Explore rare diseases in clinical trials

Check which rare diseases are currently being frequently studied.

See also our popular diseases glossary and drug database.

Starting by letter

To open the rare diseases glossary, select a letter from the list below.

Rare diseases starting with “c”

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    CADASIL

    CADASIL is a rare inherited disorder that affects the blood vessels in the brain, causing symptoms that can include migraine headaches, strokes, and changes in memory and thinking. Understanding this condition can help patients and families navigate the challenges it presents.

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    Carcinoid syndrome

    Carcinoid syndrome is a rare condition that occurs when certain tumors release large amounts of hormones and other chemicals into your bloodstream, causing a range of uncomfortable and sometimes serious symptoms that can significantly affect your daily life.

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    Castleman’s disease

    Castleman’s disease is a rare group of disorders where the immune system becomes overactive, leading to enlarged lymph nodes and, in some forms, widespread inflammation that can damage vital organs throughout the body.

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    Cerebral arteriovenous malformation haemorrhagic

    A cerebral arteriovenous malformation is an abnormal tangle of blood vessels in the brain that can rupture and cause life-threatening bleeding, affecting people of all ages but most commonly diagnosed in those between 20 and 50 years old.

  • 1

    Cholangitis sclerosing

    Primary sclerosing cholangitis is a rare liver disease where inflammation causes scarring and narrowing of the bile ducts, eventually leading to serious liver damage. While many people show no symptoms at first, the disease progresses slowly over 10 to 15 years and can result in liver failure and increased cancer risk.

  • 2

    Chondrosarcoma

    Chondrosarcoma is a rare type of bone cancer that begins in cartilage, the connective tissue protecting joints and bones. It grows slowly in most cases, but certain types can be aggressive and difficult to treat. Understanding the symptoms, causes, and treatment options is essential for anyone affected by this condition.

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    Chondrosarcoma metastatic

    Chondrosarcoma with metastatic disease represents a serious form of bone cancer where the tumor has spread beyond its original location to other parts of the body, most commonly the lungs and other bones, presenting significant challenges for treatment and survival.

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    Chordoma

    Chordoma is a rare type of bone cancer that grows slowly but can be very difficult to treat because it develops in delicate areas near the spine and skull, close to critical structures like the brain, spinal cord, and major blood vessels.

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    Choroid melanoma

    Choroid melanoma is the most common cancer that develops inside the adult eye, yet it remains a rare condition that often goes unnoticed until detected during a routine eye examination.

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    Chronic granulomatous disease

    Chronic granulomatous disease is a rare genetic condition that weakens the immune system’s ability to fight certain infections, leaving people vulnerable to serious bacterial and fungal infections throughout their lives.

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    Combined immunodeficiency

    Combined immunodeficiencies are a group of rare genetic disorders that affect both major types of infection-fighting white blood cells, making it difficult for the body to defend itself against infections.

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    Congenital generalised lipodystrophy

    Congenital generalised lipodystrophy is a rare inherited condition where a child is born with almost no body fat. This severe lack of fat tissue causes the body to store fat in places it shouldn’t, leading to serious health problems including diabetes, liver disease, and heart complications.

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    Congenital hypotransferrinaemia

    Congenital hypotransferrinaemia is an extremely rare blood disorder that creates a puzzling medical paradox: patients suffer from severe anemia while simultaneously accumulating dangerous amounts of iron in their organs.

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    Congenital nephrogenic diabetes insipidus

    Congenital nephrogenic diabetes insipidus is a rare inherited disorder where the kidneys cannot respond properly to a natural hormone, causing the body to produce large amounts of dilute urine and leading to excessive thirst and the risk of severe dehydration.

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    Crigler-Najjar syndrome

    Crigler-Najjar syndrome is a rare inherited condition where the liver cannot properly break down bilirubin, a substance produced when red blood cells are broken down. This leads to a dangerous buildup in the body that can cause serious brain damage if not treated promptly.

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    Cystic fibrosis

    Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the body, affecting the lungs, digestive system, and other organs. While there is no cure yet, advances in treatment have dramatically improved life expectancy, with many people now living into their 50s, 60s, and beyond.

  • 3

    Cystic fibrosis lung

    Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and other organs, leading to breathing difficulties and frequent infections that require lifelong management and care.

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    Cytokine release syndrome

    Cytokine release syndrome is a serious inflammatory response that happens when your immune system releases too many signaling proteins into your bloodstream, causing widespread inflammation that can damage organs and tissues throughout the body.