United States


Kansas
University of Kansas Medical Center
3901 Rainbow Boulevard
66160 KS
United States
Kiley Sims
14083141007
Principal Investigator: Jeffery Statland, MD
Status: Active, No longer enrolling in USA

California
Children’s Hospital Los Angeles
4650 W Sunset Blvd
90027 CA
United States
Claudia Dozal
323-361-5825
Principal Investigator: Leigh Maria Ramos-Platt, MD
Status: Active, No longer enrolling in USA

California
David Geffen School of Medicine, UCLA
10833 Le Conte Ave
90095 CA
United States
Michael Bonitati
310-825-3264
Principal Investigator: Perry Shieh, MD, PhD
Status: Active, No longer enrolling in USA

California
Stanford University School of Medicine/Medical Center
291 Campus Drive
94305 CA
United States
Carolyn Mclaughlin
650-206-3178
Principal Investigator: John Day, MD
Status: Active, No longer enrolling in USA

California
Rady Children’s Hospital San Diego/ UCSD
3020 Children's Way
92123 CA
United States
Rosabel Agbayani
858-966-8208
Principal Investigator: Carla Grosmann, MD
Status: Active, No longer enrolling in USA

Connecticut
Connecticut Children’s Medical Center
282 Washington Street
06106 CT
United States
Hendriana Nielsen
(860) 837-5881
Principal Investigator: Gyula Acsadi, MD, PhD
Status: Withdrawn

Florida
NW Florida Clinical Research Group, LLC
400 Gulf Breeze Pkwy
32561 FL
United States
Shae Lancelin
Principal Investigator: Ben Renfroe, MD
Status: Active, No longer enrolling in USA

Florida
University of Florida
2004 Mowry Road
32610 FL
United States
Stephanie Salabarria
352-273-6582
Principal Investigator: Barry Byrne, MD, PhD
Status: Active, No longer enrolling in USA

Georgia
Center for Integrative Rare Disease Research (CIRDR)
1891 Howell Mill Road, NW
30318 GA
United States
Krystal Reese
404-829-2380
Principal Investigator: Han Phan, MD
Status: Active, No longer enrolling in USA

Iowa
University of Iowa Children’s Hospital
200 Hawkins Dr
52242 IA
United States
Carrie Stephan
319-356-2673
Principal Investigator: Katherine Mathews, MD
Status: Active, No longer enrolling in USA

Illinois
Ann and Robert H. Lurie Children’s Hospital of Chicago
225 E Chicago Ave
60611 IL
United States
Theresa Oswald
312-227-4483
Principal Investigator: Nancy Kuntz, MD
Status: Active, No longer enrolling in USA

Arizona
Neuromuscular Research Center
4545 E Shea Blvd
85028 AZ
United States
Kristy Osgood
14083141007
Principal Investigator: Kumaraswamy Sivakumar, MD
Status: Active, No longer enrolling in USA

Massachusetts
Boston Children’s Hospital
300 Longwood Avenue
02115 MA
United States
Timothy Harrington
857-218-4677
Principal Investigator: Basil Darras, MD
Status: Active, No longer enrolling in USA

Missouri
St. Louis Children’s Hospital
400 S Kingshighway Blvd
63110 MO
United States
Traci Christenson
314-362-6991
Principal Investigator: Ann M Connolly, MD
Status: Active, No longer enrolling in USA

Nevada
Las Vegas Clinic
351 N Buffalo Dr
89145 NV
United States
Kaitlyn McKenna
702-505-4230
Principal Investigator: Jonathan McKinnon, MD
Status: Active, No longer enrolling in USA

New York
University of Rochester Clinical Research Center
500 Joseph C Wilson Blvd
14627 NY
United States
Patricia Smith
585-275-4339
Principal Investigator: Emma Ciafaloni, MD
Status: Active, No longer enrolling in USA

Ohio
Cincinnati Children’s Hospital Medical Center
3333 Burnet Ave
45229 OH
United States
Principal Investigator: John Jefferies, MD
Status: Active, No longer enrolling in USA

Ohio
Nationwide Children’s Hospital
700 Childrens Dr
43205 OH
United States
Lisa Moffitt
614-722-8528
Principal Investigator: Jerry R Mendell, MD
Status: Active, No longer enrolling in USA

Oregon
Shriners Hospitals For Children
3101 Southwest Sam Jackson
Park Road
97239 OR
United States
Cathleen Buckon
503-221-3471
Principal Investigator: Erika Finanger, MD, MS
Status: Active, No longer enrolling in USA

Pennsylvania
Children’s Hospital of Pittsburgh of UPMC
4401 Penn Ave
15224 PA
United States
Jennifer M Monahan
412-692-5176
Principal Investigator: Hoda Z Abdel-Hamid, MD
Status: Active, No longer enrolling in USA

Pennsylvania
Children’s Hospital of Philadelphia
3401 Civic Center Blvd
19104 PA
United States
Michele Bergman
267-425-2111
Principal Investigator: Gihan Tennekoon, MD
Status: Active, No longer enrolling in USA

Texas
Children’s Medical Center Dallas
1935 Medical District Drive
75235 TX
United States
Holly Lawrence
214-456-2463
Principal Investigator: Susan Iannaccone, MD
Status: Active, No longer enrolling in USA

Utah
University of Utah
175 North Medical Center Drive
East
84132 UT
United States
Bria Jensen
801-585-9399
Principal Investigator: Russell Butterfield, MD, PhD
Status: Active, No longer enrolling in USA

Virginia
Children’s Hospital of the King’s Daughters
601 Children's Lane
23507 VA
United States
Terrie Conklin
757-668-9356
Principal Investigator: Crystal Proud, MD
Status: Active, No longer enrolling in USA

Wisconsin
Children’s Hospital of Wisconsin
9000 West Wisconsin Avenue
53226 WI
United States
Marsha Malloy
(414) 266-6792
Principal Investigator: Matthew Harmelink, MD
Status: Active, No longer enrolling in USA

Italy


Roma
Some Place in Italy
Via Aldo Moro, 8 Ferrara, 44124
00100 RM
Italy
Another Person
+393465374262
Principal Investigator: Italian Person
Status: This is a test site

Italy


Ferrara
Azienda Ospedaliero-Universitaria di Ferrara – Arcispedale Sant’ Anna
Via Aldo Moro, 8
44124 FE
Italy
Fernanda Fortunato 
+393465374262
Principal Investigator: Claudio Bruno, MD
Status: Recruiting

Italy


Messina
Az Ospedaliera Universitaria Policlinico G Martino
Via Consolare Valeria
98125 ME
Italy
Daniela Quattrocchi 
+ 393493500123
Principal Investigator: Giuseppe Vita, MD
Status: Recruiting

Italy


Roma
Policlinico Universitario A Gemelli
Largo Agostino Gemelli, 8
00168 RM
Italy
Mariarosaria Vizzino 
+390630158581
Principal Investigator: Eugenio Mercuri, MD
Status: Recruiting

United Kingdom


Leeds Teaching Hospitals NHS Trust
Great George St
Leeds LS1 3EX
United Kingdom
Heather Rostron
+441133922344
Principal Investigator: Ann-Marie Childs, MD
Status: Recruiting

United Kingdom


Alder Hey Children’s Hospital
Alder Hey Children's NHS Foundation Trust,
Alder Hey Children's Hospital Eaton Road
Liverpool L12 2AP
United Kingdom
Timothy Henderson
+441512525164
Principal Investigator: Stefan Spinty, MD
Status: Recruiting

United Kingdom


Great Ormond Street Hospital (GOSH)
30 Guilford Street
London WC1N 1EH
United Kingdom
Hinal Patel
020 7905 2639 ext 2639
Principal Investigator: Francesco Muntoni, MD
Status: Recruiting

United Kingdom


The Royal Victoria Infirmary
Queen Victoria Road New
Queen Victoria Road New Victoria Wing
Newcastle Upon Tyne NE1 4LP
United Kingdom
Valerie Corrall
+4401912084569
Principal Investigator: Volker Straub, MD
Status: Recruiting

Canada


Alberta
Alberta Childrens Hospital
2888 Shaganappi Trail
Northwest
T3B 6A8 AB
Canada
Trevor Rutschmann
403-955-3192
Principal Investigator: Jean Mah
Status: Recruiting

Canada


British Columbia
Children’s and Women’s Health Centre of British Columbia
4480 Oak Street
V6H 3V4 BC
Canada
Conrado De Guzman
(604) 875-2345 xext6834
Principal Investigator: Kathryn Selby
Status: Recruiting

Canada


Ontario
London Health Sciences Centre
800 Commissioners Road East
N6A 5W9 ON
Canada
Gina Bhullar
(519) 685-8500 ext 55058
Principal Investigator: Craig Campbell
Status: Recruiting

