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.

All rare diseases

  • 18

    Sjogren’s syndrome

    Sjogren’s syndrome is a long-term autoimmune disease where the body’s immune system attacks the glands that produce moisture, leading to widespread dryness throughout the body, especially in the eyes and mouth.

  • 1

    Skin angiosarcoma

    Skin angiosarcoma is a rare and aggressive cancer that develops in the lining of blood vessels and lymph vessels, most commonly appearing on the head, neck, and scalp, often resembling a bruise that grows and changes over time.

  • 1

    Small intestine leiomyosarcoma

    Small intestine leiomyosarcoma is a rare and aggressive cancer that develops in the smooth muscle cells of the small bowel. Early diagnosis is challenging because the tumor grows slowly and may not cause symptoms until it reaches an advanced stage, making surgical removal the cornerstone of treatment.

  • 25

    Soft tissue sarcoma

    Soft tissue sarcoma is a rare type of cancer that starts in the body’s connective tissues, including muscles, fat, blood vessels, and nerves. Though these cancers can develop anywhere in the body, they most commonly appear in the arms, legs, and abdomen.

  • 3

    Splenic marginal zone lymphoma

    Splenic marginal zone lymphoma is a rare, slow-growing type of blood cancer that mainly affects the spleen, and while it often develops gradually without symptoms, it can usually be treated effectively with modern therapies.

  • 0

    Stevens-Johnson syndrome

    Stevens-Johnson syndrome is a rare but serious skin reaction that can threaten your life. It usually starts with symptoms similar to the flu, followed by a painful rash that spreads, blisters, and causes the skin to peel off. Most cases are triggered by medications, though infections can also be responsible.

  • 7

    Synovial sarcoma

    Synovial sarcoma is a rare soft tissue cancer that grows slowly and often goes unnoticed for years. While it most commonly affects young adults near large joints, it can appear almost anywhere in the body, making early detection challenging but crucial for better outcomes.

  • 1

    Synovial sarcoma metastatic

    Metastatic synovial sarcoma occurs when this rare, aggressive cancer spreads beyond its original location to other parts of the body, most commonly the lungs and lymph nodes, significantly impacting survival and treatment options.

  • 1

    Synovial sarcoma recurrent

    When synovial sarcoma returns after initial treatment, patients face new challenges that require careful multidisciplinary management and individualized treatment approaches.

  • 1

    Systemic sclerosis pulmonary

    Systemic sclerosis affecting the lungs is one of the leading causes of death in people with this rare autoimmune disease, occurring in approximately 35-65% of patients and accounting for 20-40% of all systemic sclerosis-related deaths.

  • 1

    Testicular leiomyosarcoma

    Testicular leiomyosarcoma is an extremely rare cancer that develops from smooth muscle cells in or around the testicle, affecting primarily middle-aged and older men, though cases in younger individuals have been documented without any known risk factors.

  • 3

    Thrombotic thrombocytopenic purpura

    Thrombotic thrombocytopenic purpura is a rare blood disorder that causes dangerous blood clots to form throughout the body, blocking blood flow to vital organs like the brain, kidneys, and heart. Without urgent treatment, this condition can be life-threatening, but with proper care, most people can recover and manage their health.

  • 1

    Toxic epidermal necrolysis

    Toxic epidermal necrolysis is a rare but extremely serious skin condition that causes large areas of skin to blister and peel away, leaving raw, painful wounds that resemble severe burns. This life-threatening reaction is usually triggered by certain medications and affects at least 30% of the body’s surface, including sensitive areas like the mouth, eyes, and genitals.

  • 8

    Tuberous sclerosis complex

    Tuberous sclerosis complex is a rare genetic disease that causes non-cancerous tumors to develop in multiple organs throughout the body, particularly in the brain, kidneys, heart, skin, and lungs. While some people live with few symptoms, others may experience seizures, developmental delays, and serious organ complications that require lifelong monitoring and care.

  • 5

    Turner’s syndrome

    Turner’s syndrome is a genetic condition that affects only females, occurring when one of the X chromosomes is partially or completely missing. While there is no cure, early diagnosis and treatment can help girls and women with this condition lead healthy, productive lives.

  • 1

    Undifferentiated sarcoma

    Undifferentiated sarcoma is a rare type of cancer that develops in the body’s connective tissues, often affecting the arms, legs, or abdomen. This aggressive disease requires prompt diagnosis and a combination of treatments to give patients the best chance of recovery.

  • 1

    Urea cycle disorder

    Urea cycle disorder is a group of rare genetic conditions that prevent the body from removing toxic ammonia from the blood. When ammonia builds up, it can cause serious brain damage and affect organ function, making these disorders life-threatening without proper treatment.

  • 3

    Usher’s syndrome

    Usher’s syndrome is a rare genetic condition that affects both hearing and vision, and is the most common cause of combined deafness and blindness.

  • 2

    Uterine leiomyosarcoma

    Uterine leiomyosarcoma is a rare and aggressive cancer that develops in the muscle wall of the uterus, accounting for only 2% to 5% of all uterine cancers. Despite often being discovered in early stages, this challenging disease requires specialized treatment and long-term monitoring.

  • 1

    Vascular malformation

    Vascular malformations are abnormal changes in blood vessels that are usually present from birth, though they may not become visible until childhood or even adulthood. These conditions can affect any blood vessel in the body and range from harmless birthmark-like marks to serious problems requiring treatment.

  • 3

    VEXAS syndrome

    VEXAS syndrome is a rare and serious condition that causes the immune system to attack the body by mistake, leading to widespread inflammation and blood problems. Discovered only in 2020, this condition primarily affects men over 50 and is caused by a genetic mutation that happens during life, not one inherited from parents.

  • 2

    Wiskott-Aldrich syndrome

    Wiskott-Aldrich syndrome is a rare genetic condition that disrupts the immune system, causes dangerous bleeding problems, and leads to persistent eczema. Without proper treatment, this inherited disorder can become life-threatening, but modern medical advances offer hope through stem cell transplantation and gene therapy.

  • 2

    Wolfram syndrome

    Wolfram syndrome is a rare genetic condition that damages multiple body systems over time, usually beginning with diabetes and vision problems in childhood and progressing to affect the brain and other organs.

  • 1

    X-linked lymphoproliferative syndrome

    X-linked lymphoproliferative syndrome is a rare genetic disorder that affects how the immune system responds to infections, particularly the Epstein-Barr virus. This condition primarily affects males and can lead to serious, life-threatening complications if left untreated.