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Disease

Down Syndrome

Late-stage therapeutic developmentEmerging researchSteady momentum
MeSHDown Syndrome
4
Publications
19
Clinical trials
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 4 clinical trials expected to report results, the earliest in Q3 2027.
  • 1 industry development reported.
Upcoming Milestones
Clinical Milestones8View
Results posted 1
Results expected 4
Recently completed 1
Other updates 2
Industry & Market1View
Activity timeline9

Clinical trials

14 sponsors · 2 new · 1 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
19
All trials
6
Active
11
Late-stage
6
Completed
Late-stage studies

Prospective Non-randomized Multicenter Trial: the Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in Russia

Phase 3 · Recruiting · Federal Research Institute of Pediatric Hematology, Oncology and Immunology

Endotype DIrected Treatment for OSA in Down Syndrome

Phase 4 · Recruiting · University of Arizona

Effect of Pulsatile GnRH Therapy on Cognition in Down Syndrome: Randomized Placebo Control Study

Phase 2/3 · Recruiting · Nelly Pitteloud

A 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)

Phase 3 · Active, not recruiting · National Cancer Institute (NCI)

Risk-Stratified Therapy for Acute Myeloid Leukemia in Down Syndrome

Phase 3 · Active, not recruiting · Children's Oncology Group

A Phase III, Randomized, Double-blinded Study of the Efficacy and Safety of LEvetiracetam to Prevent Seizures in Symptomatic Alzheimer's Disease in Adults With Down Syndrome (the LESS-AD Trial).

Phase 3 · Recruiting · Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Recently completed

Randomized, 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 Disease

Phase 1 · Completed · Perha Pharmaceuticals

Fluoxetine Treatment of Depression in Adults With Down Syndrome

Phase 4 · Completed · Massachusetts General Hospital

Evaluation of Atomoxetine and Oxybutynin for Obstructive Sleep Apnea in Children With Down Syndrome

Phase 2 · Completed · University of Arizona

Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children

Phase 3 · Completed · Institut Jerome Lejeune

A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome

Phase 4 · Completed · University of Colorado, Denver

One-year Double-blind Placebo-controlled Phase 2-3 Study to Evaluate the Effect of Oral Folinic Acid Treatment (1mg/kg/d) on the Psychomotor Development of Young Down Syndrome Patients

Phase 2/3 · Completed · Institut Jerome Lejeune

Research activity

4 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20162024
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

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

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)

Identifiers
MeSHDown Syndrome
References & data sources
  • 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.