Cohort study on spinal muscular atrophy in China
A Registered Cohort Study on Spinal Muscular Atrophy
This study is trying to learn more about spinal muscular atrophy by looking at how it affects different patients in China and how their genes relate to their symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Ages | 1 Week to 70 Years |
| Sex | All |
| Sponsor | First Affiliated Hospital of Fujian Medical University Academic / other |
| Locations | 1 site (Fuzhou, Fujian) |
| Trial ID | NCT04010604 on ClinicalTrials.gov |
What this trial studies
This observational cohort study focuses on spinal muscular atrophy (SMA), a genetic disorder characterized by progressive muscle weakness due to motor neuron loss. It aims to gather comprehensive data on SMA types I, II, and III, including patient demographics, clinical progression, motor function, and nutritional support. The study will also explore the relationship between genotype and phenotype among participants, which includes patients, carriers, and healthy controls. By analyzing these factors, the study seeks to enhance understanding of SMA's clinical course.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with SMA types I, II, or III, asymptomatic carriers, relatives of affected individuals, and healthy controls.
Not a fit: Patients who are unable to comply with trial procedures or visit schedules may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights that improve management and treatment strategies for patients with spinal muscular atrophy.
How similar studies have performed: While there have been studies on SMA, this cohort approach focusing on a comprehensive analysis of clinical characteristics and genotype-phenotype correlation is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Fuzhou, Fujian
- Department of Neurology, First Affiliated Hospital Fujian Medical University — Fuzhou, Fujian, China (Recruiting)
Study contacts
- Study coordinator: Yi Lin, PhD
- Email: linyi7811@163.com
- Phone: 86-0591-87982772
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.