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Active Clinical Studies

A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two types of clinical studies: clinical trials and observational studies.

DCEG carries out observational studies mostly in families with a known or suspected cancer predisposition syndrome, or families that have a higher-than-expected rate of cancer. In an observational study, investigators assess health outcomes in groups of participants according to a protocol or research plan. In this case, individuals and families agree to share information about their medical history and other information in order to expand our understanding of how cancer aggregates in families. Although some participants are seen at the NIH Clinical Center, DCEG clinical studies do not evaluate treatment or other interventions, as in a clinical trial.

To enroll or inquire about our active clinical studies, contact the research team by phone at 800-518-8474 or by email at

Atypical Spitzoid Tumor Study 
Investigating novel inherited gene variants that contribute to the development of atypical spitzoid tumors in children, adolescents, and young adults.

Familial Chordoma Study
Chordoma is a rare bone cancer that develops at the base of the skull, in a vertebra, or at end of the spine. DCEG investigators are studying families with multiple relatives with chordoma.

Familial Blood and Lymph Node Cancers Study
DCEG investigators have been studying the causes of familial blood and lymph node cancers for over 30 years. Ongoing advances in genetics, anticipated applications of advanced technologies, and data from families have allowed research efforts to expand.

Familial Chronic Lymphocytic Leukemia Study
DCEG investigators are studying families with multiple cases of chronic lymphocytic leukemia (CLL), the most common leukemia in adults in the Western Hemisphere.

Familial Melanoma Studies
DCEG researchers are searching for melanoma susceptibility genes in melanoma-prone families.

Inherited Bone Marrow Failure Syndromes
The inherited bone marrow failure syndromes (IBMFS) are a group of rare genetic blood disorders. DCEG investigators are leading a clinical study to better understand how cancers develop in persons with IBMFS.

Li-Fraumeni Syndrome Study
Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder that leads to a higher risk of certain cancers. NCI has evaluated families with LFS since the syndrome was first recognized in 1969. DCEG is now expanding this research through a clinical study and participation in a multi-institutional collaboration.

Pleuropulmonary Blastoma DICER1 Cancer Predisposition Syndrome
Pleuropulmonary blastoma (PPB) is a rare tumor of the lung. Research has shown that PPB may be part of an inherited cancer predisposition syndrome caused by changes in a gene known as DICER1. The PPB Cancer Study is an observational study of children with PPB and their families.

Psychosocial Effects of Cancer Predisposition Syndromes 
The Clinical Genetics Branch investigates and defines best practices of medical, psychosocial, and genetic counseling, as well as risk assessment and communication, to counsel and care for at-risk individuals and families.

RASopathies Study
A RASopathy syndrome is a condition or disorder caused by changes in genes that send signals across the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. The RASopathies Study is a clinical study that aims to better understand the development of tumors in patients with a RASopathy syndrome.

Waldenström's Macroglobulinemia Study
Waldenström's macroglobulinemia (WM) is a rare type of tumor that belongs to a group of disorders called lymphoproliferative diseases. DCEG researchers are leading a study to determine what causes WM to sometimes develop in two or more family members.

Read more about the public health impact of family studies.