Males With X-linked Myotubular Myopathy (XLMTM)NCT02231697
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
An observational study of Males With X-linked Myotubular Myopathy (XLMTM), run by Astellas Gene Therapies at 8 sites in 2 countries.
Trial summary
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention… Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Males With X-linked Myotubular Myopathy (XLMTM)
- What is being tested?
- Non-interventional, retrospective medical chart review
- How many people
- 161 participants
- Where
- 8 sitesin 2 countries
- Study dates
- Sep 2014to 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 Any age
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Males with X-linked myotubular myopathy
Who may be able to join
- Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or a combination of XLMTM genetically confirmed family history and muscle biopsy
- Patient is male
- Access to available medical records for each patient
- Signed informed consent by the parent(s) or legal guardians and/or assent by the patient (when applicable), unless the associated IRB provides an appropriate consent waiver
Who cannot join
- Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)
Trial locations and contacts
8 sites in 2 countries.
8 sites in 2 countries
United States6 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
Boston Children's Hospital
Boston, Massachusetts, 02115
Lurie Children's Hospital
Chicago, Illinois, 60611
University of Florida - Gainesville, Children's Research Institute
Gainesville, Florida, 32610
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Cure CMD
San Pedro, California, 90732
United Kingdom2 sites
Great Ormond Street Hospital
London
Royal Manchester Children's Hospital
Manchester
About this study
Official title: The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.
- Being tested
- Non-interventional, retrospective medical chart review
- Keywords
- XLMTM
- Medical subject headings
- Myopathies, Structural, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non-interventional, retrospective medical chart reviewOther
Non-interventional, retrospective medical chart review
| Study group | Role | What they receive |
|---|---|---|
| XLMTM patients - deceased | Non-interventional, retrospective medical chart review Receives: Other: Non-interventional, retrospective medical chart review | |
| XLMTM patients - living | Non-interventional, retrospective medical chart review Receives: Other: Non-interventional, retrospective medical chart review |
What is being measured
The primary outcome is the main question the study is designed to answer.
Survival
Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients
Measured: Lifetime, up to 50 years
Secondary outcomes (3)
Age at diagnosis
Descriptive statistics: mean, median, range for age of definitive diagnosis
Measured: Lifetime, up to 50 years
Age at tracheostomy (if applicable)
Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
Measured: Lifetime, up to 50 years
Age at need for/type of ventilation (if applicable)
Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation
Measured: Lifetime, up to 50 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Sep 2014 (estimated)
- Study startSep 2014
- Primary completionDec 2019
- Study completionDec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Males With X-linked Myotubular Myopathy (XLMTM)Studies 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
- Other
- Time perspective
- Retrospective
- Enrolment
- 161 participants (actual)
Sponsor and investigators
- Lead sponsor
- Astellas Gene Therapies
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02231697
- Sponsor's protocol ID
- ATX-MTM-001 RECENSUS
- Status last verified
- Jul 2022
- First submitted
- 28 Aug 2014
- Last updated
- 29 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
Publications
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 Apr;105(4):332-338. doi: 10.1136/archdischild-2019-317910. Epub 2019 Sep 4.
PubMed 31484632
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
- The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
- ClinicalTrials.gov ID
- NCT02231697
- Acronym / sponsor ID
- ATX-MTM-001 RECENSUS
- Keywords
- XLMTM
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 161 participants (actual)
- Lead sponsor
- Astellas Gene TherapiesIndustry (pharma, biotech, devices)
- Study start
- Sep 2014
- Primary completion
- Dec 2019 (actual)
- Study completion
- Dec 2019 (actual)
- First posted
- 4 Sep 2014 (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 retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| XLMTM patients - deceased | – | Other: Non-interventional, retrospective medical chart reviewNon-interventional, retrospective medical chart review |
| XLMTM patients - living | – | Other: Non-interventional, retrospective medical chart reviewNon-interventional, retrospective medical chart review |
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Males with X-linked myotubular myopathy
Key inclusion criteria (4 listed)
- Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or a combination of XLMTM genetically confirmed family history and muscle biopsy
- Patient is male
- Access to available medical records for each patient
- Signed informed consent by the parent(s) or legal guardians and/or assent by the patient (when applicable), unless the associated IRB provides an appropriate consent waiver
Key exclusion criteria (1 listed)
- Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Non-interventional, retrospective medical chart reviewNon-interventional, retrospective medical chart review | Other | XLMTM patients - deceased, XLMTM patients - living |
Primary outcome
Survival
Time frame: Lifetime, up to 50 years
Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients
3 secondary outcomes
Age at diagnosis
Time frame: Lifetime, up to 50 years
Age at tracheostomy (if applicable)
Time frame: Lifetime, up to 50 years
Age at need for/type of ventilation (if applicable)
Time frame: Lifetime, up to 50 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.
- Derived from this study: PubMed 31484632Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 Apr;105(4):332-338. doi: 10.1136/archdischild-2019-317910. Epub 2019 Sep 4.
Related trials for Males With X-linked Myotubular Myopathy (XLMTM)
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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.
8 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Males With X-linked Myotubular Myopathy (XLMTM), run by Astellas Gene Therapies at 8 sites in 2 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 4 inclusion and 1 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, 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?
Survival (time frame: Lifetime, up to 50 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02231697, which also lists 1 linked publication.
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.