ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu
ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu
ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu
ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu
ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu
ALS Research Collaboration
  • Home
  • Learn ⇓
    • ALS Glossary of Terms
    • Frequently Asked Questions
    • About Familial ALS
  • Research Studies
  • Get Involved ⇓
    • Join a Study
    • Contact Us
    • US Clinical Trial Map
    • Newsletter
    • Support Our Research
  • About Us ⇓
    • Our Journey
    • Core Members
  • Search
  • Menu

Motor Neuron Genotype-Phenotype Correlation (IBMPFD-ALS)

About the Study

Principal Investigator: Michael Benatar, MD, PhD

250px-Protein_VCP_PDB_1e32 copyIBMPFD is a rare disorder in which affected individuals may have muscle weakness, Paget’s disease of bone and/or dementia. Muscle weakness in this disorder has typically been attributed to a disease of muscle known as inclusion body myopathy (IBM). The only identified genetic cause of IBMPFD is mutation of the VCP (valosin-containing protein) gene, although mutations in other genes are believed to cause IBMPFD in families without VCP mutations. We have recently found that mutations in VCP may also cause familial ALS and that ALS sometimes occurs in families with IBMPFD. Based on these observations, the goal of this study is to further explore the extent to which muscle weakness in people with IBMPFD might be due to motor neuron degeneration.

Eligibility Criteria

Individual affected with muscle weakness, Paget’s disease or dementia in a family known to have IBMPFD, irrespective of whether family is known to harbor a mutation in the VCP gene.

Funding Agencies

als_assoc_logo
ALS Association

Collaborators
  • Bjorn Oskarsson, MD (University of California, Davis)
  • J. Paul Taylor, MD, PhD (St. Jude Children’s Research Hospital)
  • Bryan Traynor, MD (National Institutes of Health)
  • Conrad Chris Weihl, MD, PhD (Washington University, St. Louis)
Contact

Project Manager

  • Catalina Maria Fernandez, MD

Contact Information

  • Email: MFernandez4@med.miami.edu
  • Phone: (305) 243-8487
Links
  • ALS Association New Research Grants Announced: Motor Neuron Phenoytpe-Genotype Correlation Study in Patients with Mutant VCP
  • ALS Association: VCP Mutations as a Cause of Familial ALS
  • MDA ALS Newsmagazine: VCP Gene Implicated in Familial ALS, IBM
Publications
  • Benatar M, Wuu J, Fernandez C, Weihl CC, et al. Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology. 2013 May 14;80(20):1874-80. [ PubMed Link ]
  • Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28;495(7442):467-73. [ PubMed Link ]
  • Abramzon Y, Johnson JO, Scholz SW, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis, Neurobiology of Aging, Volume 33, Issue 9, September 2012, Pages 2231.e1-2231.e6. [ PubMed Link ]
  • Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. [ PubMed Link ]
Presentations and Lectures

Benatar M. Motor neuron involvement in multi-system proteinopathy: implications for ALS/MND. 23rd International Symposium on ALS/MND, Chicago, Dec 5-7, 2012

Back to Research Studies

Active Research Studies

  • Research Studies (All)
  • Pre-fALS
  • CReATe PGB
  • PRESS-ALS
  • CRiALS Biomarker
  • CRiALS Genetics
  • Neuraltus NP001

Contact Us

By phone:
For familial ALS and general inquiries:
1-888-413-9315
For the CReATe Consortium and related studies:
1-844-837-1031

By email:
fals@miami.edu (For familial ALS inquiries)
projectcreate@miami.edu (For CReATe inquiries)
alsresearch@miami.edu (General inquiries)

Support Our Research

Affiliates

  • CReATe Consortium
  • CReATe Connect
  • The Kessenich Family ALS Center at UM
  • ALS Recovery Fund
  • ALS Association
  • Muscular Dystrophy Association
  • CDC National ALS Registry
  • The Northeastern ALS Consortium
  • Myasthenia Gravis Research Group
Read Our Newsletter

News

  • Biomarker for ALS Disease Progression Identified by the Teams at University of Miami and Flinders University!03/07/2017 - 5:48 pm
  • Brain MedicineDr. Benatar presents promising phase II trial results of Arimoclomol in SOD1 ALS12/09/2016 - 5:02 pm
  • CReATe Consortium Virtual Journal Club12/08/2016 - 3:18 pm
More News
© Copyright - ALS Research Collaboration. Site by Academic Web Pages
Scroll to top
Translate »