Research Horizons


Where Rare Isn’t So Rare: Clinical Sites Provide Specialized Care for Rare Disease Patients

Rare Diseases Clinical Research Network logo

When a child is diagnosed with a rare disease, caregivers often search for a place where they can receive specialized care. At these places, rare diseases aren’t so rare—they are examined and studied every day.

For many patients and families, that place is Cincinnati Children’s. We host several clinical sites within the National Institutes of Health-funded Rare Diseases Clinical Research Network (RDCRN), a national network of physicians, researchers, patients, and advocates working together to advance medical research on rare diseases. 

From all over the world, patients and families travel to our clinics for cutting-edge care. Here, clinicians are not only familiar with rare diseases—they are experts paving the way for better treatments, outcomes, and cures. 

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Currently, Cincinnati Children’s hosts four RDCRN clinical sites—specializing in brain vascular malformations, eosinophilic gastrointestinal disorders, developmental synaptopathies, and primary immune deficiencies—as well as the network’s Data Management and Coordinating Center, which facilitates network operations and research.

Brain Vascular Malformation Consortium (BVMC)

“We see pediatric as well as adult patients, and we are a destination center for providers outside of Cincinnati Children’s. Our involvement in the RDCRN allows expertise on the disease topic and leadership in clinical research participation.”

Sudhakar Vadivelu, DO

Our Experts: 
  • Adrienne Hammill, MD, PhD; research director, Hemangioma & Vascular Malformation Program; director, HHT Center of Excellence; director, Sturge-Weber Center/Clinical Care Network
  • Sudhakar Vadivelu, DO; director, Cerebrovascular Disease and Stroke Center
Diseases We Study: 
  • Cerebral cavernous malformations (CCM), abnormally enlarged spaces in the brain where blood collects near irregularly shaped, enlarged capillaries (tiny blood vessels) which have abnormally thin walls prone to leaking; symptoms include headaches, seizures, paralysis, hearing or vision loss, and cerebral hemorrhaging (brain bleeds)
  • Hereditary hemorrhagic telangiectasia (HHT), a disorder categorized into 3 types in which blood flows from high pressured arteries directly into low pressured veins (arteriovenous malformations) instead of going through capillaries which act as a pressure buffer; symptoms include tissue irritation, frequent nosebleeds, hemorrhaging, and visible red markings (telangiectasias)
  • Sturge-Weber syndrome (SWS), a condition resulting in abnormal blood vessel development in the brain, eyes, and skin at birth; symptoms include migraines, seizures, vision problems, and hemiparesis (temporary one-sided muscle weakness)
Current Studies: 

Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)

“CEGIR provides unparalleled access to a large database of pathology data of a rare disease. We have participated in studies with meaningful results that would not have been possible without CEGIR.”

—Margaret Collins, MD 

Our Experts: 
Diseases We Study: 
Current Studies: 

Developmental Synaptopathies Consortium (DSC)

“Pediatric neurology continues to be a medical specialty where discoveries and new treatments are exploding. This is particularly true for many rare genetic diseases, which I focus on in my clinical practice and research.”

—Darcy Krueger, MD, PhD 

Our Expert: 
Diseases We Study: 
  • Tuberous sclerosis complex, a genetic condition in which typically benign tumors affect multiple organs including the brain, kidneys, heart, lungs, eyes, and skin; symptoms include skin abnormalities, seizures, developmental delay, intellectual disability, and renal failure 
  • Phelan-McDermid syndrome, a disorder caused by loss of a portion of chromosome 22 near its end at a location designated q13.3; symptoms include hypotonia (low muscle tone), global developmental delay, intellectual disability, motor skills delay, delayed or absent speech, mild facial dysmorphism (abnormal structure), seizures, and autism spectrum disorder (ASD)
  • PTEN hamartoma tumor syndrome, a spectrum of disorders characterized by the widespread presence of multiple hamartomas (localized, benign, tumor-like malformations) which contain a mixture of mature cells and tissue; affected individuals may have an increased risk for certain cancers and neurodevelopmental disorders
Current Studies: 

Primary Immune Deficiency Treatment Consortium (PIDTC)

“Our physicians not only provide state-of-the-art treatment for patients, but they also lead the field with primary immune deficiency research and new treatment trials.”

—Rebecca Marsh, MD 

Our Experts: 
  • Jacob “Jack” Bleesing, MD, PhD; co-director, Diagnostic Immunology Laboratories; associate director, Immunodeficiency and Histiocytosis Program 
  • Rebecca Marsh, MD; clinical director, Primary Immune Deficiency Program; co-director, Diagnostic Immunology Laboratories; clinical director, HLH Center of Excellence
Diseases We Study: 
Current Studies: 

Learn more about the RDCRN.

Read about the RDCRN Data Management and Coordinating Center at Cincinnati Children’s. 

The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). Now in its fourth five-year funding cycle, RDCRN is a partnership with funding and programmatic support provided by Institutes, Centers, and Offices across NIH, including the National Institute of Neurological Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health, and the Office of Dietary Supplements.