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 “l”
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Langerhans cell sarcoma
Langerhans cell sarcoma is a rare and aggressive cancer that develops from specialized immune cells called Langerhans cells, which normally help protect the body from infection. Unlike the related but less serious condition called Langerhans cell histiocytosis, this disease shows clearly malignant features and often affects multiple parts of the body.
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Langerhans’ cell histiocytosis
Langerhans’ cell histiocytosis is a rare disorder where a specific type of immune cell builds up in the body, potentially causing tissue damage and tumors in various organs. While it primarily affects children, the disease can occur at any age and ranges from mild conditions that resolve on their own to severe forms requiring intensive treatment.
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Leiomyosarcoma
Leiomyosarcoma is a rare and aggressive cancer that develops in smooth muscles found in various organs throughout the body. While it can grow quickly and spread to other tissues, early detection and treatment offer the possibility of recovery.
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Leiomyosarcoma metastatic
Metastatic leiomyosarcoma is an aggressive cancer that has spread from its original site to other parts of the body. While this advanced stage presents serious challenges, understanding the disease, treatment options, and survival factors can help patients and their families navigate this difficult journey.
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Leiomyosarcoma recurrent
Recurrent leiomyosarcoma is when this aggressive cancer returns after initial treatment, presenting challenges for patients and their medical teams. Understanding recurrence patterns, treatment options, and factors that influence survival can help patients navigate this difficult journey.
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Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is a severe form of childhood epilepsy that causes multiple types of seizures, developmental delays, and lasting disabilities. While there is no cure, various treatments can help control symptoms and improve quality of life.
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Leukoencephalopathy
Leukoencephalopathy refers to disorders affecting the white matter of the brain, the tissue that protects nerve cells and helps them communicate. These conditions can range from rare viral infections in people with weakened immune systems to inherited genetic disorders that progressively damage the brain’s protective coating.
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Loeys-Dietz syndrome
Loeys-Dietz syndrome is a genetic condition that affects the body’s connective tissue, causing problems with blood vessels, bones, skin, and other body parts. This disorder can lead to serious complications, especially in the heart and blood vessels, but with proper diagnosis and care, many people with the condition can live full lives.
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Lymphangioma
Lymphangioma is a rare, noncancerous fluid-filled cyst that typically appears in newborns and young children, most commonly on the head or neck. These growths develop when the lymphatic system doesn’t form properly during fetal development, causing fluid to collect under the skin.
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Lymphangiosarcoma
Lymphangiosarcoma is a rare and aggressive cancer that develops in people with long-standing swelling of the lymph nodes, most commonly affecting the arms. This serious condition requires prompt diagnosis and treatment, though its rarity means it is less well-known than many other cancers.
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Lymphatic malformation
Lymphatic malformations are clusters of abnormal lymph vessels that form fluid-filled cysts under the skin or within body tissues. These noncancerous growths develop before birth and most commonly appear on the head and neck, though they can occur anywhere in the body except the brain.
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Lysosomal storage disorder
Lysosomal storage disorders are rare genetic conditions where the body’s cells cannot properly break down fats, sugars, and other substances, leading to a toxic buildup that can damage organs throughout the body.


