Muscular DystrophiesNCT01568658
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
An observational study of Muscular Dystrophies and Muscle Myopathies, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
Background: Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Read more about this study
- Who is it for?
- Ages 1 day to 100 years
- Conditions the study is for
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias
- How many people
- 2,586 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Mar 2012to 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 1 day to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Affected probands with the following categories of childhood onset inherited neurological disorders will be enrolled:-peripheral neuropathies; -muscular dystrophies and myopathies; -congenital muscular dystrophies and congenital myopathies; -disorders of the neuromuscular junction; -motor neuron disorders; -neuromotor or movement disorders; -disorders of brain development; -neurometabolic disorders; -disorders that have a phenotype suggestive of neurogenetic or neuromuscular disease but which have not yet been genetically confirmed. Families of affected probands, with known or suspected inherited neurological disorders of childhood onset will be enrolled. Healthy volunteers will enrolled for one-time imaging procedures. A single patient with compound heterozygous FDX2 mutations will be enrolled under an emergency IND for use of Idebenone for slowing progression of subacute blindness.
Who may be able to join
- Probands inclusion criteria Phase 1:
- Aged 4 weeks and older
- Documentation of a personal history of a childhood-onset, hereditary/familial, neurological disorder or later onset of a disease that more commonly has childhood onset. Acceptable documentation includes evaluation through any or all of the following evaluations done prior to enrollment.
- Medical history, including family history information
- Physical examination
- Muscle, nerve, or skin biopsy
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- Magnetic resonance imaging (MRI)
- Electromyography (EMG)
- Nerve conduction study (NCS)
- Electroencephalogram (EEG)
- Muscle ultrasound
- Genetic, metabolic, or other laboratory testing such as increased serum Creatine Kinase (CK) and abnormal serum lactate/pyruvate ratio.
- Unaffected family members must be related by blood to a proband enrolled in the study. Biological relations may include first (parent or sibling), second (grandparents, aunts, uncles, half siblings) and third degree relatives (cousins).
- Age 4 weeks and older.
- Must be unaffected by a neurological condition.
- Willing and able to comply with all protocol requirements and procedures, including MRI without sedation and without contrast.
- Minors: able to give informed assent (when applicable) and have parent(s)/legal guardian provide signed informed consent. Adults: able to provide signed informed consent.
Who cannot join
- Individuals who are unable or unwilling to be examined.
- Minors who do not have a parent or guardian able to provide informed consent.
- Adults seen offsite who are unable to provide their own consent.
- Probands inclusion criteria Phase 2:
- Aged 4 weeks and older
- Documentation of a defined childhood onset neuromuscular and neurogenetic disorders through phase 1 testing.
Show all 20Show fewer
- Individuals who are unable or unwilling to be examined.
- Adults who are unable to provide their own consent and who have not previously appointed an individual with Durable Power of Attorney (DPA) or who are unable to appoint a DPA or guardian.
- Minors who do not have a parent or guardian able to provide informed consent.
- Adults seen offsite who are unable to provide their own consent.
- Unaffected Family members
- Individuals whom are unable or unwilling to be examined.
- Family members who are showing symptoms of the familial neurogenetic or neuromuscular condition (these may be enrolled as probands).
- Neonates.
- Adults who are unable to provide their own consent.
- Healthy volunteers
- Healthy volunteers who have metal objects in their body that are not MRI-safe. These include the following objects: 1) pacemakers or other implanted electrical devices; 2) brain stimulators; 3) some types of dental implants; 4) aneurysm clips (metal clips on the wall of a large artery); 5) metallic prostheses (including metal pins and rods, heart valves, and cochlear implants; 6) implanted delivery pump; 7) permanent eye liner; or 8) shrapnel fragments.
- Healthy volunteers who have a fear of closed spaces.
- Neonates.
- Pregnant
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood
Background:
- Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers.
Read more
Objectives:
- To better understand nerve and muscle disorders that start early in life and run in families.
Eligibility:
- Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset.
- Affected and unaffected family members of the individuals with muscular and nerve disorders.
- Healthy volunteers at least 4 weeks old with no nerve or muscle disorders.
Design:
- Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected.
- Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants.
- All participants with nerve and muscle disorders will have multiple tests, including the following:
- Imaging studies of the muscles, including ultrasound and MRI scans.
- Imaging studies of the bones, such as x-rays and DEXA scans.
- Heart and lung function tests.
- Eye exams.
- Nerve and muscle electrical activity tests and biopsies.
- Video and photo image collection of affected muscles.
- Speech, language, and swallowing evaluation.
- Lumbar puncture to collect spinal fluid for study.
- Tests of movement, attention, thinking, and coordination.
- Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.
Read the detailed description
Objective:
To diagnose and elucidate the underlying disease mechanism in patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset (phase 1 of the protocol) and to study the natural history and mechanism of disease in neuromuscular and neurogenetic disorders of childhood (phase 2 of the protocol).
Study population:
Patients with childhood onset neuromuscular and neurogenetic disorders, their affected and unaffected family members, and healthy volunteers. Patients with later onset of a disorder that is known to typically have childhood onset will be included as well.
Design:
Diagnostic and prospective longitudinal natural history study.
Outcome Measures:
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism. In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary function tests.
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
- Keywords
- Hereditary Myopathies, Neuropathology, Muscular Dystrophy, Natural History
- Medical subject headings
- Muscular Dystrophies, Spastic Paraplegia, Hereditary
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 |
|---|---|---|
| Affected probands | Affected probands over age 4 weeks and onwards with known or suspected inherited neurological disorders of childhood onset | |
| Healthy volunteers | Healthy volunteers will be recruited for the imaging procedures in order to establish baseline and age-range matched data on the healthy, maturing muscle, spinal cord volume and dynamic breathing | |
| Single patient on Idebenone | Single patient on IND expanded access of Idebenone | |
| Unaffected family members | Families of affected probands with known or suspected inherited neurological disorders of childhood onset |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism.
Measured: Ongoing
In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary...
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2012 (estimated)
- Study start20 Mar 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular DystrophiesStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 2,586 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- A. Reghan Foley, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01568658
- Sponsor's protocol ID
- 120095
- Other IDs
- 12-N-0095
- Status last verified
- 28 Oct 2026
- First submitted
- 30 Mar 2012
- Last updated
- 30 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood
- ClinicalTrials.gov ID
- NCT01568658
- Acronym / sponsor ID
- 120095
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
- Keywords
- Hereditary Myopathies, Neuropathology, Muscular Dystrophy, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 2,586 participants (actual)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 20 Mar 2012 (actual)
- First posted
- 2 Apr 2012 (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:
- Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers.
Objectives:
- To better understand nerve and muscle disorders that start early in life and run in families.
Eligibility:
- Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset.
- Affected and unaffected family members of the individuals with muscular and nerve disorders.
- Healthy volunteers at least 4 weeks old with no nerve or muscle disorders.
Design:
- Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected.
- Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants.
- All participants with nerve and muscle disorders will have multiple tests, including the following:
- Imaging studies of the muscles, including ultrasound and MRI scans.
- Imaging studies of the bones, such as x-rays and DEXA scans.
- Heart and lung function tests.
- Eye exams.
- Nerve and muscle electrical activity tests and biopsies.
- Video and photo image collection of affected muscles.
- Speech, language, and swallowing evaluation.
- Lumbar puncture to collect spinal fluid for study.
- Tests of movement, attention, thinking, and coordination.
- Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.
Detailed description
Objective:
To diagnose and elucidate the underlying disease mechanism in patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset (phase 1 of the protocol) and to study the natural history and mechanism of disease in neuromuscular and neurogenetic disorders of childhood (phase 2 of the protocol).
Study population:
Patients with childhood onset neuromuscular and neurogenetic disorders, their affected and unaffected family members, and healthy volunteers. Patients with later onset of a disorder that is known to typically have childhood onset will be included as well.
Design:
Diagnostic and prospective longitudinal natural history study.
Outcome Measures:
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism. In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary function tests.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Affected probands | – | –Affected probands over age 4 weeks and onwards with known or suspected inherited neurological disorders of childhood onset |
| Healthy volunteers | – | –Healthy volunteers will be recruited for the imaging procedures in order to establish baseline and age-range matched data on the healthy, maturing muscle, spinal cord volume and dynamic breathing |
| Single patient on Idebenone | – | –Single patient on IND expanded access of Idebenone |
| Unaffected family members | – | –Families of affected probands with known or suspected inherited neurological disorders of childhood onset |
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Affected probands with the following categories of childhood onset inherited neurological disorders will be enrolled:-peripheral neuropathies; -muscular dystrophies and myopathies; -congenital muscular dystrophies and congenital myopathies; -disorders of the neuromuscular junction; -motor neuron disorders; -neuromotor or movement disorders; -disorders of brain development; -neurometabolic disorders; -disorders that have a phenotype suggestive of neurogenetic or neuromuscular disease but which have not yet been genetically confirmed. Families of affected probands, with known or suspected inherited neurological disorders of childhood onset will be enrolled. Healthy volunteers will enrolled for one-time imaging procedures. A single patient with compound heterozygous FDX2 mutations will be enrolled under an emergency IND for use of Idebenone for slowing progression of subacute blindness.
Key inclusion criteria (17 listed)
- Aged 4 weeks and older
- Documentation of a personal history of a childhood-onset, hereditary/familial, neurological disorder or later onset of a disease that more commonly has childhood onset. Acceptable documentation includes evaluation through any or all of the following evaluations done prior to enrollment.
- Unaffected family members must be related by blood to a proband enrolled in the study. Biological relations may include first (parent or sibling), second (grandparents, aunts, uncles, half siblings) and third degree relatives (cousins).
- Age 4 weeks and older.
- Must be unaffected by a neurological condition.
Key exclusion criteria (20 listed)
- Individuals who are unable or unwilling to be examined.
- Minors who do not have a parent or guardian able to provide informed consent.
- Adults seen offsite who are unable to provide their own consent.
- Aged 4 weeks and older
- Documentation of a defined childhood onset neuromuscular and neurogenetic disorders through phase 1 testing.
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
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism.
Time frame: Ongoing
In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary...
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 30 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
A. Reghan Foley, M.D. principal investigator
National Institute of Neurological Disorders and Stroke (NINDS)
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 Muscular Dystrophies and Muscle Myopathies, run by National Institute of Neurological Disorders and Stroke (NINDS) 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 17 inclusion and 20 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 30 Oct 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?
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism. (time frame: Ongoing). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 30 Oct 2026.