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A Natural History Study of Patients With GNE Myopathy

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborator:
Therapeutics for Rare and Neglected Diseases (TRND)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT01417533
First received: August 13, 2011
Last updated: September 27, 2016
Last verified: September 2016

August 13, 2011
September 27, 2016
July 2011
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The baseline rate of progression of complications and its correlation with age of onset of the disease. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
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Complete list of historical versions of study NCT01417533 on ClinicalTrials.gov Archive Site
  • The functional outcome measures (potential endpoints) to be used to test future therapeutic interventions. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
  • The identification of potential serum biomarkers (sialylated as disease markers and the correlation between muscle magnetic resonance imaging (MRI) findings with progression of the disease [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
  • The rates of progression for individual subjects. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
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A Natural History Study of Patients With GNE Myopathy
A Natural History Study of Patients With GNE Myopathy

Background:

- Hereditary inclusion body myopathy (HIBM) is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles. HIBM is caused by mutations in a gene that may affect how the muscles function. Researchers want to learn more about the causes, symptoms, and effects of HIBM.

Objectives:

- To collect genetic and medical information from people with hereditary inclusion body myopathy.

Eligibility:

- Individuals between 18 and 80 years of age who have hereditary inclusion body myopathy and do not use a wheelchair. - Participants must be willing to stop any current treatment of HIBM while enrolled in the study.

Design:

  • Participants will be screened with a medical history, physical exam, and neurological exam.
  • At the first visit, participants will have the following tests:
  • Questionnaires about the impact of HIBM on daily activities, mood, and quality of life
  • 24-hour urine collection
  • Blood samples
  • Heart function tests
  • Muscle strength and endurance tests, including walking
  • Imaging study of the muscles
  • Participants will return for followup visits at 6, 12, and 18 months. They may be asked to return for a final visit at 24 months. Not all tests will be performed at each visit.
  • Treatment will not be provided as part of this protocol.

For more information, visit our website: http://hibmstudy.nhgri.nih.gov/

GNE myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive myopathy with onset in early adulthood characterized by progressive muscle weakness. The causative gene, GNE, codes for the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) that catalyzes the first two steps in the biosynthesis of sialic acid (SA). The subsequent paucity of SA production is presumed to cause decreased sialylation of GNE myopathy muscle glycoproteins, resulting in muscle deterioration. To date, the amount of prospectively collected and published natural history data on GNE myopathy has been minimal due to the rare nature of this disease. This natural history study seeks to further characterize the rate of progression of the disease and how it relates to age of onset. Additionally, the study is designed to elucidate functional outcome measures (endpoints) for future therapeutic trials, and correlate serum biomarkers and muscle magnetic resonance imaging (MRI) findings to progression of the disease.
Observational
Time Perspective: Prospective
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Hereditary Inclusion Body Myopathy
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
100
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  • INCLUSION CRITERIA:

    1. Age 18-80 years, either gender, inclusive.
    2. Diagnosis of GNE myopathy based upon:

      1. Consistent clinical course, family history of GNE myopathy or characteristic findings on muscle biopsy, and
      2. Identification of two GNE gene mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study.
    3. Subjects may be taking ManNAc at the time of their enrollment, but must be willing to stop treatment with ManNAc, sialic acid (SA), intravenous immunoglobulin (IVIG), and/or other supplements containing SA (e.g., St John s wort, sialyllactose) after the screening assessment and must be willing to remain off treatment for the duration of the study.
    4. Ability to travel to the NIH Clinical Center repeatedly for admissions.
    5. Subjects that are a carrier family member or a caregiver of a patient on the study are eligible to participate.
    6. Must be able to provide informed consent.

EXCLUSION CRITERIA:

  1. Inability to travel to the NIH Clinical Center for repeated evaluations.
  2. Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
  3. Hepatic laboratory parameters (aspartate aminotransferase [AST], alanine aminotransferase [ALT], gamma-GTP) or renal laboratory parameters (creatinine, blood urea nitrogen [BUN]) greater than 3 times the upper limit of normal.
  4. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Both
18 Years to 80 Years   (Adult, Senior)
No
Contact: John R Perreault, C.R.N.P. (301) 827-9235 john.perreault@nih.gov
Contact: Nuria Carrillo-Carrasco, M.D. (301) 402-2324 carrilln@mail.nih.gov
United States
 
NCT01417533
110218, 11-HG-0218
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National Human Genome Research Institute (NHGRI)
National Human Genome Research Institute (NHGRI)
Therapeutics for Rare and Neglected Diseases (TRND)
Principal Investigator: Nuria Carrillo-Carrasco, M.D. National Human Genome Research Institute (NHGRI)
National Institutes of Health Clinical Center (CC)
September 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP