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

X-linked Myotubular Myopathy Clinical Trial

— INCEPTUS  

Official title:

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02704273
• Other study ID #: ATX-MTM-009 INCEPTUS
• Status: Completed
• Start date: July 2016
• Est. completion date: September 2019

Study information

• Verified date: July 2022
• Source: Astellas Pharma Inc
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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 evaluation of potential therapies.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 34
• Est. completion date: September 2019
• Est. primary completion date: September 2019
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A to 3 Years

Eligibility

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

Related Conditions & MeSH terms

• Muscular Diseases
• X-linked Myotubular Myopathy

Locations

Country	Name	City	State
Canada	Hospital for Sick Children	Toronto	Ontario
France	Hopital Armand Trousseau	Paris
Germany	Ludwig-Maximilians Universität München	Munich
United Kingdom	Great Ormond Street Hospital	London
United States	National Institute of Neurological Disorders and Stroke/NIH Porter	Bethesda	Maryland
United States	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois
United States	University of Florida	Gainesville	Florida
United States	UCLA	Los Angeles	California

Sponsors (1)

Lead Sponsor	Collaborator
Astellas Gene Therapies

Countries where clinical trial is conducted

United States,  Canada,  France,  Germany,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax		3 months to 2 years
Primary	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	Characterize quality of life as measured by PedsQL		3 months to 2 years