Ignite Creation Date:
2025-12-25 @ 2:00 AM
Ignite Modification Date:
2025-12-26 @ 12:24 AM
Study NCT ID:
NCT04953494
Status:
UNKNOWN
Last Update Posted:
2021-07-08
First Post:
2021-06-27
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis
Sponsor:
Peking University Third Hospital
Organization:
Study Overview
Official Title:
Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis
Status:
UNKNOWN
Status Verified Date:
2021-07
Last Known Status:
NOT_YET_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: