Autosomal anomaly
MONDO:0020049Chromosomal disorder in which the chromosomal anomaly involves an autosome.
Also known as: autosome chromosomal anomaly, chromosomal anomaly of autosome
195 clinical trials for this condition and its sub-types, 0 tagged with Autosomal anomaly itself.
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Sub-types of Autosomal anomaly
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Chromosome 21 disorder 0 trials · 138 incl. sub-types
6 sub-types
- Down syndrome 136 trials · 138 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 21 0 trials
- Monosomy 21 0 trials
- Paternal uniparental disomy of chromosome 21 0 trials
- Ring chromosome 21 0 trials
- Tetrasomy 21 0 trials
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Chromosome 17 disorder 0 trials · 29 incl. sub-types
4 sub-types
- Partial duplication of chromosome 17 0 trials · 19 incl. sub-types Sub-types →
- Partial deletion of chromosome 17 0 trials · 12 incl. sub-types Sub-types →
- Mosaic trisomy 17 0 trials
- Ring chromosome 17 0 trials
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Chromosome 7 disorder 0 trials · 19 incl. sub-types
6 sub-types
- Partial deletion of chromosome 7 0 trials · 18 incl. sub-types Sub-types →
- Partial duplication of chromosome 7 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 7 0 trials
- Paternal uniparental disomy of chromosome 7 0 trials
- Ring chromosome 7 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
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Chromosome 5 disorder 0 trials · 8 incl. sub-types
5 sub-types
- Partial deletion of chromosome 5 0 trials · 5 incl. sub-types Sub-types →
- Partial trisomy/tetrasomy of chromosome 5 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 5 0 trials
- Paternal uniparental disomy of chromosome 5 0 trials
- Ring chromosome 5 0 trials
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Chromosome 18 disorder 1 trial · 4 incl. sub-types
6 sub-types
- Trisomy 18 3 trials Sub-types →
- Chromosome 18 mosaic monosomy 0 trials
- Chromosome 18 pericentric inversion 0 trials
- Partial deletion of chromosome 18 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 18 0 trials Sub-types →
- Ring chromosome 18 0 trials
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Chromosome 13 disorder 0 trials · 4 incl. sub-types
6 sub-types
- Trisomy 13 4 trials Sub-types →
- Chromosome 13q-mosaicism 0 trials
- Maternal uniparental disomy of chromosome 13 0 trials
- Partial duplication of chromosome 13 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 13 0 trials
- Ring chromosome 13 0 trials
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Chromosome 10 disorder 0 trials · 2 incl. sub-types
4 sub-types
- Partial deletion of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Mosaic trisomy 10 0 trials
- Ring chromosome 10 0 trials
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Chromosome 2 disorder 0 trials · 2 incl. sub-types
5 sub-types
- Partial deletion of chromosome 2 0 trials · 2 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 2 0 trials
- Mosaic trisomy 2 0 trials
- Partial duplication of chromosome 2 0 trials Sub-types →
- Ring chromosome 2 0 trials
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Chromosome 8 disorder 0 trials · 2 incl. sub-types
6 sub-types
- Chromosome 8, trisomy 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 8 0 trials · 1 incl. sub-types Sub-types →
- 8p inverted duplication/deletion syndrome 0 trials
- Chromosome 8-derived supernumerary ring/marker 0 trials
- Monosomy chromosome 8 0 trials
- Partial duplication of chromosome 8 0 trials Sub-types →
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Chromosome 1 disorder 0 trials · 1 incl. sub-types
7 sub-types
- Partial deletion of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 1, uniparental disomy 1q12 q21 0 trials
- Maternal uniparental disomy of chromosome 1 0 trials
- Mosaic trisomy 1 0 trials
- Paternal uniparental disomy of chromosome 1 0 trials
- Ring chromosome 1 0 trials
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Chromosome 11 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 11 0 trials · 1 incl. sub-types Sub-types →
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 0 trials
- Partial duplication of chromosome 11 0 trials Sub-types →
- Ring chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
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Chromosome 14 disorder 0 trials · 1 incl. sub-types
4 sub-types
- Paternal uniparental disomy of chromosome 14 1 trial
- Maternal uniparental disomy of chromosome 14 0 trials
- Mosaic trisomy 14 0 trials
- Ring chromosome 14 0 trials
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Chromosome 16 disorder 0 trials · 1 incl. sub-types
6 sub-types
- Partial deletion of chromosome 16 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 16 inversion, 0.45-Mb 0 trials
- Chromosome 16 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 16 0 trials
- Partial duplication of chromosome 16 0 trials Sub-types →
- Ring chromosome 16 0 trials
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Chromosome 3 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 3 duplication syndrome 0 trials
- Mosaic trisomy 3 0 trials
- Ring chromosome 3 0 trials
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Chromosome 12 disorder 0 trials
