X-linked Myotubular MyopathyINCEPTUSNCT02704273
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
An observational study of X-linked Myotubular Myopathy, run by Astellas Gene Therapies at 8 sites in 5 countries.
Trial summary
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future… Read more about this study
- Who is it for?
- Ages Up to 3 years, men only
- Conditions the study is for
- X-linked Myotubular Myopathy
- How many people
- 34 participants
- Where
- 8 sitesin 5 countries
- Study dates
- Jul 2016to Sep 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 Up to 3 years
- Men only
- No healthy volunteers
- Child
Study population: XLMTM subjects aged 3 years and younger.
Who may be able to join
- Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
- Subject is male
- Subject is aged less than 4 years
- Subject requires some mechanical ventilatory support (eg, ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BiPAP] during sleeping hours)
- Access to subject's medical records
- Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable)
- Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures
Who cannot join
- Subject is participating in an interventional study designed to treat XLMTM
- Subject born <35 weeks gestation who is still not to term as per corrected age
- Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator
- Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment
Trial locations and contacts
8 sites in 5 countries.
8 sites in 5 countries
United States4 sites
National Institute of Neurological Disorders and Stroke/NIH Porter
Bethesda, Maryland, 20892
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
University of Florida
Gainesville, Florida, 32610
UCLA
Los Angeles, California, 90095
About this study
Official title: INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.
- Conditions
- X-linked Myotubular Myopathy
- Keywords
- MTM, XLMTM
- Medical subject headings
- Myopathies, Structural, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax
Measured: 3 months to 2 years
Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20
Measured: 3 months to 2 years
Secondary outcomes (1)
Characterize quality of life as measured by PedsQL
Measured: 3 months to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Mar 2016 (estimated)
- Study startJul 2016
- Primary completionSep 2019
- Study completionSep 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked Myotubular MyopathyStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 34 participants (actual)
Sponsor and investigators
- Lead sponsor
- Astellas Gene Therapies
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Salvador Rico, MD, PhD, Study director, Audentes Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02704273
- Sponsor's protocol ID
- ATX-MTM-009 INCEPTUS
- Acronym
- INCEPTUS
- Status last verified
- Jul 2022
- First submitted
- 1 Mar 2016
- Last updated
- 29 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
- ClinicalTrials.gov ID
- NCT02704273
- Acronym / sponsor ID
- INCEPTUS / ATX-MTM-009 INCEPTUS
- Conditions
- X-linked Myotubular Myopathy
- Keywords
- MTM, XLMTM
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 34 participants (actual)
- Lead sponsor
- Astellas Gene TherapiesIndustry (pharma, biotech, devices)
- Study start
- Jul 2016
- Primary completion
- Sep 2019 (actual)
- Study completion
- Sep 2019 (actual)
- First posted
- 10 Mar 2016 (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.
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 3 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- XLMTM subjects aged 3 years and younger.
Key inclusion criteria (7 listed)
- Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
- Subject is male
- Subject is aged less than 4 years
- Subject requires some mechanical ventilatory support (eg, ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BiPAP] during sleeping hours)
- Access to subject's medical records
Key exclusion criteria (4 listed)
- Subject is participating in an interventional study designed to treat XLMTM
- Subject born <35 weeks gestation who is still not to term as per corrected age
- Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator
- Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment
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
Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax
Time frame: 3 months to 2 years
Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20
Time frame: 3 months to 2 years
1 secondary outcome
Characterize quality of life as measured by PedsQL
Time frame: 3 months to 2 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 29 Jul 2022.
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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.
Salvador Rico, MD, PhD study director
Audentes Therapeutics
8 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Myotubular Myopathy, run by Astellas Gene Therapies at 8 sites in 5 countries.
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 4 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 29 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United States, Canada, France, Germany, United Kingdom. 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?
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?
Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax (time frame: 3 months to 2 years). The study lists 2 primary outcomes in all. 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 29 Jul 2022.