Acroosteolysis dominant type
MONDO:0007057A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.
Also known as: Arthrodentoosteodysplasia, Cheney syndrome, Hajdu Cheney Syndrome, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome-NOTCH2, acrodentoosteodysplasia, acroosteolysis with osteoporosis and changes in skull and mandible, serpentine fibula polycystic kidney syndrome
67 clinical trials for this condition and its sub-types.
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Pausing arthritis drug may boost pneumonia Shot's power
Disease control Not yet recruitingThis study tests whether temporarily stopping methotrexate for 2 weeks after receiving a pneumonia vaccine (PCV20) helps the vaccine work better in adults with autoimmune rheumatic diseases like rheumatoid arthritis or lupus. About 192 participants with stable, low disease activi…
Phase: PHASE4 • Sponsor: University of Sao Paulo General Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New pill aims to shield stomachs from common painkiller damage
Prevention Not yet recruitingThis study tests whether a new medicine called Fexuprazan (Fexuclue) can prevent stomach ulcers caused by NSAID painkillers like ibuprofen. About 360 adults with joint or muscle pain who need daily NSAIDs will take either Fexuprazan or an older drug (Lansoprazole) for 24 weeks. T…
Phase: PHASE4 • Sponsor: Daewoong Pharmaceutical Co. LTD. • Aim: Prevention
Last updated Jun 27, 2026 12:07 UTC
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Can your own blood and fat heal aching joints? new trial aims to find out
Symptom relief Not yet recruitingThis early-phase trial will test four orthobiologic treatments—PRP, bone marrow concentrate, hyaluronic acid, and nanofat—in 300 adults with various muscle, joint, tendon, or bone conditions. The goal is to see if these natural substances can reduce pain and improve joint functio…
Phase: EARLY_PHASE1 • Sponsor: PROREGEN • Aim: Symptom relief
Last updated Jun 27, 2026 09:08 UTC
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Phone app may boost exercise for aching joints
Symptom relief Not yet recruitingThis study looks at whether a mobile app can help people with common pains (neck, shoulder, back, or knee) do their prescribed home exercises more regularly. About 30 adults will be split into two groups: one using the app and one doing traditional exercises. The goal is to see i…
Phase: NA • Sponsor: National Yang Ming Chiao Tung University • Aim: Symptom relief
Last updated Jun 27, 2026 08:12 UTC
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New urdu tool could help millions with muscle and joint pain
Knowledge-focused Not yet recruitingThis study aims to translate and adapt a widely used questionnaire for musculoskeletal problems into Urdu. Researchers will enroll 110 Urdu-speaking adults, including patients with muscle or joint issues and healthy volunteers. The goal is to create a validated tool to measure sy…
Sponsor: Riphah International University • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
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AI vs. doctor: which note do patients trust more?
Knowledge-focused Not yet recruitingThis study looks at how patients feel when reading their own medical notes. Some will read the original doctor's note, others will read a simpler version written by artificial intelligence. Researchers want to see if the AI summary changes how much patients trust their doctor or …
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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New digital tool aims to speed up return to work for those with muscle pain
Knowledge-focused Not yet recruitingThis study tests a decision support system called SmaRTWork to help people on sick leave due to muscle or back pain return to work. About 298 adults in Norway will either use the system or receive usual care. The main goal is to see if the tool helps them return to work sustainab…
Phase: NA • Sponsor: Norwegian University of Science and Technology • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Can a quick skin scan reveal hidden inflammation in arthritis?
Knowledge-focused Not yet recruitingThis study will measure harmful molecules called AGEs in 300 people with various rheumatic diseases (like rheumatoid arthritis and ankylosing spondylitis) and compare them to healthy volunteers. AGEs build up over time and can cause inflammation. Researchers will use a non-invasi…
Sponsor: Bursa City Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC