Motor Neuron DiseasesNCT00362362
Collection of Blood Samples for DNA in Motor Neuron Disease
An observational study of Motor Neuron Diseases, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
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. Patients 18 years of age and older with PLS or ALS may be eligible for this study. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Motor Neuron Diseases
- How many people
- 23 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Aug 2006to 9 Sep 2013
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
None listed.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Collection of Blood Samples for DNA Analysis in Motor Neuron Diseases
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.
Patients 18 years of age and older with PLS or ALS may be eligible for this study. Candidates are screened with a medical history, physical examination and diagnostic tests.
Participants provide a blood sample. The sample, along with masked (anonymous) medical and family history information are sent to the NINDS Respository at the Coriell Cell Repositories in Camden, NJ. This facility collects, stores and distributes medical research information and cell cultures and DNA samples to researchers at hospitals, universities and commercial organizations. The blood sample has an identification number that is unrelated to any identifying information for the patient and cannot be tracked back to the patient.
Read the detailed description
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.
- Conditions
- Motor Neuron Diseases
- Keywords
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Genetics, Blood Sample, PLS, ALS
- Medical subject headings
- Motor Neuron Disease, Amyotrophic Lateral Sclerosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Aug 2006 (estimated)
- Study start7 Aug 2006
- Study completion9 Sep 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Motor Neuron DiseasesStudies 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
- Enrolment
- 23 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Investigators
- Mary Kay Floeter, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00362362
- Sponsor's protocol ID
- 060224
- Other IDs
- 06-N-0224
- Status last verified
- 9 Sep 2013
- First submitted
- 9 Aug 2006
- Last updated
- 6 Oct 2017
- Results posted
- No
Publications
Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992 Apr;115 ( Pt 2):495-520. doi: 10.1093/brain/115.2.495.
PubMed 1606479Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. doi: 10.1080/146608200300079536. No abstract available.
PubMed 11464847Younger DS, Chou S, Hays AP, Lange DJ, Emerson R, Brin M, Thompson H Jr, Rowland LP. Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol. 1988 Dec;45(12):1304-7. doi: 10.1001/archneur.1988.00520360022005.
PubMed 3196189
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Collection of Blood Samples for DNA Analysis in Motor Neuron Diseases
- ClinicalTrials.gov ID
- NCT00362362
- Acronym / sponsor ID
- 060224
- Conditions
- Motor Neuron Diseases
- Keywords
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Genetics, Blood Sample, PLS, ALS
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 23 participants (actual)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 7 Aug 2006
- Study completion
- 9 Sep 2013
- First posted
- 10 Aug 2006 (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.
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.
Patients 18 years of age and older with PLS or ALS may be eligible for this study. Candidates are screened with a medical history, physical examination and diagnostic tests.
Participants provide a blood sample. The sample, along with masked (anonymous) medical and family history information are sent to the NINDS Respository at the Coriell Cell Repositories in Camden, NJ. This facility collects, stores and distributes medical research information and cell cultures and DNA samples to researchers at hospitals, universities and commercial organizations. The blood sample has an identification number that is unrelated to any identifying information for the patient and cannot be tracked back to the patient.
Detailed description
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.
Study design
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (0 listed)
Key exclusion criteria (1 listed)
- None
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
Not reported in the source record.
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 6 Oct 2017.
- Background: PubMed 1606479Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992 Apr;115 ( Pt 2):495-520. doi: 10.1093/brain/115.2.495.
- Background: PubMed 11464847Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. doi: 10.1080/146608200300079536. No abstract available.
- Background: PubMed 3196189Younger DS, Chou S, Hays AP, Lange DJ, Emerson R, Brin M, Thompson H Jr, Rowland LP. Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol. 1988 Dec;45(12):1304-7. doi: 10.1001/archneur.1988.00520360022005.
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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.
Mary Kay Floeter, 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 Motor Neuron Diseases, 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 0 inclusion and 1 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 6 Oct 2017. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00362362, which also lists 3 linked publications.
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 6 Oct 2017.