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Laminopathy
MONDO:0021106A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
19 clinical trials for this condition and its sub-types.
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Scientists dive into rare cholesterol disorders to uncover clues
Knowledge-focused CompletedThis study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Researchers investigate Cortisol's role in rare fat disorder
Knowledge-focused CompletedThis study looked at how the body processes cortisol in people with a rare genetic condition called familial partial lipodystrophy type 2 (FPL2). The goal was to see if increased activity of a certain enzyme (11β-HSD1) contributes to the severe metabolic problems seen in this dis…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC