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:
- Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
- Subject is male
- Subject is aged ≤3 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
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT02704273
Contact: Tristen Moors, MS | 415.818.1041 | 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
Contact: Shawn Jones | 415.818.1036 | 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 |
Study Sites
United States, California | |
UCLA | Recruiting |
Los Angeles, California, United States, 90095 | |
Contact: Katrina Nguyen 310-825-3264 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
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 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
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 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
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 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
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 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
Principal Investigator: James Dowling, MD | |
Germany | |
Ludwig-Maximilians Universität München | Recruiting |
Munich, Germany, 803337 | |
Contact: Astrid Blaschek, M.D. +49-89-4400 55110 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
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 這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 | |
Principal Investigator: Francesco Muntoni, MD, FRCPCH, FMed Sci |