Genetic and Physical Study of Childhood Nerve and Muscle Disorders
-
- STATUS
- Recruiting
-
- participants needed
- 5650
-
- sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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. 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.
- 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.
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.
Details
| Condition | Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions |
|---|---|
| Clinical Study Identifier | NCT01568658 |
| Sponsor | National Institute of Neurological Disorders and Stroke (NINDS) |
| Last Modified on | 19 June 2022 |
How to participate?
,
You have contacted , on
Your message has been sent to the study team at ,
What happens next?
- You can expect the study team to contact you via email or phone in the next few days.
- Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.
You are contacting
Primary Contact
Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.
Learn moreIf you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.
Learn moreComplete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.
Learn moreSimilar trials to consider
Browse trials for
Not finding what you're looking for?
Sign up as a volunteer to stay informed
Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.
Sign up as volunteer