A Fund Raising I am Participating in to Speed up a Cure for HIBM

Please click on the link below to donate to this cause.
http://www.crowdrise.com/runforhibm2013

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BENEFITING: ADVANCEMENT OF RESEARCH FOR MYOPATHIES

EVENT DATE: MAR 17, 2013 Los Angeles Marathon

My name is Tara and  I have been suffering from a disease known as Hereditary Inclusion Body Myopathy or HIBM. Over the past 10 plus years, I have  gone from being a very active productive person to now, having to wear leg braces to walk, wheel chair, and other assitive devices to be able to go out of my home.  I also depend on others for assistance.

  It is a very humbling experience to see my physical abilities deteriorate.  HIBM is  a progressively weakening muscle disease and eventually renders those afflicted with it totally unable to physically take care of themselves. HIBM has affected me in my most  productive years and continues.

Two young men representing me have volunteered to run in the LA marathon to bring increased awareness, and to help raise funds for ARM (Advancement for Research Myopathies) organisation.  In 10 years they have done an amazing job in finding treatments for this disease, and now they have moved research forward to clinical trials with two possible treatments. Patients are testing treatments for this disease! The next step will be gene therapy, and eventually stem cell therapy to bring back lost muscle.... 

 I kindly ask for your support and donations so we can get to human gene therapy trials for HIBM.  One of my hopes is that someday I will be able to walk and even run on my sandy local beach, so I could feel what it's like to walk barefoot on sand again.

Note: Donations are tax deductible.

Ultragenyx Will be Recruiting Patients With HIBM for a Natural History Study

Ultragenyx, the company that is doing the trial with Sialic Acid (SA-ER) will soon be recruiting HIBM patients for their registry.  I have posted the text and link here.  I will post again once they start recruiting.  

A service of the U.S. National Institutes of Health

Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease

This study is not yet open for participant recruitment.

Verified February 2013 by Ultragenyx Pharmaceutical Inc

Sponsor:

Ultragenyx Pharmaceutical Inc

Collaborator:

Newcastle University

Information provided by (Responsible Party):

Ultragenyx Pharmaceutical Inc

ClinicalTrials.gov Identifier:

NCT01784679

First received: February 4, 2013

Last updated: February 5, 2013

Last verified: February 2013

History of Change

Purpose

HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.

Condition
Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy (QSM) Distal Myopathy With Rimmed Vacuoles (DMRV)

Study Type:	Observational [Patient Registry]
Study Design:	Time Perspective: Prospective
Target Follow-Up Duration:	15 Years
Official Title:	Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease

Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:

• Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

• Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes. [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Estimated Enrollment:	200
Study Start Date:	March 2013
Estimated Study Completion Date:	February 2028
Estimated Primary Completion Date:	February 2016 (Final data collection date for primary outcome measure)

Groups/Cohorts
Natural History Prospective Observational Group
Online Registry Patient Reported Group

Detailed Description:

The main objective of this program is to better understand HIBM.

The specific HIBM Disease Registry's objectives are to:

• Identify HIBM patients worldwide.
• Promote awareness and facilitate diagnosis of HIBM disease in the neuromuscular field.
• Obtain an assessment of the medical history, clinical presentation and progression of disease in HIBM patients and provide a connection for subjects to the broader HIBM community and associated programs.
• Provide customized information to subjects and their physicians that desire information on their disease status and progression.

The specific HIBM Natural History Study's objectives are to:

• Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
• Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
• Identify biomarkers and efficacy measures for use as endpoints in future clinical studies.

Eligibility

Ages Eligible for Study:	18 Years to 65 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.

Criteria

Inclusion Criteria:

• • Must be at least 18 years of age.
  • Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents.
  • Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
  • Must be willing and able to comply with all study requirements.

Exclusion Criteria:

• For Natural History Component, Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
• For Online Registry Component, there are no exclusion criteria

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01784679

Contacts

Contact: John Ditton

jditton@ultragenyx.com

Sponsors and Collaborators

Ultragenyx Pharmaceutical Inc

Newcastle University

More Information

No publications provided

Responsible Party:	Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:	NCT01784679 History of Changes
Other Study ID Numbers:	UX001-CL401
Study First Received:	February 4, 2013
Last Updated:	February 5, 2013
Health Authority:	United States: Food and Drug Administration

Keywords provided by Ultragenyx Pharmaceutical Inc:

Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy

distal myopathy with rimmed vacuoles ultragenyx rare disease

Additional relevant MeSH terms:

Muscular Diseases Distal Myopathies Musculoskeletal Diseases Neuromuscular Diseases

Nervous System Diseases Muscular Dystrophies Muscular Disorders, Atrophic Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on February 14, 2013

http://www.clinicaltrials.gov/ct2/show/NCT01784679?term=hibm&rank=2