Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Launched by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) · Mar 30, 2012

Keywords

ClinConnect Summary

This clinical trial is focused on understanding nerve and muscle disorders that begin in childhood, such as muscular dystrophies and hereditary neuropathies. Researchers want to learn more about the genetic causes of these conditions and how symptoms may change over time. They are looking for individuals aged 4 weeks and older who either have these disorders, are family members of affected individuals, or are healthy volunteers without any neurological conditions.

Participants can expect to undergo various tests and evaluations, including physical exams, imaging studies of muscles and bones, heart and lung function tests, and more. Those with nerve and muscle disorders will return for follow-up visits each year to repeat some of these tests. This study aims to gather valuable information that can help improve understanding and treatment of these childhood-onset disorders. If you or someone you know may qualify, it could be a meaningful opportunity to contribute to important research.

Gender

ALL

Eligibility criteria

• * INCLUSION AND EXCLUSION CRITERIA:
• Probands inclusion criteria Phase 1:
• • 1. Aged 4 weeks and older
• • 2. 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.
• • 1. Medical history, including family history information
• • 2. Physical examination
• • 3. Muscle, nerve, or skin biopsy
• • 4. Magnetic resonance imaging (MRI)
• • 5. Electromyography (EMG)
• • 6. Nerve conduction study (NCS)
• • 7. Electroencephalogram (EEG)
• • 8. Muscle ultrasound
• • 9. Genetic, metabolic, or other laboratory testing such as increased serum Creatine Kinase (CK) and abnormal serum lactate/pyruvate ratio.
• Exclusion criteria for probands Phase 1:
• • 1. Individuals who are unable or unwilling to be examined
• • 2. Minors who do not hve a parent or guardian able to provide informed consent
• • 3. Adults seen offsite who are unable to provide their own consent
• Probands inclusion criteria Phase 2:
• • 1. Aged 4 weeks and older
• • 2. Documentation of a defined childhood onset neuromuscular and neurogenetic disorders through phase 1 testing.
• Exclusion criteria for probands Phase 2:
• • 1. Individuals who are unable or unwilling to be examined.
• • 2. 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.
• • 3. Minors who do not have a parent or guardian able to provide informed consent.
• • 4. Adults seen offsite who are unable to provide their own consent.
• Unaffected Family members - Inclusion Criteria:
• • 1. 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).
• • 2. Age 4 weeks and older.
• Unaffected Family members - Exclusion Criteria:
• • 1. Individuals whom are unable or unwilling to be examined.
• • 2. Family members who are showing symptoms of the familial neurogenetic or neuromuscular condition (these may be enrolled as probands).
• • 3. Neonates.
• • 4. Adults who are unable to provide their own consent.
• Healthy Volunteers - Inclusion Criteria:
• • 1. Must be unaffected by a neurological condition.
• • 2. Willing and able to comply with all protocol requirements and procedures, including MRI without sedation and without contrast.
• • 3. Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian.
• Healthy Volunteers - Exclusion Criteria:
• • 1. 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.
• • 2. Healthy volunteers who have a fear of closed spaces.
• • 3. Neonates.
• • 4. Pregnant