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Natural History of Types 2 and 3 SMA in Taiwan

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ClinicalTrials.gov Identifier: NCT03300869
Recruitment Status : Recruiting
First Posted : October 4, 2017
Last Update Posted : July 26, 2019
Sponsor:
Collaborators:
Biogen
National Taiwan University Hospital
Mackay Memorial Hospital
China Medical University Hospital
Changhua Christian Hospital
Chang Gung Memorial Hospital
Information provided by (Responsible Party):
Kaohsiung Medical University Chung-Ho Memorial Hospital

Brief Summary:
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.

Condition or disease
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.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Other
Time Perspective: Retrospective
Official Title: Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan
Actual Study Start Date : September 1, 2017
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : December 2019





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


Secondary Outcome Measures :
  1. Disease onset in patients with SMA types 2 and 3 [ Time Frame: through study completion, an average of 2 years ]
    Number of participants with disease onset as assessed by year

  2. Disease mortality in patients with SMA types 2 and 3 [ Time Frame: through study completion, an average of 2 years ]
    Number of participants with disease mortality as assessed by year

  3. Scoliosis in patients with SMA types 2 and 3 [ Time Frame: through study completion, an average of 2 years ]
    Number of participants with scoliosis as assessed by year

  4. BiPAP usage in patients with SMA types 2 and 3 [ Time Frame: through study completion, an average of 2 years ]
    Number of participants with BiPAP usage as assessed by year



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Ages Eligible for Study:   6 Months to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03300869


Contacts
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Contact: Yun-Hui Chou +886972977320 wendychou3@gmail.com

Locations
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Taiwan
Kaohsiung Medical University Chung-Ho Memorial Hospital Recruiting
Kaohsiung, Taiwan, 807
Contact: Yun-Hui Chou    +886972977320    wendychoucrn@gmail.com   
Principal Investigator: Yuh-Jyh Jong, MD         
Sponsors and Collaborators
Kaohsiung Medical University Chung-Ho Memorial Hospital
Biogen
National Taiwan University Hospital
Mackay Memorial Hospital
China Medical University Hospital
Changhua Christian Hospital
Chang Gung Memorial Hospital

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Responsible Party: Kaohsiung Medical University Chung-Ho Memorial Hospital
ClinicalTrials.gov Identifier: NCT03300869     History of Changes
Other Study ID Numbers: SMA_RV
First Posted: October 4, 2017    Key Record Dates
Last Update Posted: July 26, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: There is not a plan to make IPD available

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Kaohsiung Medical University Chung-Ho Memorial Hospital:
Spinal Muscular Atrophy
Natural History
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases