Spinal Muscular AtrophyNCT03300869
Natural History of Types 2 and 3 SMA in Taiwan
An observational study of Spinal Muscular Atrophy, run by Kaohsiung Medical University Chung-Ho Memorial Hospital at 1 site in Taiwan.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 months to 70 years
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 300 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Sep 2017to Dec 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Patients are diagnosed with SMA types 2 or 3
- 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.
- SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.
Who cannot join
- Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
- Type 1 SMA patients.
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung City, 807
Yun-Hui Chou, +886972977320, wendychoucrn@gmail.com
Yuh-Jyh Jong, MD
About this study
Official title: 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.
Read the 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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, Natural History
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: through study completion, an average of 2 years
Secondary outcomes (4)
Disease onset in patients with SMA types 2 and 3
Number of participants with disease onset as assessed by year
Measured: 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
Measured: 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
Measured: 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
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Oct 2017
- Study start1 Sep 2017
- Primary completionDec 2019 (estimated)
- Study completionDec 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Kaohsiung Medical University Chung-Ho Memorial HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen, National Taiwan University Hospital, Mackay Memorial Hospital, China Medical University Hospital, Changhua Christian Hospital, Chang Gung Memorial Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03300869
- Sponsor's protocol ID
- SMA_RV
- Status last verified
- Jul 2019
- First submitted
- 13 Sep 2017
- Last updated
- 26 Jul 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: There is not a plan to make IPD available
Study at a glance
From the registry record, last updated by the sponsor on 26 Jul 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan
- ClinicalTrials.gov ID
- NCT03300869
- Acronym / sponsor ID
- SMA_RV
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, Natural History
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Kaohsiung Medical University Chung-Ho Memorial HospitalUniversity, hospital or other
- Collaborators
- Biogen, National Taiwan University Hospital, Mackay Memorial Hospital, China Medical University Hospital, Changhua Christian Hospital, Chang Gung Memorial Hospital
- Study start
- 1 Sep 2017 (actual)
- Primary completion
- Dec 2019 (estimated)
- Study completion
- Dec 2019 (estimated)
- First posted
- 4 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Other
- Time perspective
- Retrospective
Who may qualify
- Ages
- 6 months to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- Patients are diagnosed with SMA types 2 or 3
- 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.
- SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.
Key exclusion criteria (2 listed)
- Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
- Type 1 SMA patients.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
4 secondary outcomes
Disease onset in patients with SMA types 2 and 3
Time frame: through study completion, an average of 2 years
Disease mortality in patients with SMA types 2 and 3
Time frame: through study completion, an average of 2 years
Scoliosis in patients with SMA types 2 and 3
Time frame: through study completion, an average of 2 years
BiPAP usage in patients with SMA types 2 and 3
Time frame: through study completion, an average of 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jul 2019.
- Individual participant dataSharing planned: No. There is not a plan to make IPD available
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Kaohsiung Medical University Chung-Ho Memorial Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 26 Jul 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yun-Hui Chou (+886972977320, wendychou3@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Describe the correlation of genotype and phenotype in SMA types 2 and 3 (time frame: through study completion, an average of 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jul 2019.