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INCEPTUS: A Non-Interventional Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM)

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

Study Start:  July 2016
 
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.

The primary objective of the study is as follows:

  • To characterize the disease course and natural history of children with XLMTM, with a specific focus on respiratory and neuromuscular measurements

The secondary objective of the study is as follows:

  • To assess the burden of disease in XLMTM subjects and caregivers


Eligibility

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 ≤3 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

Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02704273
Contacts at Audentes
Contact: Tristen Moors, MS 415.818.1041 This e-mail address is being protected from spambots. You need JavaScript enabled to view it  
Contact: Shawn Jones 415.818.1036 This e-mail address is being protected from spambots. You need JavaScript enabled to view it

Study Sites
United States, California
UCLA Recruiting
Los Angeles, California, United States, 90095
Contact: Katrina Nguyen    310-825-3264    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Perry Shieh, MD         
Sub-Investigator: Francy Shu, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: Lee Kugelmann    352-273-6855    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Barbara Smith, PT, PhD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Not yet recruiting
Chicago, Illinois, United States, 60611
Contact: Christy Anton, CCRC    312-227-4483    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Nancy Kuntz, MD         
United States, Maryland
National Institute of Neurological Disorders and Stroke/NIH Porter Not yet recruiting
Bethesda, Maryland, United States, 20892
Contact: Cynthia M. Arevalo, BA, CCRP    301-496-7514    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Carsten G Bönnemann, MD         
Canada, Ontario
Hospital for Sick Children Not yet recruiting
Toronto, Ontario, Canada, M5G0A4
Contact: Etsuko Tsuchiya, PhD    416-813-7654 ext 309448    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: James Dowling, MD         
Germany
Ludwig-Maximilians Universität München Recruiting
Munich, Germany, 803337
Contact: Astrid Blaschek, M.D.    +49-89-4400 55110    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Wolfgang Müller-Felber, MD         
United Kingdom
Great Ormond Street Hospital Recruiting
London, United Kingdom
Contact: Mathura Thiruvel    +44 20 7905 2639 ext 2639    This e-mail address is being protected from spambots. You need JavaScript enabled to view it   
Principal Investigator: Francesco Muntoni, MD, FRCPCH, FMed Sci         
Sponsors and Collaborators
Audentes Therapeutics