RecruitingNot applicableNCT04869683
Blood
Myelodysplastic Syndrome with del(5q)
Also known as MDS del5q, 5q minus syndrome, low-risk MDS
Myelodysplastic syndrome with isolated del(5q) is a distinct WHO-classified MDS subtype defined by macrocytic anemia with preserved or elevated platelet counts, hypolobulated megakaryocytes on bone marrow biopsy, and isolated deletion of ch
ORPHA:86841 ↗Gene RPS14 (haploinsufficiency)Prevalence Estimated 1-2 per 100,000; accounts for approximately 10-15% of all MDS casesOnset Middle-aged to older adults; median age at diagnosis approximately 65-67 yearsAcquired somatic chromosomal deletion
2
studies recruiting now
as of 7 Sept 2026
85
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
29 Jun 2023
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2NCT05924100
Efficacy and Safety of Luspatercept for the Treatment of Anemia Due to MDS With del5q, Refractory/Resistant/Intolerant to Prior Treatments, RBC-TD
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Myelodysplastic Syndrome with del(5q)
Myelodysplastic syndrome with isolated del(5q) is a distinct WHO-classified MDS subtype defined by macrocytic anemia with preserved or elevated platelet counts, hypolobulated megakaryocytes on bone marrow biopsy, and isolated deletion of chromosome 5q including the RPS14 gene locus, which causes ribosomal stress and impaired erythropoiesis. It predominantly affects older women and carries a relatively favorable prognosis among MDS subtypes, with lenalidomide (Revlimid) achieving cytogenetic remission in the majority of transfusion-dependent patients. Risk of transformation to acute myeloid leukemia, particularly with concurrent TP53 mutations, requires ongoing surveillance.
Common clinical features
Macrocytic anemia causing fatigue, pallor, and dyspneaTransfusion dependence in moderate to severe casesThrombocytosis or normal platelet count (distinguishing from other MDS subtypes)Hypolobulated micromegakaryocytes on bone marrow examinationLow or absent blasts on peripheral blood smearSplenomegaly in some patientsNormal or near-normal white blood cell countElevated mean corpuscular volume (MCV) with low reticulocyte count
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Myelodysplastic Syndrome with del(5q). Not eligibility rules; those are set by each study.
- Cytogenetic confirmation of isolated del(5q) by conventional karyotyping or FISH is required for enrollment; additional cytogenetic abnormalities (with exception of del(20q) and -Y) may affect eligibility.
- TP53 mutation status by NGS panel is increasingly required at trial screening, as concurrent TP53 mutations confer higher AML transformation risk and may affect trial arms or stratification.
- Transfusion dependence (defined as 2 or more RBC units in 8 weeks over 16 weeks prior to enrollment), lenalidomide exposure and response history, and IPSS-R risk score are key eligibility variables.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).