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出境医 / 临床实验 / A Registered Cohort Study on SMA
A Registered Cohort Study on SMA
Study Description
Brief Summary:
Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.
| Condition or disease |
|---|
| Spinal Muscular Atrophy |
Study Design
| Study Type : | Observational |
| Estimated Enrollment : | 2000 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | A Registered Cohort Study on Spinal Muscular Atrophy |
| Actual Study Start Date : | July 1, 2019 |
| Estimated Primary Completion Date : | December 31, 2039 |
| Estimated Study Completion Date : | December 31, 2049 |
Arms and Interventions
| Group/Cohort |
|---|
| SMA type I |
| SMA type II |
| SMA type III |
| Asymptomatic carriers of SMA |
| Relatives of SMA patients and carriers |
| Unrelated healthy controls |
Outcome Measures
Primary Outcome Measures :
- The time to death [ Time Frame: From date of enrollment until the date of death from any cause, assessed up to 20years ]
- The correlation of genotype and phenotype [ Time Frame: From date of enrollment until the date of death from any cause, assessed up to 20years ]Genotype is defined by survival motor neuron (SMN) 2 copy number(s) and phenotype is defined by clinical types and characteristics.
Eligibility Criteria
| Ages Eligible for Study: | up to 70 Years (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Study Population
SMA patients are diagnosed with SMN1 gene deletion or mutation.
Criteria
Inclusion Criteria:
- Patients with SMA types I, II and III
- Asymptomatic SMA carriers
- Relatives of SMA patients or carriers
- Unrelated healthy controls
- Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process
Exclusion Criteria:
* Participants are unable to comply with trial procedures and visit schedule
Contacts and Locations
Contacts
| Contact: Yi Lin, PhD | 86-0591-87982772 | linyi7811@163.com | |
| Contact: Wan-Jian Chen, PhD | 86-0591-87982772 | wanjinchen75@fjmu.edu.cn |
Locations
| China, Fujian | |
| Department of Neurology, First Affiliated Hospital Fujian Medical University | Recruiting |
| Fuzhou, Fujian, China, 350005 | |
| Contact: Wan-Jin Chen, PhD 86-0591-87982772 ext +1386061359 wanjinchen75@fjmu.edu.cn | |
| Principal Investigator: Wan-Jin Chen, MD,PhD | |
| Sub-Investigator: Ning Wang, MD, PhD | |
Sponsors and Collaborators
Wan-Jin Chen
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | July 1, 2019 | ||||||||
| First Posted Date | July 8, 2019 | ||||||||
| Last Update Posted Date | September 23, 2019 | ||||||||
| Actual Study Start Date | July 1, 2019 | ||||||||
| Estimated Primary Completion Date | December 31, 2039 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
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| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | |||||||||
| 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 | A Registered Cohort Study on SMA | ||||||||
| Official Title | A Registered Cohort Study on Spinal Muscular Atrophy | ||||||||
| Brief Summary | Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted. | ||||||||
| Detailed Description | Not Provided | ||||||||
| Study Type | Observational | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
||||||||
| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Not Provided | ||||||||
| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | SMA patients are diagnosed with SMN1 gene deletion or mutation. | ||||||||
| Condition | Spinal Muscular Atrophy | ||||||||
| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts |
|
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| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
2000 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | December 31, 2049 | ||||||||
| Estimated Primary Completion Date | December 31, 2039 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria: * Participants are unable to comply with trial procedures and visit schedule |
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| Sex/Gender |
|
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| Ages | up to 70 Years (Child, Adult, Older Adult) | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts |
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| Listed Location Countries | China | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT04010604 | ||||||||
| Other Study ID Numbers | MRCTA,ECFAHOFFMU[2019]196 | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| U.S. FDA-regulated Product |
|
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| IPD Sharing Statement |
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| Responsible Party | Wan-Jin Chen, First Affiliated Hospital of Fujian Medical University | ||||||||
| Study Sponsor | Wan-Jin Chen | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators | Not Provided | ||||||||
| PRS Account | First Affiliated Hospital of Fujian Medical University | ||||||||
| Verification Date | September 2019 | ||||||||
