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
27 clinical trials for this condition and its sub-types.
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Broader categories
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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: PHASE3 • Sponsor: X4 Pharmaceuticals • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New shot aims to help kids with rare heart-muscle disease move easier
Disease control Recruiting nowThis study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…
Phase: PHASE4 • Sponsor: Stealth BioTherapeutics Inc. • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Milder chemo before stem cell transplant shows promise for rare blood disorders
Disease control Recruiting nowThis study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…
Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Milder transplant method aims to help young patients with rare blood diseases
Disease control Recruiting nowThis study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…
Phase: PHASE2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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Can home tests replace lab draws for rare disease patients?
Diagnosis Recruiting nowThis study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…
Sponsor: Connecticut Children's Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 13:01 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 Aug 18, 2026 06:00 UTC
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Worldwide data pool could pave the way for mitochondrial disease trials
Knowledge-focused Recruiting nowThis study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …
Sponsor: LMU Klinikum • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Scientists launch deep dive into rare genetic disease
Knowledge-focused Recruiting nowThis study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 UTC
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Massive eye gene bank aims to unlock secrets of rare blindness
Knowledge-focused Recruiting nowThis study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 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
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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders
Knowledge-focused Recruiting nowThis study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC