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
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 InformationNo 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
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