Recruiting

NCT Number: NCT04010604

A Registered Cohort Study on SMA

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.

Recruiting

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

1 week–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Neurology, First Affiliated Hospital Fujian Medical University

Fuzhou, Fujian, 350005, China

Location status: Recruiting

Location contact

Ning Wang, MD, PhD

SUB_INVESTIGATOR

Wan-Jin Chen, MD,PhD

PRINCIPAL_INVESTIGATOR

Wan-Jin Chen, PhD

CONTACT

[email protected]

86-0591-87982772 ext. +1386061359

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.

Study contacts

Contact information is provided by the study sponsor or research team.

Wan-Jian Chen, PhD

CONTACT

[email protected]

86-0591-87982772

Yi Lin, PhD

CONTACT

[email protected]

86-0591-87982772

Sponsors and collaborators

Lead sponsor

Wan-Jin Chen

Other

Registry information

Official study title

A Registered Cohort Study on Spinal Muscular Atrophy

Important dates

Study start: 2019
Primary completion: 2039
Study completion: 2049
First posted: Jul 8, 2019
Registry last updated: Sep 23, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting