Down Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
Evaluating Assessment and Medication Treatment of ADHD in Children With Down Syndrome
Mechanistic Investigation of Therapies for Down Syndrome Regression Disorder
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 3 clinical trials expected to report results, the earliest in Q3 2027.
- 2 industry developments reported.
- Q3 2027A Phase 3 Trial Investigating Blinatumomab (NSC# 765986) in Combination With Chemotherapy in Patients With Newly Diagnosed Standard Risk or Down Syndrome B-Lymphoblastic Leukemia (B-ALL) and the Treatment of Patients With Localized B-Lymphoblastic Lymphoma (B-LLy)
- Q1 2030Endotype DIrected Treatment for OSA in Down Syndrome
- Q3 2030Prospective Non-randomized Multicenter Trial: the Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in Russia
Clinical MilestonesViewHide
- 2026-07-30A Phase 3 Trial Investigating Blinatumomab (NSC# 765986) in Combination With Chemotherapy in Patients With Newly Diagnosed Standard Risk or Down Syndrome B-Lymphoblastic Leukemia (B-ALL) and the Treatment of Patients With Localized B-Lymphoblastic Lymphoma (B-LLy)Results expected Q3 2027
- 2026-04-07Endotype DIrected Treatment for OSA in Down SyndromeResults expected Q1 2030
- 2025-11-20Prospective Non-randomized Multicenter Trial: the Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in RussiaResults expected Q3 2030
- 2026-08-31Evaluating Assessment and Medication Treatment of ADHD in Children With Down SyndromePrimary completion
- 2026-06-25Randomized, Double-Blind, Placebo-Controlled Phase 1 Study to Evaluate Safety, Tolerability, PK/PD of SAD, MAD and Food Effect of Leucettinib-21 in Healthy Male Subjects, and Single Dose in Subjects With Down Syndrome or Alzheimer's DiseaseCompleted
Industry & MarketViewHide
- 2026-08-24Excellent 10-Year Implant Survivorship Following Primary Total Hip Arthroplasty in Patients Who Have Down Syndrome: A Retrospective Cohort StudyResearch news · The Journal of Arthroplasty
- 2026-06-25Opinion: My adult daughter has Down syndrome. Her life is entirely different from what experts expectedIndustry · STAT News
- 2026-09-01ClinicalPhase II Trial to Evaluate Safety and Efficacy of GM-CSF /Sargramostim in Down SyndromeWithdrawn
- 2026-08-31ClinicalEvaluating Assessment and Medication Treatment of ADHD in Children With Down SyndromePrimary completion
- 2026-08-24IndustryExcellent 10-Year Implant Survivorship Following Primary Total Hip Arthroplasty in Patients Who Have Down Syndrome: A Retrospective Cohort StudyResearch news · The Journal of Arthroplasty
- 2026-07-30ClinicalA Phase 3 Trial Investigating Blinatumomab (NSC# 765986) in Combination With Chemotherapy in Patients With Newly Diagnosed Standard Risk or Down Syndrome B-Lymphoblastic Leukemia (B-ALL) and the Treatment of Patients With Localized B-Lymphoblastic Lymphoma (B-LLy)Results expected Q3 2027
- 2026-06-25IndustryOpinion: My adult daughter has Down syndrome. Her life is entirely different from what experts expectedIndustry · STAT News
- 2026-06-25ClinicalRandomized, Double-Blind, Placebo-Controlled Phase 1 Study to Evaluate Safety, Tolerability, PK/PD of SAD, MAD and Food Effect of Leucettinib-21 in Healthy Male Subjects, and Single Dose in Subjects With Down Syndrome or Alzheimer's DiseaseCompleted
- 2026-04-07ClinicalEndotype DIrected Treatment for OSA in Down SyndromeResults expected Q1 2030
- 2025-11-20ClinicalProspective Non-randomized Multicenter Trial: the Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in RussiaResults expected Q3 2030
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes7
- Down Syndrome2
- Autophagy1
- Cystathionine beta-Synthase1
- Endoplasmic Reticulum Stress1
- Heart1
- Hydrogen Sulfide1
- Up-Regulation1
Leading journals4
- Blood1
- GeroScience1
- Nature communications1
- Pediatrics1
Leading researchers8
- Aarsland D1
- Al Khleifat A1
- Al-Chalabi A1
- Alexander N1
- Allen K1
- Anton C1
- Arber DA1
- Ascenção K1
Affiliations (unnormalised)6
- Ann and Robert H. Lurie Children's Hospital of Chicago1
- Arkansas Children's Heart Institute1
- Basque Country University1
- Baylor School of Medicine1
- Biodonostia Health Research Institute1
- Boston Children's Hospital1
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Reference
Authoritative identity, definition & identifiers.
A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.