We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04953494
Recruitment Status : Not yet recruiting
First Posted : July 8, 2021
Last Update Posted : July 8, 2021
Sponsor:
Information provided by (Responsible Party):
Peking University Third Hospital

Tracking Information
First Submitted Date June 27, 2021
First Posted Date July 8, 2021
Last Update Posted Date July 8, 2021
Estimated Study Start Date August 1, 2021
Estimated Primary Completion Date August 31, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 7, 2021)
  • death [ Time Frame: until the patient dies, usually 1-10 years after diagnosis. ]
    patients' death
  • invasive breathing [ Time Frame: until the patient has invasive breathing, usually 1-10 years after diagnosis. ]
    The patient uses a ventilator to maintain breathing
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis
Official Title Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis
Brief Summary This study will establish a comprehensive exon database of ALS patients, lay the foundation for screening the genes related to the occurrence and development of the disease, support the theory of ALS disease progression from peripheral to central, and reveal the correlation between the functional level of peripheral nerve and the prognosis of the disease at the gene level for the first time, and provide the basis for the mechanism research at the molecular level.
Detailed Description Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively invades superior and inferior motor neurons. Because there is no effective treatment, it is urgent to find the risk factors of ALS to guide the prevention and slow down the disease progression. In the early stage of the disease, the peripheral motor injury is more rapid and sensitive than the central response, which is an ideal window to observe the state of the disease. Protecting peripheral nerve integrity and maintaining its function can slow down the death of superior neurons, effectively relieve symptoms and prolong survival time, which has also been confirmed in patients with multiple stem cell-derived motor neurons and SOD1 G93A disease model mice. Reexamination of the role of peripheral motor nerve related factors in the development of ALS is of great significance for the study of disease mechanism, clinical classification, prognosis, evaluation of drug trial efficacy and individualized treatment plan. Previous studies have shown that NEFL gene, as the coding gene of light chain of neuron cytoskeleton, is closely related to axonal function, and its polymorphism is related to the occurrence and severity of axonal Charcot Marie Tooth disease. Exploring the role of similar peripheral nerve related genes in the progression of ALS will help us better understand the disease from the genetic level, establish an accurate and stable prognosis prediction model, and guide early treatment. This study will establish a comprehensive exon database of ALS patients, lay the foundation for screening the genes related to the occurrence and development of the disease, support the theory of ALS disease progression from peripheral to central, and reveal the correlation between the functional level of peripheral nerve and the prognosis of the disease at the gene level for the first time, and provide the basis for the mechanism research at the molecular level.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Amyotrophic lateral sclerosis patients in Peking University Third Hospital
Condition Amyotrophic Lateral Sclerosis
Intervention Diagnostic Test: Patient information collection, exon sequencing and follow-up.
Clinical baseline data, disease characteristics, auxiliary examination results, EMG examination results, drug use and other information were collected. 4-6ml peripheral blood was collected for exon sequencing. The patients were followed up every three months by a specialist in the form of outpatient or telephone.
Study Groups/Cohorts Amyotrophic lateral sclerosis patients group
Intervention: Diagnostic Test: Patient information collection, exon sequencing and follow-up.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: July 7, 2021)		 300
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2022
Estimated Primary Completion Date August 31, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. Since February 2021, he has been in the Department of Neurology, the Third Hospital of Beijing Medical University. He was diagnosed amyotrophic lateral sclerosis according to the revised EI Escorial diagnostic criteria of 2004 edition, and the patients within one year of onset.
  2. Informed consent has been signed.

Exclusion Criteria:

  1. Patients with ALS like syndrome caused by autoimmune diseases, paraneoplastic syndrome and simple demyelinating lesions were excluded.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Listed Location Countries China
Removed Location Countries  
 
Administrative Information
NCT Number NCT04953494
Other Study ID Numbers M2021051
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Peking University Third Hospital
Original Responsible Party Same as current
Current Study Sponsor Peking University Third Hospital
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators Not Provided
PRS Account Peking University Third Hospital
Verification Date July 2021