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Collection of Blood Samples for DNA Analysis in Motor Neuron Diseases |
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Study Focus:
This study will collect blood samples from patients with primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) to be used for research on genetic causes of motor neuron diseases and other neurological disorders. |
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Disease:
Amyotrophic Lateral Sclerosis (ALS), Primary Lateral Sclerosis (PLS) |
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Study Category:
Biomarkers/imaging |
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Study Status:
Active, currently recruiting |
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Phase:
Not Applicable |
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Type:
Observational Study |
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Funding Source:
National Institute of Neurological Disorders and Stroke |
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Study Chair(s)/Principal Investigator(s):
Mary Kay Floeter, M.D. (National Institute of Neurological Disorders and Stroke) |
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Clinicaltrials.gov ID:
NCT00362362 |
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NEALS Affiliated?
No |
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Study Summary:
OBJECTIVE:
The causes of sporadic motor neuron diseases, primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) are unknown. Genes have been identified for some forms of familial motor neuron diseases. We don't know whether genes also play a role in sporadic motor neuron disease, for example through risk-factor genes or by the interaction of multiple genes as a complex genetic disorder. Identification of genetic contributions to sporadic motor neuron diseases requires analysis of DNA from patients.
The goal of this protocol is to collect blood samples from patients with motor neuron disease for creation of cell lines to bank in a repository created through an NINDS initiative. The cell lines will be used for DNA extraction. The repository provides anonymized samples of patient DNA or cell lines to investigators who are seeking to define genetic causes, contributions, and susceptibilities to neurological disorders. DNA and cell lines created from the blood sample are stripped of patient identifiers and stored indefinitely. A limited amount of clinical data, termed the clinical data elements, will be available for each coded sample. The samples will only be available for research. The results of testing will not be communicated to the patient.
STUDY POPULATION:
All patients will be enrolled in a primary protocol for the study of motor neuron diseases at NIH. This protocol will serve as a secondary protocol for sample collection and reporting of clinical data elements. Patients with Primary lateral sclerosis must meet the diagnostic criteria for PLS proposed by Pringle and patients with ALS must fulfill the revised El Escorial criteria for probable or definite ALS.
DESIGN:
Determination of diagnosis and eligibility will be carried out as part of the primary protocol. Patients will be informed of the DNA sample repository and its purpose. After informed consent is obtained, 2 tubes of blood will be drawn and assigned a unique identifier code. The coded samples, and a clinical data element form will then be sent to the repository, which will extract DNA and prepare cell lines. The identities of the subjects will not be stored. An aliquot of the sample will be forwarded to the associate investigator to look for disease associations with genetic markers.
OUTCOME MEASURES:
There is no specific outcome measure for this protocol. The samples will be made accessible to a wide variety of researchers seeking to determine the causes of motor neuron diseases and other neurological disorders through the repository's contract with NINDS. |
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# of Subjects:
60 |
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Enrollment Start Date:
08/01/2006 |
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Enrollment End Date:
12/01/-0001 |
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Posting Last Modified Date:
11/01/2011 |
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Date Study Added to alscortium.org:
11/16/2011 |
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| Eligibility Criteria |
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Gender:
Male & Female |
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Minimum Age:
18 |
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Time since Diagnosis:
More than 36 months |
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Coordinating Center
Contact Information |
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| Carol H Hoffman |
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| carol.hoffman@nih.gov |
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| (301) 496-7428 |
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| National Institutes of Health Clinical Center |
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9000 Rockville Pike
Bethesda, Maryland 20892
UNITED STATES |
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Other Eligibility Criteria:
PRIMARY LATERAL SCLEROSIS INCLUSION CRITERIA:
Patients with PLS, aged 18 and older, must meet the diagnostic criteria proposed by Pringle (1992), incorporating Santa Clara (2004) consensus for pure PLS.
Clinical:
Insidious onset in adulthood, progressive course
No family history
Disease duration greater than 3 years without lower motor neuron clinical signs
Clinical signs restricted to corticospinal/corticobulbar tract dysfunction
Imaging:
Brain MRI normal (except cortical atrophy)
Normal cervical spine
Negative chest X-ray, negative mammograms in women
EMG after 3 years, but within last 3 years, showing no active denervation.
Normal serological studies for serum chemistry, Vitamin B12, Vitamin E levels, very long-chain fatty acids.
Negative serology for syphilis, Lyme disease, HTLV 1 and 2.
AMYOTROPHIC LATERAL SCLEROSIS INCLUSION CRITERIA:
Patients with ALS, aged 18 and older, must fulfill the revised El Escorial criteria for probable or definite ALS.
Probable ALS: Upper and Lower motor neuron signs are present in more than two regions, but some UMN signs must be rostral to LMN signs.
Definite ALS: Upper and Lower motor neuron signs are present in more than three regions.
EXCLUSION CRITERIA:
None |
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Site Contact Information (Please click to show/hide) |
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| Maryland |
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National Institutes of Health Clinical Center
Carol Hoffman
carol.hoffman@nih.gov
(301) 496-7428
9000 Rockville Pike
Bethesda, Maryland 20892
UNITED STATES |
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Familial ALS- ALS cases are inherited from 2 or more family members, affects 5-10% of ALS cases. Sporadic ALS- disease occurs at random with no clearly associated risk factors; most common form of ALS, affects approximately 90-95% ALS cases. Interventional trial- study where exposure, for example a drug, is assigned; used to determine the effectiveness of a treatment or intervention. With drugs and a placebo- One group gets the active treatment, the other gets the placebo. Everything else is held the same between the two groups, so that any difference in their outcome can be attributed to the active treatment. Observational study- study in which patients are observed and where no treatment is given; researcher has no control over the experiment because they are done in a more natural setting than an interventional trial. Trial Phase- objectives are different for each phase of a trial. - Phase I, drug is given to a small number of people to see if it is safe.
- Phase II begins to look at effectiveness of the drug.
- Phase III is considered the definitive test of whether a drug is effective, held at multiple research sites and much larger than the previous phases.
Vital Capacity- the maximum amount of air that can be expelled from the lungs after a maximum drawing of air into the lungs, measured by a spirometer and then scored as a percentage. |
