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Recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

ClinicalTrials.gov ID: NCT01353430

Public ClinicalTrials.gov record NCT01353430. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 6, 2026, 7:44 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

Characterization of Familial Myopathy and Paget Disease of Bone

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID
NCT01353430
Recruitment status
Recruiting
Study type
Observational
Phase
Not listed
Enrollment
50 participants

Conditions and interventions

Eligibility (public fields only)

Age range
18 Years and older
Sex
All
Healthy volunteers
Accepts healthy volunteers

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Nov 14, 2007
Primary completion
Nov 30, 2030
Completion
Nov 30, 2030
Last update posted
Jun 17, 2025

2007 – 2030

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
University of California, Irvine Irvine California 92697-1385 Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT01353430, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Jun 17, 2025 · Synced Sep 6, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT01353430 live on ClinicalTrials.gov.

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