Natural History of Type 1 Spinal Muscular Atrophy (SMA)NCT02466529
Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
An observational study of Natural History of Type 1 Spinal Muscular Atrophy (SMA), run by Kaohsiung Medical University Chung-Ho Memorial Hospital.
Trial summary
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene. Read more about this study
- Who is it for?
- Ages Up to 36 years
- Conditions the study is for
- Natural History of Type 1 Spinal Muscular Atrophy (SMA)
- How many people
- 111 participants
- Where
- No sites listed yet
- Study dates
- Jun 2015to Dec 2015
- 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 Up to 36 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Spinal muscular atrophy Type 1
Who may be able to join
- Jan. 1979~ 30 Jun. 2014 diagnosed with Spinal Muscular Atrophy (SMA)Type 1
- Onset of paralytic floppy infant less than 6 months of age
- Generalized hypotonia and symmetric weakness, which weakness is more severe in proximal than distal part of extremities
- Weakness in the legs is greater than in the arms
- Tendon reflexes are absent
- Neurogenic changes in electromyogram and/or muscle pathology
- SMN1 gene deletion or mutation
Who cannot join
- Non-5q SMA (no deletion or mutation of SMN1 gene)
- SMA type 2, type 3 or type 4 (onset of SMA after 6 months of age)
About this study
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.
The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
Read the detailed description
The primary objective of this study is to investigate the natural history of patients with spinal muscular atrophy (SMA) type 1 in Taiwan. This study will provide further insights into the clinical course and pathogenesis of SMA. Several analyses will be conducted regarding overall survival, respiratory support, feeding and nutritional support. The following outcome variables will be examined: correlation between SMA genotype and phenotype, survival, age of onset, and age of confirmed diagnosis, proportion of patients using non-invasive and invasive respiratory support, time to first use of respiratory support, proportion of patients on permanent ventilation, and time to permanent ventilation, number and average duration of hospitalizations, proportion of patients with gastrostomy, number of non-serious and serious respiratory infections, trend of growth parameter (e.g., body weight).
- Keywords
- type 1 spinal muscular atrophy (SMA)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| type 1 spinal muscular atrophy | The age of onset of patients with type 1 SMA is below 6 months of age. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Age of death
participants will be followed till the age of death
Measured: up to 36 years
Secondary outcomes (1)
Age of permanent ventilation
participants will be followed till ventilation used 24 hours/day
Measured: up to 36 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2015 (estimated)
- Study startJun 2015
- Primary completionDec 2015
- Study completionDec 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Natural History of Type 1 Spinal Muscular Atrophy (SMA)Studies 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
- Case only
- Time perspective
- Retrospective
- Enrolment
- 111 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen, Taipei Medical University WanFang Hospital, Taipei Veterans General Hospital, Taiwan, Mackay Memorial Hospital, Chang Gung Memorial Hospital, China Medical University Hospital, Chung Shan Medical University, Changhua Christian Hospital, Taichung Veterans General Hospital, Chi Mei Medical Hospital, Cathay General Hospital, Shin Kong Wu Ho-Su Memorial Hospital, Kaohsiung Veterans General Hospital., National Cheng-Kung University Hospital, Buddhist Tzu Chi General Hospital, Kaohsiung Medical University, Taipei Medical University Shuang Ho Hospital, National Taiwan University Hospital, Taipei Medical University Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02466529
- Sponsor's protocol ID
- SMA-NHR10311
- Status last verified
- Feb 2017
- First submitted
- 2 Jun 2015
- Last updated
- 22 Jun 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
- ClinicalTrials.gov ID
- NCT02466529
- Acronym / sponsor ID
- SMA-NHR10311
- Keywords
- type 1 spinal muscular atrophy (SMA)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 111 participants (actual)
- Lead sponsor
- Kaohsiung Medical University Chung-Ho Memorial HospitalUniversity, hospital or other
- Collaborators
- Biogen, Taipei Medical University WanFang Hospital, Taipei Veterans General Hospital, Taiwan, Mackay Memorial Hospital, Chang Gung Memorial Hospital, China Medical University Hospital, Chung Shan Medical University, Changhua Christian Hospital, Taichung Veterans General Hospital, Chi Mei Medical Hospital, Cathay General Hospital, Shin Kong Wu Ho-Su Memorial Hospital, Kaohsiung Veterans General Hospital., National Cheng-Kung University Hospital, Buddhist Tzu Chi General Hospital, Kaohsiung Medical University, Taipei Medical University Shuang Ho Hospital, National Taiwan University Hospital, Taipei Medical University Hospital
- Study start
- Jun 2015
- Primary completion
- Dec 2015 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 9 Jun 2015 (estimated)
- 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.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.
The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
Detailed description
The primary objective of this study is to investigate the natural history of patients with spinal muscular atrophy (SMA) type 1 in Taiwan. This study will provide further insights into the clinical course and pathogenesis of SMA. Several analyses will be conducted regarding overall survival, respiratory support, feeding and nutritional support. The following outcome variables will be examined: correlation between SMA genotype and phenotype, survival, age of onset, and age of confirmed diagnosis, proportion of patients using non-invasive and invasive respiratory support, time to first use of respiratory support, proportion of patients on permanent ventilation, and time to permanent ventilation, number and average duration of hospitalizations, proportion of patients with gastrostomy, number of non-serious and serious respiratory infections, trend of growth parameter (e.g., body weight).
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| type 1 spinal muscular atrophy | – | –The age of onset of patients with type 1 SMA is below 6 months of age. |
Who may qualify
- Ages
- Up to 36 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Spinal muscular atrophy Type 1
Key inclusion criteria (7 listed)
- Jan. 1979~ 30 Jun. 2014 diagnosed with Spinal Muscular Atrophy (SMA)Type 1
- Onset of paralytic floppy infant less than 6 months of age
- Generalized hypotonia and symmetric weakness, which weakness is more severe in proximal than distal part of extremities
- Weakness in the legs is greater than in the arms
- Tendon reflexes are absent
Key exclusion criteria (2 listed)
- Non-5q SMA (no deletion or mutation of SMN1 gene)
- SMA type 2, type 3 or type 4 (onset of SMA after 6 months of age)
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
Age of death
Time frame: up to 36 years
participants will be followed till the age of death
1 secondary outcome
Age of permanent ventilation
Time frame: up to 36 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2017.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Natural History of Type 1 Spinal Muscular Atrophy (SMA), run by Kaohsiung Medical University Chung-Ho Memorial Hospital.
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 7 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: finished, as of the sponsor's last update on 22 Jun 2017. Status can change between updates, so confirm with the study contact before making plans.
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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age of death (time frame: up to 36 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 22 Jun 2017.