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A Registered Cohort Study on SMA

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ClinicalTrials.gov Identifier: NCT04010604
Recruitment Status : Recruiting
First Posted : July 8, 2019
Last Update Posted : September 23, 2019
Sponsor:
Information provided by (Responsible Party):
Wan-Jin Chen, First Affiliated Hospital of Fujian Medical University

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

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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


Group/Cohort
SMA type I
SMA type II
SMA type III
Asymptomatic carriers of SMA
Relatives of SMA patients and carriers
Unrelated healthy controls



Primary Outcome Measures :
  1. The time to death [ Time Frame: From date of enrollment until the date of death from any cause, assessed up to 20years ]
  2. 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.



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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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04010604


Contacts
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Contact: Yi Lin, PhD 86-0591-87982772 linyi7811@163.com
Contact: Wan-Jian Chen, PhD 86-0591-87982772 wanjinchen75@fjmu.edu.cn

Locations
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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

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Responsible Party: Wan-Jin Chen, The Vice-Director for the Department of Neurology, First Affiliated Hospital of Fujian Medical University
ClinicalTrials.gov Identifier: NCT04010604     History of Changes
Other Study ID Numbers: MRCTA,ECFAHOFFMU[2019]196
First Posted: July 8, 2019    Key Record Dates
Last Update Posted: September 23, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases