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

Title: 
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)
Recruitment Status: 
Completed
Status Last Updated: 
June 15, 2021
Clinical Phenotype(s): 
Myotubular Myopathy, X-linked - XLMTM/MTM1
Gene(s): 
MTM1
Study Purpose: 

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.

Intervention/Treatment: 
Natural History Study
Phase: 
Early Phase 1
Study Description: 

See Study Purpose.

Study Type: 
Observational
Official Title: 
INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
Study Start Date: 
July 2016
Study Completion Date: 
March 2023
Primary Objective(s): 
  1. 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 ]
  2. 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 ]
Secondary Objective(s): 
  1. Characterize quality of life as measured by PedsQL [ Time Frame: 3 months to 2 years ]
Eligibility: 

Ages Eligible for Study: Up to 3 Years (Child)

Sexes Eligible for Study: Male

Accepts Healthy Volunteers: No

Sampling Method: Non-Probability Sample

Inclusion Criteria: 
  1. Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
  2. Subject is male
  3. Subject is aged less than 4 years
  4. 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)
  5. Access to subject's medical records
  6. Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable)
  7. Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures
Exclusion Criteria: 
  1. Subject is participating in an interventional study designed to treat XLMTM
  2. Subject born <35 weeks gestation who is still not to term as per corrected age
  3. Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator
  4. Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment
Study Site(s)/Location(s): 

United States, California - UCLA - Los Angeles, California, United States, 90095

United States, Florida - University of Florida - Gainesville, Florida, United States, 32610

United States, Illinois - Ann & Robert H. Lurie Children's Hospital of Chicago - Chicago, Illinois, United States, 60611

United States, Maryland - National Institute of Neurological Disorders and Stroke/NIH Porter - Bethesda, Maryland, United States, 20892

Canada, Ontario - Hospital for Sick Children - Toronto, Ontario, Canada, M5G0A4

France - Hopital Armand Trousseau - Paris, France, 75012 

Germany - Ludwig-Maximilians Universität München - Munich, Germany, 803337 

United Kingdom - Great Ormond Street Hospital - London, United Kingdom

Sponsors & Collaborators: 

Audentes Therapeutics

Principal Investigator(s): 

Study Director: Salvador Rico, MD, PhD

Audentes Therapeutics

ClinicalTrials.gov ID: 
NCT02704273