Study Sites

All sites involved with the study are listed below…


Alberta Children’s Hospital

Calgary, Alberta, Canada, T3B 6A8

Jean K. Mah, MD – recruiting

Children’s Hospital London Health Sciences Centre

London, Ontario, Canada, N6A 4G5

Craig Campbell, MD – recruiting

Children’s Hospital of Eastern Ontario

401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

Hugh McMillan – recruiting

University of British Columbia Children’s Hospital

4480 Oak St, Vancouver, BC, Canada

Kathryn Selby – recruiting


Children’s Hospital, Technical University Dresden

Dresden, Germany, 01307

Maja van der Hagen – recruiting

University Hospital of Essen

Essen, Germany, 45122

Ulrike Schara – recruiting

Children’s University Hospital, Göttingen

Göttingen, Germany, 37075

Ekkehard Wilichowski – recruiting

University Medical Center Freiburg

Freiburg, Germany, 79110

Janbernd Kirschner – recruiting


IRCCS E. Medea, Bosisio-Parini (Lecco)

Bosisio-Parini, Italy, 23842

Maria G D'Angelo – recruitment closed

University of Messina AOU Policlinico Gaetano Martino

Messina, Italy, 98125

Giuseppe Vita – recruiting

C. Besta Neurological Institute Foundation

Milan, Italy, 20133

Lucia Morandi – recruiting

Second University of Naples

Naples, Italy, 80135

Louisa Politano – recruiting

University of Padova School of Medicine

Padova, Italy, 35128

Elena Pegoraro – recruiting

Neuromuscular Center University of Turin

Torino, Italy, 10126

Tiziana Mongini – recruiting

United Kingdom

The General Infirmary at Leeds

Belmont Grove, Leeds, United Kingdom, LS2 9NS

Anne-Marie Childs, MBChB, MRCP – recruiting

Heart of England NHS Foundation Trust Birmingham Heartland’s Hospital

Birmingham, United Kingdom, B9 5SS

Helen P. Roper, MBChB, MD – recruiting

Alder Hey Children’s Hospital NHS Trust

Liverpool, United Kingdom, L12 2AP

Stefan Spinty, MRCPCH – recruiting

Great Ormond Street Hospital for Children NHS Trust

London, United Kingdom, WC1N 3JH

Adnan Manzur, MBBS, MRCP – recruiting

Royal Manchester Children’s Hospital

Manchester, United Kingdom, M13 9WL

Imelda Hughes, MBBCh, MRCP – recruiting

Institute of Genetic Medicine, International Centre for Life

Newcastle Upon Tyne, United Kingdom, NE1 3BZ

Volker Straub, MD, PhD – recruiting

Greater Glasgow and Clyde NHS Yorkhill Hospital

Glasgow, Scotland, United Kingdom, G3 8SJ

Iain Horrocks, MbChB, MRCP – recruiting

Addenbrookes Hospital

Addenbrookes Hospital

Guatam Ambegaonkar, MD – recruiting

United States

University of California Davis Medical Center

Sacramento, California, United States, 95817

Craig McDonald, MD – recruiting


Los Angeles, California, United States, 90095

Perry Shieh, MD, PhD – recruiting

Children’s Memorial Hospital Chicago

Chicago, Illinois, United States, 60614

Nancy Kuntz, MD – recruiting

University of New Mexico Health Science Center

Albuquerque, New Mexico, United States, 87131

Leslie A. Morrison, MD – recruiting

University of Kansas Medical Center – collaborating with Children’s Mercy Hospital

Kansas City, Kansas, United States, 66160

Richard Barohn, MD – recruiting

University of Rochester Medical Center

Rochester, New York, United States, 14642

Emma Ciafaloni, MD – recruiting

Nationwide Children’s Hospital

Columbus, Ohio, United States, 43205

Kevin Flanigan, MD – recruiting

Vanderbilt Children’s Hospital

Nashville, Tennessee, United States, 37232

William B Burnette, MD – recruiting

Penn State Hershey Medical Center

Hershey, Pennsylvania, United States, 17033

Matthew Wicklund, MD – recruiting

University of Utah Health Sciences Center

University of Utah
75 South 2000 East
Salt Lake City, UT 84112-8930

Russell Butterfield, MD, PhD – recruiting

Boston Children’s Hospital

300 Longwood Ave Boston, MA, United States,02115

Basil Darras – recruiting

Nemours Children’s Hospital

13535 Nemours Parkway, Orlando, FL, United States 32827

Richard Finkel – recruiting

University of North Carolina, Chapel Hill

Chapel Hill, NC 27523, United States

James Howard – recruiting

Children’s National Medical Center

Washington, DC 20010

Mathula Thangarajh – recruiting