A Registered Cohort Study on SMA

September 19, 2019 updated by: Wan-Jin Chen

A Registered Cohort Study on Spinal Muscular Atrophy

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • China
    • Fujian
      • Fuzhou, Fujian, China, 350005
        • Recruiting
        • Department of Neurology, First Affiliated Hospital Fujian Medical University
        • Contact:
        • Principal Investigator:
          • Wan-Jin Chen, MD,PhD
        • Sub-Investigator:
          • Ning Wang, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 week to 70 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

SMA patients are diagnosed with SMN1 gene deletion or mutation.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The time to death
Time Frame: From date of enrollment until the date of death from any cause, assessed up to 20years
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.
From date of enrollment until the date of death from any cause, assessed up to 20years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Wan-Jin Chen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2019

Primary Completion (Anticipated)

December 31, 2039

Study Completion (Anticipated)

December 31, 2049

Study Registration Dates

First Submitted

July 1, 2019

First Submitted That Met QC Criteria

July 3, 2019

First Posted (Actual)

July 8, 2019

Study Record Updates

Last Update Posted (Actual)

September 23, 2019

Last Update Submitted That Met QC Criteria

September 19, 2019

Last Verified

September 1, 2019

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MRCTA,ECFAHOFFMU[2019]196

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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