Congenital hematological disorder
MONDO:0009332A disorder of the blood that is present at birth.
Also known as: congenital haematological system disease, congenital hematological disorder, congenital hematological system disease
101 clinical trials for this condition and its sub-types, 1 tagged with Congenital hematological disorder itself.
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Sub-types of Congenital hematological disorder
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Congenital anemia 0 trials · 58 incl. sub-types
8 sub-types
- Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
- Congenital nonspherocytic hemolytic anemia 1 trial · 12 incl. sub-types Sub-types →
- Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
- Congenital dyserythropoietic anemia type 1 1 trial Sub-types →
- Congenital dyserythropoietic anemia type 2 1 trial
- Congenital dyserythropoietic anemia type 3 0 trials
- Congenital dyserythropoietic anemia type 4 0 trials
- Severe congenital hypochromic anemia with ringed sideroblasts 0 trials
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Constitutional neutropenia 2 trials · 28 incl. sub-types
13 sub-types
- Chediak-Higashi syndrome 9 trials
- Severe congenital neutropenia 5 trials · 8 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- WHIM syndrome 1 4 trials
- Glycogen storage disease Ib 3 trials
- Cohen syndrome 1 trial
- Griscelli syndrome type 2 1 trial
- Cyclic hematopoiesis 1 trial
- Hermansky-Pudlak syndrome 2 0 trials
- Lichtenstein syndrome 0 trials
- Neutropenia-monocytopenia-deafness syndrome 0 trials
- Poikiloderma with neutropenia 0 trials
- Primary immunodeficiency syndrome due to p14 deficiency 0 trials
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Congenital vitamin K-dependent coagulation factors deficiency 0 trials · 4 incl. sub-types
5 sub-types
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GNE myopathy 3 trials
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Congenital factor XII deficiency 1 trial
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Congenital agammaglobulinemia 0 trials
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Congenital analbuminemia 0 trials
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Congenital factor XI deficiency 0 trials
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Congenital factor XIII deficiency 0 trials
2 sub-types
- Factor XIII, A subunit, deficiency of 0 trials
- Factor XIII, b subunit, deficiency of 0 trials
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Congenital secondary polycythemia 0 trials
2 sub-types
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2 sub-types
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Sulfhemoglobinemia, congenital 0 trials
Most studied deeper sub-types
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Can a Two-Drug immune attack shrink Hard-to-Treat pancreatic tumors?
Disease control Not yet recruitingThis phase 2 trial is testing whether combining two immunotherapy drugs—vilastobart and retifanlimab—can shrink tumors in people with metastatic pancreatic cancer that has a BRCA1, BRCA2, or PALB2 gene mutation. Participants receive both drugs by IV infusion over several months. …
Phase 2 • Sponsor: Massachusetts General Hospital • Aim: Disease control
Last updated Aug 16, 2026 00:00 UTC
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New injection aims to curb bleeding in rare clotting disorder
Disease control Not yet recruitingThis phase II trial tests an injected drug called SR604 in people with congenital Factor VII deficiency, a rare bleeding disorder. The goal is to see if SR604 can reduce the number of bleeding episodes and improve safety. The study includes 12 participants aged 12 to 65 who have …
Phase 2 • Sponsor: Shanghai RAAS Blood Products Co., Ltd. • Aim: Disease control
Last updated Jul 19, 2026 00:00 UTC
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Could a stem cell shot before birth fix fanconi anemia?
Disease control Not yet recruitingThis early-phase trial tests whether giving healthy stem cells from the mother to a fetus diagnosed with Fanconi anemia can safely improve the baby's blood cell production. The treatment is a one-time injection into the fetus during pregnancy. The study will enroll 12 pregnant wo…
Phase 1/2 • Sponsor: Agnieszka Czechowicz • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Could vitamin c tame anemia? early trial tests high doses in rare blood disorders
Disease control Not yet recruitingThis early-stage study tests whether high-dose Vitamin C is safe for people with two rare inherited blood disorders—Pyruvate Kinase Deficiency (PKD) and a form of G6PD deficiency. Both conditions cause red blood cells to break down too quickly, leading to anemia. The study will e…
Phase 1 • Sponsor: University of Utah • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC
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Could your own stem cells fight this rare brain disorder?
Disease control Not yet recruitingThis study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…
Phase 2 • Sponsor: Biocells Medical • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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New hope for rare anemias: drug may cut transfusions
Disease control Not yet recruitingThis Phase 2 trial tests the drug luspatercept (Reblozyl) in 45 people with rare inherited anemias that affect red blood cells. The goal is to see if it can reduce the need for blood transfusions in those who depend on them, or raise hemoglobin levels in those who don't. Particip…
Phase 2 • Sponsor: EuroBloodNet Association • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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A 5-Day genetic test could slash time to transplant for children with rare immune disease
Diagnosis Not yet recruitingThis trial tests whether a new ultra-rapid genetic test, using third-generation sequencing, can diagnose familial lymphohistiocytosis (FHL) in children within 5 days instead of the usual 6-8 weeks. FHL is a rare, life-threatening genetic condition where the immune system attacks …
Sponsor: Assistance Publique Hopitaux De Marseille • Aim: Diagnosis
Last updated Aug 05, 2026 00:00 UTC
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A simple brush could spot mouth cancer early in fanconi anaemia patients
Diagnosis Not yet recruitingPeople with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…
Sponsor: Institut Jean-Godinot • Aim: Diagnosis
Last updated Jun 27, 2026 07:58 UTC
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Can a common antipsychotic keep cannabis users out of the ER?
Symptom relief Not yet recruitingThis trial tests whether giving patients a prescription for haloperidol to use as needed at home can help control symptoms of cannabinoid hyperemesis syndrome — a condition marked by severe nausea, vomiting, and abdominal pain from heavy cannabis use. The goal is to see if having…
Early phase 1 • Sponsor: University of Illinois at Chicago • Aim: Symptom relief
Last updated Sep 03, 2026 00:00 UTC
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New study tests which laser technique clears kidney stones faster
Symptom relief Not yet recruitingThis study compares two ways to break up kidney stones using a laser and a suction device. One method turns stones into dust, the other into small fragments. The goal is to see which leaves fewer stone pieces behind after one month. About 86 adults with small kidney stones will t…
Sponsor: Bir Hospital • Aim: Symptom relief
Last updated Jul 02, 2026 00:00 UTC
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Could you help scientists unlock genetic cancer secrets?
Knowledge-focused Not yet recruitingThis study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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New hope for rare blood disorder: study reviews real-world use of enzyme therapy
Knowledge-focused Not yet recruitingThis study looks back at medical records of people with congenital thrombotic thrombocytopenic purpura (cTTP), a rare inherited blood disorder that causes dangerous blood clots. Participants received a manufactured version of the missing ADAMTS13 enzyme through an early access pr…
Sponsor: Takeda • Aim: Knowledge-focused
Last updated Aug 30, 2026 00:00 UTC
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New registry aims to unlock secrets of rare blood cancers
Knowledge-focused Not yet recruitingThis study is a registry that will collect medical information and blood samples from 500 adults with myelodysplastic syndromes (MDS) and related conditions. The goal is to learn more about how these diseases develop and progress over time. Participants will not receive any exper…
Sponsor: Technische Universität Dresden • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC