GNE MyopathyNCT01417533
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
An observational study of GNE Myopathy and GNE Related Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 4 to 80 years
- Conditions the study is for
- GNE Myopathy, GNE Related Diseases
- How many people
- 78 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Sep 2011to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Age 4-80 years, either gender, inclusive.
- 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.
- Subjects that are a carrier family member of a patient on the study are eligible to participate.
- Must be able to provide informed consent.
Who cannot join
- Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
- 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.
- Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
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/
Read the 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.
- Conditions
- GNE Myopathy, GNE Related Diseases
- Keywords
- Hereditary Inclusion Body Myopathy, Natural History
- Medical subject headings
- Distal myopathy, Nonaka type
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| GNE | Patients with a diagnosis of GNE myopathy | |
| GNE-Related Diseases | Patient with a GNE related disease | |
| non-GNE | Subjects that are a carrier family member or a caregiver of a patient on the study are eligibleto participate. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural History
To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.
Measured: Ongiong
Secondary outcomes (1)
Endpoints
To identify endpoints and biomarkers of the disease. To study factors that contribute to disease heterogeneity.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Aug 2011 (estimated)
- Study start14 Sep 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for GNE MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 78 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Therapeutics for Rare and Neglected Diseases (TRND)
- Responsible party
- Sponsor
- Investigators
- William A Gahl, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01417533
- Sponsor's protocol ID
- 110218
- Other IDs
- 11-HG-0218
- Status last verified
- 7 Jul 2026
- First submitted
- 13 Aug 2011
- Last updated
- 28 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. Neurology. 2021 Feb 2;96(5):e798-e808. doi: 10.1212/WNL.0000000000011231. Epub 2020 Nov 20.
PubMed 33219145
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
- ClinicalTrials.gov ID
- NCT01417533
- Acronym / sponsor ID
- 110218
- Conditions
- GNE Myopathy, GNE Related Diseases
- Keywords
- Hereditary Inclusion Body Myopathy, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 78 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Collaborators
- Therapeutics for Rare and Neglected Diseases (TRND)
- Study start
- 14 Sep 2011 (actual)
- First posted
- 16 Aug 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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/
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| GNE | – | –Patients with a diagnosis of GNE myopathy |
| GNE-Related Diseases | – | –Patient with a GNE related disease |
| non-GNE | – | –Subjects that are a carrier family member or a caregiver of a patient on the study are eligibleto participate. |
Who may qualify
- Ages
- 4 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
Key exclusion criteria (3 listed)
- Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
- 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.
- Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Natural History
Time frame: Ongiong
To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.
1 secondary outcome
Endpoints
Time frame: Ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2026.
- Derived from this study: PubMed 33219145Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. Neurology. 2021 Feb 2;96(5):e798-e808. doi: 10.1212/WNL.0000000000011231. Epub 2020 Nov 20.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for GNE Myopathy
RecruitingPhase 1/2
First-in-human Study of UX016 in GNEM
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Active, not recruitingPhase 2
Multi-Center Study of ManNAc for GNE Myopathy
GNE Myopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
William A Gahl, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GNE Myopathy and GNE Related Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural History (time frame: Ongiong). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01417533, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Sep 2026.