Natural History of Types 2 and 3 SMA in Taiwan

Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan

The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.

Study Overview

• Status: Unknown
• Conditions: Spinal Muscular Atrophy

Detailed Description

As with other rare diseases, individual groups of SMA have therefore opted to share patient information in the form of clinical sites to increase the overall patient cohorts on which clinical outcomes and new assisted-healthcare technologies can be assessed. Using the collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate the onset, progression, management with disease outcome, 3) depict comorbidity and within type 2 and 3 SMA patients with different SMN2 copy number.

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

Study Locations

• Taiwan
  • Kaohsiung, Taiwan, 807
    • Recruiting
    • Kaohsiung Medical University Chung-Ho Memorial Hospital
    • Principal Investigator: Yuh-Jyh Jong, MD
    • Contact: Yun-Hui Chou; Phone Number: +886972977320; Email: wendychoucrn@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months to 70 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

In the past decades, The SMA is a rare disease (incidence of 1 in every 6,000-10,000 live births) with a carrier frequency of about 1 in 40-50 people. Therefore, individual countries have small cohorts of affected patients.

Description

Inclusion Criteria:

1. Patients are diagnosed with SMA types 2 or 3
2. Generalized hypotonia and muscle weakness, weakness of the legs is greater than the arms, and the proximal part is weaker than distal part of extremities.
3. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.

Exclusion Criteria:

1. Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
2. Type 1 SMA patients.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Describe the correlation of genotype and phenotype in SMA types 2 and 3	Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.	through study completion, an average of 2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Disease onset in patients with SMA types 2 and 3	Number of participants with disease onset as assessed by year	through study completion, an average of 2 years
Disease mortality in patients with SMA types 2 and 3	Number of participants with disease mortality as assessed by year	through study completion, an average of 2 years
Scoliosis in patients with SMA types 2 and 3	Number of participants with scoliosis as assessed by year	through study completion, an average of 2 years
BiPAP usage in patients with SMA types 2 and 3	Number of participants with BiPAP usage as assessed by year	through study completion, an average of 2 years

Collaborators and Investigators

• Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Collaborators: National Taiwan University Hospital; Mackay Memorial Hospital; China Medical University Hospital; Chang Gung Memorial Hospital; Biogen; Changhua Christian Hospital

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2017
• Primary Completion (Anticipated): December 1, 2019
• Study Completion (Anticipated): December 1, 2019

Study Registration Dates

• First Submitted: September 13, 2017
• First Submitted That Met QC Criteria: October 2, 2017
• First Posted (Actual): October 4, 2017

Study Record Updates

• Last Update Posted (Actual): July 26, 2019
• Last Update Submitted That Met QC Criteria: July 24, 2019
• Last Verified: July 1, 2019

More Information

Terms related to this study

• Keywords: Natural History; Spinal Muscular Atrophy
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: SMA_RV

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: There is not a plan to make IPD available

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No