Actively Recruiting

Age: 1Week - 70Years
All Genders
Healthy Volunteers
ID04010604

A Registered Cohort Study on Spinal Muscular Atrophy

Led by Wan-Jin Chen · Updated on 2019-09-23

2000

Participants Needed

1

Research Sites

521 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Spinal muscular atrophy (SMA) is a genetic condition that leads to weakening and wasting of muscles due to loss of nerve cells in the spinal cord. This registered cohort study focuses on individuals in China with SMA types I, II, and III, as well as asymptomatic carriers, relatives of patients, and healthy controls. The study aims to better understand the clinical progression of SMA, including survival, motor function, respiratory and nutritional support, growth, development, and how genetic factors relate to symptoms. Participants include people with SMA types I, II, and III, asymptomatic carriers, relatives of those with SMA, and unrelated healthy individuals. There are no experimental treatments; instead, this observational study follows participants over time to monitor health changes and disease progression. The study began in July 2019 and plans to observe participants for up to 20 years. During the study, researchers collect information on survival time, genetic and symptom correlations, motor abilities, respiratory and feeding support, growth, and development. Regular visits and assessments are conducted to track these factors. The study provides long-term monitoring to gain insights into SMA outcomes and support needs, helping improve understanding for patients and families.

CONDITIONS

Brief Title

A Registered Cohort Study on SMA

Who Can Participate

Age: 1Week - 70Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • 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
Not Eligible

You will not qualify if you...

  • Participants are unable to comply with trial procedures and visit schedule

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 20 years

Participants are observed over an extended period to assess disease progression and genotype-phenotype correlation.

Periodic visits scheduled over the monitoring period

Trial Site Locations

Total: 1 location

1

Department of Neurology, First Affiliated Hospital Fujian Medical University

Fuzhou, Fujian, China, 350005

Actively Recruiting

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Research Team

Y

Yi Lin, PhD

W

Wan-Jian Chen, PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

6

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