Severe congenital neutropenia
MONDO:0018542Also known as: SCN, Severe Chronic Neutropenia, neutropenia, severe congenital
8 clinical trials for this condition and its sub-types, 5 tagged with Severe congenital neutropenia itself.
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Browse by category →Sub-types of Severe congenital neutropenia
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Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types
6 sub-types
- Kostmann syndrome 3 trials
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 trials
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 trials
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3 sub-types
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New drug aims to boost immune cells in rare blood disorder
Disease control Recruiting nowThis Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…
Phase 3 • Sponsor: X4 Pharmaceuticals • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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Massive study aims to uncover cancer secrets in rare bone marrow diseases
Knowledge-focused Recruiting nowThis natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Massive gene hunt aims to unlock secrets of blood disorders
Knowledge-focused Recruiting nowThis study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC
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New registry aims to unlock secrets of rare bone marrow disease
Knowledge-focused Recruiting nowThis study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC