NCT02231697

Brief 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 studies.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
161

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Sep 2014

Longer than P75 for all trials

Geographic Reach
2 countries

8 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 28, 2014

Completed
4 days until next milestone

Study Start

First participant enrolled

September 1, 2014

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 4, 2014

Completed
5.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2019

Completed
Last Updated

July 29, 2022

Status Verified

July 1, 2022

Enrollment Period

5.3 years

First QC Date

August 28, 2014

Last Update Submit

July 27, 2022

Conditions

Males With X-linked Myotubular Myopathy (XLMTM)

Keywords

XLMTM

Outcome Measures

Primary Outcomes (1)

  • Survival

    Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients

    Lifetime, up to 50 years

Secondary Outcomes (3)

  • Age at diagnosis

    Lifetime, up to 50 years

  • Age at tracheostomy (if applicable)

    Lifetime, up to 50 years

  • Age at need for/type of ventilation (if applicable)

    Lifetime, up to 50 years

Study Arms (2)

XLMTM patients - deceased

Non-interventional, retrospective medical chart review

Other: Non-interventional, retrospective medical chart review

XLMTM patients - living

Non-interventional, retrospective medical chart review

Other: Non-interventional, retrospective medical chart review

Interventions

Non-interventional, retrospective medical chart reviewOTHER

Non-interventional, retrospective medical chart review

XLMTM patients - deceasedXLMTM patients - living

Eligibility Criteria

Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Males with X-linked myotubular myopathy

You may qualify if:

  • 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

You may not qualify if:

  • Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (8)

Cure CMD

San Pedro, California, 90732, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

University of Florida - Gainesville, Children's Research Institute

Gainesville, Florida, 32610, United States

Location

Lurie Children's Hospital

Chicago, Illinois, 60611, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Great Ormond Street Hospital

London, United Kingdom

Location

Royal Manchester Children's Hospital

Manchester, United Kingdom

Location

Related Publications (1)

  • 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.

    PMID: 31484632DERIVED

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System Diseases

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
RETROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 28, 2014

First Posted

September 4, 2014

Study Start

September 1, 2014

Primary Completion

December 1, 2019

Study Completion

December 1, 2019

Last Updated

July 29, 2022

Record last verified: 2022-07

Locations

US(6)GB(2)