A Natural History Study of Patients With GNE Myopathy
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - 80 |
| Updated: | 3/14/2019 |
| Start Date: | September 14, 2011 |
| Contact: | Kennan S Bradley |
| Email: | kennan.bradley@nih.gov |
| Phone: | (301) 827-7746 |
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/
- 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, previously known as Hereditary Inclusion Body Myopathy (HIBM), or Nonaka
Myopathy, is an autosomal recessive myopathy with onset in early adulthood characterized by
progressive muscle atrophy and weakness. The causative gene, GNE, encodes for the
bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) that
catalyzes the rate-limiting step in the biosynthesis of sialic acid (Neu5Ac). The subsequent
impairment of Neu5Ac production is presumed to cause decreased sialylation of GNE myopathy
muscle glycoproteins, resulting in muscle deterioration. In this protocol, we will clinically
evaluate patients with GNE myopathy. 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 phenotype,
progression and complications of the disease. Additionally, the study is designed to identify
endpoints and biomarkers for future therapeutic trials
Myopathy, is an autosomal recessive myopathy with onset in early adulthood characterized by
progressive muscle atrophy and weakness. The causative gene, GNE, encodes for the
bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) that
catalyzes the rate-limiting step in the biosynthesis of sialic acid (Neu5Ac). The subsequent
impairment of Neu5Ac production is presumed to cause decreased sialylation of GNE myopathy
muscle glycoproteins, resulting in muscle deterioration. In this protocol, we will clinically
evaluate patients with GNE myopathy. 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 phenotype,
progression and complications of the disease. Additionally, the study is designed to identify
endpoints and biomarkers for future therapeutic trials
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-441-1222
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