A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

July 27, 2022 updated by: Astellas Gene Therapies

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

34

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada, M5G0A4
        • Hospital for sick children
  • France
      • Paris, France, 75012
        • Hôpital Armand Trousseau
  • Germany
      • Munich, Germany, 803337
        • Ludwig-Maximilians Universitat Munchen
  • United Kingdom
      • London, United Kingdom
        • Great Ormond Street Hospital
  • United States
    • California
      • Los Angeles, California, United States, 90095
        • UCLA
    • Florida
      • Gainesville, Florida, United States, 32610
        • University of Florida
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Ann & Robert H. Lurie Children's Hospital of Chicago
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institute of Neurological Disorders and Stroke/NIH Porter

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 1 year (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

XLMTM subjects aged 3 years and younger.

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
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
3 months to 2 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Characterize quality of life as measured by PedsQL
Time Frame: 3 months to 2 years
3 months to 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Astellas Gene Therapies

Investigators

  • Study Director: Salvador Rico, MD, PhD, Audentes Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2016

Primary Completion (Actual)

September 1, 2019

Study Completion (Actual)

September 1, 2019

Study Registration Dates

First Submitted

March 1, 2016

First Submitted That Met QC Criteria

March 4, 2016

First Posted (Estimate)

March 10, 2016

Study Record Updates

Last Update Posted (Actual)

July 29, 2022

Last Update Submitted That Met QC Criteria

July 27, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ATX-MTM-009 INCEPTUS

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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