Down syndrome
MONDO:0008608Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Also known as: Down syndrome, Down syndrome, Isolated cases, Down's syndrome, leukemia, megakaryoblastic, with or without Down syndrome, somatic, trisomy 21 (Down syndrome), complete trisomy 21 syndrome, trisomy 21, trisomy 21 syndrome
137 clinical trials for this condition and its sub-types, 135 tagged with Down syndrome itself.
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Sub-types of Down syndrome
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Trisomy 21 9 trials · 10 incl. sub-types
2 sub-types
- Mosaic trisomy 21 1 trial
- Complete trisomy 21 0 trials
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Translocation Down syndrome 2 trials
3 sub-types
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Partial segmental duplication 1 trial
Most studied deeper sub-types
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Can an immune-targeting antibody reverse sudden losses in down syndrome?
Disease control Not yet recruitingDown syndrome regression disorder (DSRD) causes a sudden loss of thinking, language, or daily skills in some people with Down syndrome. Researchers are testing ublituximab, an antibody that targets immune cells, in 20 adults aged 18 to 40 who have DSRD and did not respond well en…
Phase 2 • Sponsor: Jonathan Santoro • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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Playtime as brain training: a new approach targets thinking skills in down syndrome
Disease control Not yet recruitingThis trial tests a play-based program called EXPO, where caregivers guide children with Down syndrome through fun activities designed to strengthen executive function, the mental skills behind planning, focus, and self-control. Researchers will compare children who receive EXPO r…
Sponsor: Colorado State University • Aim: Disease control
Last updated Aug 30, 2026 00:00 UTC
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Can targeted exercises boost balance in children with down syndrome?
Disease control Not yet recruitingThis trial compares two exercise programs—vestibular stimulation and foot intrinsic muscle exercises—to see which better improves balance and functional mobility in children with Down syndrome aged 4 to 15. Children with Down syndrome often have balance and mobility challenges du…
Sponsor: Shalamar Institute of Health Sciences • Aim: Disease control
Last updated Aug 23, 2026 00:00 UTC
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Could a Vitamin-Like pill protect the brains of people with down syndrome?
Disease control Not yet recruitingThis early-stage trial tests a supplement called MIB-626 (a form of NMN) in 24 adults with Down syndrome. The goal is to see if it is safe and can raise NAD+ levels, which may help protect against Alzheimer's disease. Participants take the pill or a placebo for 28 days and are mo…
Phase 1 • Sponsor: Brigham and Women's Hospital • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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Could a drug clear Alzheimer's plaques in people with down syndrome?
Disease control Not yet recruitingThis study tests whether donanemab, given as an IV infusion every 4 weeks, can safely lower amyloid plaques in the brains of 60 adults aged 35–50 with Down syndrome. Participants receive either donanemab or a placebo for 12 months, followed by a 12-month extension where everyone …
Phase 4 • Sponsor: Michael Rafii, MD, PhD • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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Could a pacifier help babies with down syndrome breathe better at night?
Prevention Not yet recruitingThis study tests whether a special pacifier, called CURAPROX, can reduce the severity of obstructive sleep apnea (OSA) in infants with Down syndrome. Fifty infants will be enrolled at one month old, with half using the pacifier and half not. At six months, sleep tests will measur…
Sponsor: Hospices Civils de Lyon • Aim: Prevention
Last updated Jun 27, 2026 14:00 UTC
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Could a higher dose of an Alzheimer's drug boost thinking skills in down syndrome?
Symptom relief Not yet recruitingThis early-stage trial will test whether higher-than-standard doses of memantine, a drug already approved for Alzheimer's, are safe and tolerable in 25 adolescents and young adults with Down syndrome. The study also looks for early signs that the drug might improve memory and thi…
Phase 1 • Sponsor: University Hospitals Cleveland Medical Center • Aim: Symptom relief
Last updated Sep 16, 2026 00:00 UTC
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Can visual cues unlock sentence building in children with language delays?
Symptom relief Not yet recruitingThis pilot study tests a new therapy called Syntactic-Semantic Visual Configuration Intervention (SSVCI) for Urdu-speaking children aged 6 to 12 who struggle to form phrases and sentences. The therapy uses visual cues and structured activities to help children understand and prod…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Aug 28, 2026 00:00 UTC
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Bouncing to better breathing: trampoline therapy tested for down syndrome kids
Symptom relief Not yet recruitingThis study tests whether adding mini-trampoline exercises (rebound therapy) to standard chest physical therapy can improve lung function in children with Down syndrome. Forty children aged 9 to 13 will be randomly assigned to either chest therapy alone or chest therapy plus rebou…
Sponsor: Beni-Suef University • Aim: Symptom relief
Last updated Jun 27, 2026 09:07 UTC
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Parenting a child with down syndrome? new study tests resilience training to ease burden
Symptom relief Not yet recruitingThis study tests whether a resilience training program can help parents of young children with Down syndrome feel more accepting and less burdened. About 50 parents will be randomly assigned to either the training or usual care. Researchers will measure changes in acceptance, rej…
Sponsor: Ain Shams University • Aim: Symptom relief
Last updated Jun 27, 2026 08:07 UTC
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Could a natural compound sharpen minds of kids with down syndrome?
Symptom relief Not yet recruitingThis study tests whether a natural compound called phenolic complex k110-42 can improve attention and thinking in children with Down syndrome. About 108 children aged 4 to 8 will take the compound and have their cognitive skills measured with standard tests. The goal is to ease s…
Phase 3 • Sponsor: Mansoura University • Aim: Symptom relief
Last updated Jun 27, 2026 08:03 UTC
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New program aims to prevent depression in parents of down syndrome babies
Knowledge-focused Not yet recruitingThis study is testing a program called Mothers and Babies for Down Syndrome (MBDS) to help prevent depression in new and expectant parents of infants with Down syndrome. About 72 parents will take part in a small pilot study to see if the program helps with feelings of grief and …
Sponsor: Northwestern University • Aim: Knowledge-focused
Last updated Sep 17, 2026 00:00 UTC
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Could hidden blood problems be common in children with certain genetic syndromes?
Knowledge-focused Not yet recruitingThis study looks at blood health in children with numerical chromosomal disorders, such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome. Researchers will measure blood counts and check for issues like anemia, low platelets, or abnorma…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Can a special walker help babies with down syndrome take their first steps?
Knowledge-focused Not yet recruitingThis study looks at whether a suspension walker is a practical tool for pre-walking infants with Down syndrome to use at home. Twelve infants aged 10-13 months will try using the walker for 20 minutes a day, 5 days a week over three months. Researchers want to see if families can…
Sponsor: University of Southern California • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
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New study to uncover hidden genetic carriers of down syndrome in families
Knowledge-focused Not yet recruitingThis study will look at 230 children with Down syndrome and their parents to find out how many have a rare form called translocation Down syndrome. Researchers will use blood tests to check if parents carry a balanced translocation that can be passed down. The goal is to better u…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:22 UTC