Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MONDO:0008178A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
Also known as: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1, inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1, IBMPFD1, inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1, lower motor neuron degeneration with Paget-like bone disease, multisystem proteinopathy 1, muscular dystrophy, limb-girdle, with Paget disease of bone, pagetoid amyotrophic lateral sclerosis
13 clinical trials for this condition and its sub-types.
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New handheld scanner could replace MRI for muscle disease monitoring
Diagnosis Recruiting nowThis study is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…
Sponsor: Beth Israel Deaconess Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:03 UTC
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Can magnetic pulses ease frontotemporal dementia?
Symptom relief Recruiting nowThis study is testing whether a safe, non-invasive brain stimulation technique called rTMS can help people with frontotemporal dementia (FTLD) or those at risk. 120 participants will receive either real or placebo stimulation for 2 weeks, then all will get real stimulation. Resea…
Phase: NA • Sponsor: Università degli Studi di Brescia • Aim: Symptom relief
Last updated Jun 27, 2026 08:08 UTC
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New video program aims to ease the burden on FTD family caregivers
Symptom relief Recruiting nowThis study tests a video-based program called STELLA-FTD that helps family members caring for a loved one with frontotemporal dementia (FTD). The program teaches caregivers how to manage difficult behaviors and connect with community resources. Researchers will enroll 640 caregiv…
Phase: NA • Sponsor: Oregon Health and Science University • Aim: Symptom relief
Last updated Jun 27, 2026 07:56 UTC
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Can tracking brain changes over time unlock the secrets of frontotemporal dementia?
Knowledge-focused Recruiting nowThis long-term study follows people with or at genetic risk for frontotemporal lobar degeneration (FTLD), a group of brain disorders that cause changes in behavior, language, and movement. Researchers will use brain scans, memory tests, and blood samples to measure how the diseas…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Aug 01, 2026 00:00 UTC
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Wearable tech tracks fatigue in muscle disease patients
Knowledge-focused Recruiting nowThis study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…
Sponsor: IRCCS Eugenio Medea • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC