2 studies
2 sponsors
1 condition

Sponsor Condition of Interest
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal...
University of California, Irvine Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Paget Disease of Bone Frontotemporal Dementia Myopathy
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... expand

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.

Type: Observational

Start Date: Jan 2000

open study

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Sanford Health Rare Disorders Undiagnosed Disorders Disorders of Unknown Prevalence Cornelia De Lange Syndrome Prenatal Benign Hypophosphatasia
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily... expand

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Type: Observational [Patient Registry]

Start Date: Jul 2010

open study