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

NCT02704273 | Completed

• 1 other identifier: ATX-MTM-009 INCEPTUS
• Study Type: observational
• Target: 34
• Locations: 5 countries
• Sites: 8

Brief 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 evaluation of potential therapies.

Conditions

X-linked Myotubular Myopathy

Keywords

MTM; XLMTM

Outcome Measures

Primary Outcomes (2)

• Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax

  3 months to 2 years

• Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20

  3 months to 2 years

Secondary Outcomes (1)

• Characterize quality of life as measured by PedsQL

  3 months to 2 years

Eligibility Criteria

• Age: Up to 3 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

XLMTM subjects aged 3 years and younger.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Astellas Gene Therapies: lead

Study Sites (8)

UCLA

Los Angeles, California, 90095, United States

Location

University of Florida

Gainesville, Florida, 32610, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

National Institute of Neurological Disorders and Stroke/NIH Porter

Bethesda, Maryland, 20892, United States

Location

Hospital for Sick Children

Toronto, Ontario, M5G0A4, Canada

Location

Hopital Armand Trousseau

Paris, 75012, France

Location

Ludwig-Maximilians Universität München

Munich, 803337, Germany

Location

Great Ormond Street Hospital

London, United Kingdom

Location

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Salvador Rico, MD, PhD

  Audentes Therapeutics

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 1, 2016
• First Posted: March 10, 2016
• Study Start: July 1, 2016
• Primary Completion: September 1, 2019
• Study Completion: September 1, 2019
• Last Updated: July 29, 2022

Record last verified: 2022-07

Locations

DE (1); FR (1); CA (1); GB (1); US (4)