GNE Myopathy Clinical Trial in Bethesda MD
NCT01417533
| Observational
This study is looking to recruit 125 Participants
Background:
- GNE Myopathy 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 GNE Myopathy .
Eligibility:
- Individuals between 18 and 80 years of age who have GNE 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/...
Details for the study
Population
Patients with a diagnosis of GNE myopathy or GNE-related disease. Subjects that are a
carrier family member or a caregiver of a patient on the study are eligible to participate.
Brief Title
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Official Title
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Brief Summary
Background:
<br />
<br /> - GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness.
<br /> It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg
<br /> muscles. HIBM is caused by mutations in a gene that may affect how the muscles function.
<br /> Researchers want to learn more about the causes, symptoms, and effects of HIBM.
<br />
<br /> Objectives:
<br />
<br /> - To collect genetic and medical information from people with GNE Myopathy .
<br />
<br /> Eligibility:
<br />
<br /> - Individuals between 18 and 80 years of age who have GNE Myopathy and do not use a
<br /> wheelchair. - Participants must be willing to stop any current treatment of HIBM while
<br /> enrolled in the study.
<br />
<br /> Design:
<br />
<br /> - Participants will be screened with a medical history, physical exam, and neurological
<br /> exam.
<br />
<br /> - At the first visit, participants will have the following tests:
<br />
<br /> - Questionnaires about the impact of HIBM on daily activities, mood, and quality of life
<br />
<br /> - 24-hour urine collection
<br />
<br /> - Blood samples
<br />
<br /> - Heart function tests
<br />
<br /> - Muscle strength and endurance tests, including walking
<br />
<br /> - Imaging study of the muscles
<br />
<br /> - Participants will return for followup visits at 6, 12, and 18 months. They may be asked
<br /> to return for a final visit at 24 months. Not all tests will be performed at each visit.
<br />
<br /> - Treatment will not be provided as part of this protocol.
<br />
<br /> For more information, visit our website: http://hibmstudy.nhgri.nih.gov/...
Detailed Description
This is a prospective observational study to evaluate patients with GNE myopathy and other
GNE-related diseases. The GNE gene encodes for UDP-GlcNAc 2-epimerase/ManNAc kinase, the
bifunctional enzyme that initiates and regulates intracellular sialic acid (Neu5Ac)
biosynthesis and glycan sialylation. GNE myopathy is a rare, autosomal recessive myopathy
with onset in early adulthood characterized by progressive skeletal muscle atrophy and
weakness. The impairment of Neu5Ac production is presumed to cause decreased sialylation of
muscle glycoproteins, resulting in muscle deterioration. Other GNE-related diseases such as
congenital thrombocytopenia have been recently identified, but the pathophysiology is not
well understood. In this protocol, we plan to evaluate patients with GNE myopathy and other
GNE-related diseases clinically, biochemically, and molecularly to characterize the
mechanisms of disease, to delineate the natural history, phenotypes, progression and
complications of GNE-related diseases, and to identify endpoints and biomarkers to support
clinical trials testing potential therapies.
Outcome Measures
Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.
Primary
Natural History
To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.
Secondary
Endpoints
To identify endpoints and biomarkers of the disease. To study factors that contribute to disease heterogeneity.
Study Criteria
INCLUSION CRITERIA:
1. Age 4-80 years, either gender, inclusive.
2. Diagnosis of GNE myopathy or GNE-related diseases based upon the identification
of GNE gene mutations. Molecular confirmation of the diagnosis will be obtained
for all subjects in the study.
3. Subjects that are a carrier family member of a patient on the study are eligible
to participate.
4. Must be able to provide informed consent.
EXCLUSION CRITERIA:
1. Psychiatric illness or other diseases that would interfere with the subject s ability
to comply with the requirements of this protocol.
2. Hepatic laboratory parameters (aspartate aminotransferase [AST], alanine
aminotransferase [ALT]) or renal laboratory parameters (creatinine, blood urea
nitrogen [BUN]) greater than 3 times the upper limit of normal.
3. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal,
hematological, metabolic, or gastrointestinal disease not related to the primary
disease process.
