Pelger-Huet anomaly
MONDO:0008214An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Also known as: Pelger-Huet anomaly, PHA, Pelger Huet anomaly, Pelger-Huet nuclear anomaly, ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
2 clinical trials for this condition and its sub-types, 0 tagged with Pelger-Huet anomaly itself.
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800-Patient registry maps the hidden path of rare muscle and heart gene disorders
Knowledge-focused Recruiting nowLaminopathies and emerinopathies are rare disorders caused by mutations in the LMNA or EMD genes, often affecting skeletal muscles and the heart. Researchers at French hospitals are building a registry of 800 patients with confirmed mutations to record detailed genetic, neurologi…
Sponsor: Pitié-Salpêtrière Hospital • Aim: Knowledge-focused
Last updated Sep 21, 2026 13:00 UTC
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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
Knowledge-focused Recruiting nowThis study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC