Molecular Analysis of Patients With Neuromuscular Disease
|First Received Date ICMJE||October 17, 2006|
|Last Updated Date||July 21, 2011|
|Start Date ICMJE||January 2002|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00390104 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Molecular Analysis of Patients With Neuromuscular Disease|
|Official Title ICMJE||Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members|
The purpose of this study is to identify genes and proteins responsible for specific muscle disorders by studying genetic material from individuals with neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne and Becker muscular dystrophy DMD/BMD, limb-girdle muscle dystrophy LGMD. There are still many patients diagnosed with muscular dystrophy but have no causative gene implicated in their disease. We feel that these patients may have new genetic changes in genes coding for important muscle proteins that we have yet to identify. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
Our research has many goals, one of which is to characterize the genetic changes responsible for the type of muscle disease found in our participants. In our past research, several new genes responsible for various forms of neuromuscular disease were identified and/or are being studied. These include dystrophin, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsies has led to new insights into disease pathophysiology which we hope will aid in finding treatments.
Our research also studies gene expression in muscle biopsy samples. This entails identifying the genes whose expression is increased or decreased in the muscles of individuals with different muscular dystrophy types. We believe these studies will identify genes and gene pathways which are common to the pathogenesis of muscular dystrophy or which are unique to a particular dystrophy. Our microarray research should lead to a better understanding of the disease process and possible ways to halt the process. The end point of these studies would be an accurate description of the disease pathogenesis.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Family-Based
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Biospecimen||Retention: Samples With DNA
DNA from blood or saliva and muscle samples from proband/ DNA from blood or saliva from family members
|Sampling Method||Non-Probability Sample|
Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||500|
|Estimated Completion Date||January 2015|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups.
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00390104|
|Other Study ID Numbers ICMJE||03-12-205, 1 P01 NS40828-01|
|Has Data Monitoring Committee||Yes|
|Responsible Party||Dr. Louis Kunkel, Children's Hospital, Boston|
|Study Sponsor ICMJE||Children's Hospital Boston|
|Collaborators ICMJE||National Institutes of Health (NIH)|
|Information Provided By||Children's Hospital Boston|
|Verification Date||July 2011|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP