and compensation is provided.

Researchers at the National Institutes of Health (NIH) seek participants age five and older with childhood-onset brain injury (e.g.,cerebral palsy) to join a research study. Near-infrared spectroscopy (NIRS) and/or electroencephalography (EEG) may be used to study brain activity. Learning how the brain controls muscles may help design treatments to help patients with brain injury to move better.

Researchers at the National Institutes of Health (NIH) are studying how infants' brains change as they learn new motor skills. Results may assist with better treatment methods for Cerebral Palsy.

Doctors at the National Institutes of Health (NIH) are conducting a research study to determine the viability and safety of early initiation of oral therapy with cyclosporine and eltrombopag in patients with severe aplastic anemia (SAA).