Pseudoaminopterin syndrome
MONDO:0010865Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Also known as: ASSA, aminopterin syndrome-like sine aminopterin, pseudoaminopterin syndrome, aminopterin syndrome sine aminopterin
41 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders
Disease control Not yet recruitingThis early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Disease control
Last updated Jun 27, 2026 12:09 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