Constitutional neutropenia
MONDO:0015134A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
Also known as: congenital neutropenia, genetic infantile agranulocytosis, infantile genetic agranulocytosis, Kostmann disease, Kostmann neutropenia, Kostmann syndrome
28 clinical trials for this condition and its sub-types, 2 tagged with Constitutional neutropenia itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Constitutional neutropenia
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Chediak-Higashi syndrome 9 trials
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Severe congenital neutropenia 5 trials · 8 incl. sub-types
8 sub-types
- Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types Sub-types →
- Neutropenia, severe congenital, 8, autosomal dominant 1 trial
- X-linked severe congenital neutropenia 0 trials
- Autosomal dominant severe congenital neutropenia 0 trials Sub-types →
- Neutropenia, severe congenital, 10, autosomal recessive 0 trials
- Neutropenia, severe congenital, 11, autosomal dominant 0 trials
- Neutropenia, severe congenital, 12, autosomal recessive 0 trials
- Neutropenia, severe congenital, 9, autosomal dominant 0 trials
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Barth syndrome 5 trials
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WHIM syndrome 1 4 trials
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Glycogen storage disease Ib 3 trials
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Cohen syndrome 1 trial
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Griscelli syndrome type 2 1 trial
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Cyclic hematopoiesis 1 trial
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Hermansky-Pudlak syndrome 2 0 trials
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Lichtenstein syndrome 0 trials
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Poikiloderma with neutropenia 0 trials
Most studied deeper sub-types
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Could a stem cell drug tame rare immune disease?
Disease control CompletedThis early-phase study tests whether Mozobil, a drug already used to boost stem cells for transplants, can safely raise white blood cell counts in people with WHIMS. WHIMS is a rare genetic condition that traps infection-fighting cells in the bone marrow, leading to frequent infe…
Phase 1/2 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Sep 21, 2026 20:00 UTC
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Experimental drug aims to boost immunity in rare WHIM syndrome
Disease control CompletedThis phase 3 trial tests whether mavorixafor can raise neutrophil levels in people with WHIM syndrome, a rare genetic condition that weakens the immune system. Participants receive either mavorixafor or a placebo to see if the drug helps maintain infection-fighting white blood ce…
Phase 3 • Sponsor: X4 Pharmaceuticals • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
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Rare disease drug shows promise in reducing infections
Disease control CompletedThis study tested two drugs, plerixafor and G-CSF, in 20 people with WHIM syndrome, a rare genetic condition that causes frequent infections and warts. Participants received each drug for a year and tracked their infections. The goal was to see which drug better reduced infection…
Phase 2/3 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Jun 28, 2026 00:00 UTC
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New drug combo shows promise for kids with rare immune disease
Disease control CompletedThis study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…
Phase 1/2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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Scientists hunt for hidden genes behind rare childhood disease
Knowledge-focused CompletedThis study looked for new genes that cause a rare condition called syndromic congenital neutropenia, where children are born with low infection-fighting white blood cells and other developmental issues. Researchers used advanced gene sequencing on 25 participants to find the gene…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:01 UTC