4 sub-types
- Mosaic trisomy 12 0 trials
- Partial deletion of chromosome 12 0 trials Sub-types →
- Partial duplication of chromosome 12 0 trials Sub-types →
- Ring chromosome 12 0 trials
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Chromosome 15 disorder 0 trials
4 sub-types
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Chromosome 19 disorder 0 trials
3 sub-types
- Partial deletion of chromosome 19 0 trials Sub-types →
- Partial duplication of chromosome 19 0 trials Sub-types →
- Ring chromosome 19 0 trials
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Chromosome 20 disorder 0 trials
6 sub-types
- Chromosome 20 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 20 0 trials
- Partial deletion of chromosome 20 0 trials Sub-types →
- Partial trisomy of chromosome 20 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 20 0 trials
- Ring chromosome 20 0 trials
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Chromosome 22 disorder 0 trials
4 sub-types
- Maternal uniparental disomy of chromosome 22 0 trials
- Monosomy 22 0 trials Sub-types →
- Ring chromosome 22 0 trials
- Trisomy 22 0 trials Sub-types →
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Chromosome 4 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 4 0 trials
- Mosaic trisomy 4 0 trials
- Partial deletion of chromosome 4 0 trials Sub-types →
- Partial duplication of chromosome 4 0 trials Sub-types →
- Ring chromosome 4 0 trials
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Chromosome 6 disorder 0 trials
6 sub-types
- Maternal uniparental disomy of chromosome 6 0 trials
- Mosaic trisomy 6 0 trials
- Partial deletion of chromosome 6 0 trials Sub-types →
- Partial duplication of chromosome 6 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 6 0 trials
- Ring chromosome 6 0 trials
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Chromosome 9 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 9 0 trials
- Mosaic trisomy 9 0 trials
- Partial deletion of chromosome 9 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 9 0 trials Sub-types →
- Ring chromosome 9 0 trials
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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New Four-Drug cocktail aims to wipe out Hard-to-Treat myeloma
Disease control Not yet recruitingThis study tests a combination of four drugs—sotoclax, carfilzomib, lenalidomide, and dexamethasone (called SonKRd)—in people newly diagnosed with multiple myeloma that has a specific genetic change called t(11;14). Participants must be healthy enough for a stem cell transplant. …
Phase 4 • Sponsor: The First Affiliated Hospital of Soochow University • Aim: Disease control
Last updated Jul 19, 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 22, 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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Could a common nerve drug replace carpal tunnel surgery?
Symptom relief Not yet recruitingThis study tests whether 4-aminopyridine, a drug already approved for other nerve conditions, can improve symptoms of carpal tunnel syndrome or delay the need for surgery. Researchers will give 160 adults either the drug or a placebo for 6 weeks and track symptom changes using ha…
Phase 2 • Sponsor: John Elfar • Aim: Symptom relief
Last updated Jun 27, 2026 08:14 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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Wearable sensors could transform CMT1A monitoring
Knowledge-focused Not yet recruitingThis study will use wearable activity trackers to measure how much people with Charcot-Marie-Tooth disease type 1A (CMT1A) move at home. Researchers want to see if sensor data matches standard clinical tests. The goal is to improve patient follow-up and support future trials of n…
Sponsor: University Hospital, Limoges • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Tiny blood sample, big clues: stem cell study aims to unlock williams syndrome brain mystery
Knowledge-focused Not yet recruitingThis study will collect blood from 3 children with Williams syndrome and 3 healthy children. Scientists will turn blood cells into stem cells and then into brain cells to study how the brain develops differently in Williams syndrome. The goal is to understand the disease better, …
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Brain study aims to crack social skill mysteries in rare disorders
Knowledge-focused Not yet recruitingThis study looks at how the brains of children with Williams syndrome and autism differ, focusing on social and thinking skills. Researchers will compare 75 children aged 3-12 from three groups: those with Williams syndrome, those with autism, and typically developing kids. No tr…
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC
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New study aims to unravel fatigue in common nerve disease
Knowledge-focused Not yet recruitingThis pilot study looks at fatigue in people with Charcot-Marie-Tooth type 1A (CMT1A), a nerve disorder affecting arms and legs. Researchers will compare 22 patients with 22 healthy volunteers to measure how fatigue affects walking and balance. They use tests like muscle strength …
Sponsor: University Hospital, Strasbourg, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 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