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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Community leaders step up to boost COVID shots in black rheumatic patients
⭐️ VACCINE ⭐️ OngoingThis study tests whether training popular community leaders to share vaccine information can increase COVID-19 booster shots among Black individuals with rheumatic conditions like lupus. About 60 people will take part, including leaders and their social network members. The goal …
Phase: NA • Sponsor: Northwestern University • Aim: ⭐️ VACCINE ⭐️
Last updated Jun 27, 2026 13:00 UTC
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Can an online course keep arthritis patients working?
Symptom relief OngoingThis study tests an online program designed to help people with inflammatory arthritis remain employed. The program includes eLearning modules, group video sessions, and consultations with an occupational therapist and vocational counselor. About 528 participants from three Canad…
Phase: NA • Sponsor: University of British Columbia • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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New tool could predict who will suffer from steroid side effects
Knowledge-focused OngoingThis study aims to create a tool that predicts which patients with inflammatory rheumatic diseases (like rheumatoid arthritis, vasculitis, or polymyalgia rheumatica) will develop serious side effects from long-term steroid use. Researchers will collect routine medical data—such a…
Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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Weekly Check-Ins could boost patient satisfaction for chronic pain
Knowledge-focused TerminatedThis study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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Can a special clinic get workers back on the job faster? norway launches massive study.
Knowledge-focused OngoingThis study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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New registry aims to unlock safer pregnancies for women with autoimmune conditions
Knowledge-focused ENROLLING_BY_INVITATIONThis registry enrolls up to 1,000 women aged 12–55 with rheumatic or autoimmune diseases who are pregnant or planning pregnancy. Researchers will collect data from medical records and patient surveys to study pregnancy outcomes, disease activity, and medication use. No experiment…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Hidden swallowing risks found in rheumatic disease patients?
Knowledge-focused OngoingThis study checks how common swallowing difficulties (dysphagia) are in people with inflammatory rheumatic diseases like rheumatoid arthritis. Researchers used questionnaires to measure swallowing function, gut symptoms, and diet quality in 191 participants. The goal is to unders…
Sponsor: Pamukkale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Massive PT study mines 4 million records to find what works best
Knowledge-focused OngoingThis study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …
Sponsor: ATI Holdings, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Phone app vs. doctor: can a mobile tool catch infections after surgery?
Knowledge-focused TerminatedThis study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Trauma tied to fibromyalgia? new study investigates
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at whether stressful or traumatic life events increase the chance of developing fibromyalgia. Researchers will follow 534 adults—some with rheumatic diseases and some healthy—for one year, checking for new fibromyalgia cases. The goal is to better understand how …
Sponsor: National Institute of Medical Sciences and Nutrition, Salvador Zubiran • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC