Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Recruiting
Observational Study
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal DementiaPaget Disease of BoneFrontotemporal DementiaMyopathy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
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Review the details below, then apply to join this clinical trial.
At a Glance
Age
18 and older
Sex
Any
Study type
Observational
Participants needed
50 (estimated)
Sponsor
University of California, Irvine · Other
Who this trial is looking for
This trial is looking for people with inherited muscle and bone diseases, as well as their family members. Participants will provide blood and urine samples and may travel for additional tests like MRIs.
Are You a Good Fit for This Trial?
You may be able to join if
I am 18 years or older
I have muscle disorders
I have bone disorders
I can give my consent
I am a family member of someone with these conditions
You may not be able to join if
I am under the age of 18
I have a different unrelated diagnosis
I am unable to provide consent for myself
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease.
The investigators are collecting biological …
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease.
The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan.
Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patient…
Inclusion Criteria:
* Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:
Muscle disorders considered include:
* Limb Girdle Muscular Dystrophy
* Myopathy
* Inclusion body myopathy
* FSH (Facioscapular muscular dystrophy) without the mutation
* Scapuloperoneal muscular dystrophy
* Amyotrophic Lateral Sclerosis
* Non specific muscular dystrophy
AND
* Bone disorders including:
* Paget disease of bone
* Fibrous dysplasia
* Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
* Non-specific bone disease
Eligible participants must also be:
* Subjects must to 18 years or older
* Subjects must to able to give consent
* Adult family members or spouses over the age of 18 of the affected individuals
Exclusion Criteria:
* Under the age of 18.
Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.
Those who are unable to provide consent for themselves will be excluded from participating in the study.
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