Spain


Barcelona
Hospital de La Santa Creu i Sant Pau
Calle Mas Casanovas, 90 08041
08041 Barcelona
Spain
Nuria Vidal
+34935537115
Principal Investigator: Jorge Diaz Manera, MD
Status: Recruiting

Spain


Barcelona
Hospital Sant Joan de Deu
Passeig Sant Joan de Déu, 2,
Esplugues de Llobregat
08950 Barcelona
Spain
Marina Garcia 
+34936009733
Principal Investigator: Andres Nascimento, MD
Status: Recruiting

Spain


Valencia
Hospital Universitari i Politecnic La Fe de Valencia
Avenida Fernando Abril
Martorell
46206 Valencia
Spain
Pilar Marti
+34961244000
Principal Investigator: Juan Jesus Vilchez Padilla, MD
Status: Recruiting

France


Hôpital Armand Trousseau
26 Avenue du Dr Netter
Paris 75012
France
Dominique Duchêne
33171738313
Principal Investigator: Laurent Servais
Status: Recruiting

France


Reference Centre for Neuromuscular Diseases
1 Place Alexis-Ricordeau
Nantes 44093
France
Christelle Peseux
+33240087880
Principal Investigator: Yann Péréon
Status: Recruiting

France


Hôpital Des Enfants
330 Avenue De Grande Bretagne
Toulouse, Haute-Garonne 31059
France
Francoise Auriol
+33534558589
Principal Investigator: Claude Cances
Status: Recruiting

Germany


niversitätsklinikum Essen
Hufelandstraße 55
Essen 45147
Germany
Corinna Seifert
+4920172385170
Principal Investigator: Ulrike Schara, MD
Status: Recruiting

Germany


University Hospital Freiburg
Mathildenstraße 1
Freiburg 79106
Germany
Sabine Wider
+4976127043440
Principal Investigator: Janbernd Kirschner, MD
Status: Recruiting

Germany


LMU Klinikum der Universität München
Lindwurmstraße 4
Munich 80337
Germany
Astrid Blaschek
+4989440055110
Principal Investigator: Wolfgang Müller-Felber, MD
Status: Recruiting

Czechia


Fakultni nemocnice v Motole
V Uvalu 84
Praha 150 08
Czechia
Marcela Hlozankova
+420224433367
Principal Investigator: Jana Haberlová
Status: Recruiting

Czechia


University Hospital Brno
Cernopolni 9
Brno 61300
Czechia
Lenka Jurikova
+420532234919
Principal Investigator: Lenka Jurikova
Status: Recruiting

Belgium


Universitair Ziekenhuis Gent
De Pintelaan 185, Ghent,
Flemish Region 9000
Ghent 9000
Belgium
Elke De Vos
+3293321954
Principal Investigator: Nicolas Deconinck, MD
Status: Recruiting

Belgium


Universitair Ziekenhuis Leuven
Herestraat 49, Leuven
Flemish Region
Leuven 3000
Belgium
Anne Vanden Eynden
+3216343991
Principal Investigator: Nathalie Goemans, MD
Status: Recruiting

Sweden


Drottning Silvias Barn Och Ungdomssjukhus
Rondvägen 10
SE
Göteborg 41685
Sweden
Anna-Lena Tulinius 
+46313436069
Principal Investigator: Mar Tulinius, MD
Status: Recruiting

Australia


Victoria
Royal Children’s Hospital Melbourne
Flemington Road
3052 VIC
Australia
Jemima Mitchell
+61399366157
Principal Investigator: Monique Ryan
Status: Recruiting

Poland


Samodzielny Publiczny Centralny Szpital Kliniczny
Stefana Banacha 1a
Warszawa, Mazowieckie 02-097
Poland
Aleksandra Jastrzebska
+48503633513
Principal Investigator: Anna Kostera-Pruszczyk
Status: Recruiting

Israel


Schneider Children’s Medical Center of Israel – Petah Tikvah
14 Kaplan Street
Petah Tikva 49100
Israel
Ori Raz
(972) 525-1860 x44
Principal Investigator: Yoram Nevo
Status: Recruiting

Hungary


Semmelweis Egyetem Genomikai Medicina és Ritka Betegsegek Intezete
Tomo utca 25-29
Budapest 1083
Hungary
Noemi Toreki
+3614591492
Principal Investigator: Maria Judith Molnar
Status: Not Yet Recruiting