Study Description
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.
Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.
Interventions
Prospective observational registry
Zolgensma
Eligibility Criteria
Inclusion Criteria:
Patients with SMA, genetically confirmed on or after 24 May 2018.
Appropriate consent/assent has been obtained for participation in the registry
Exclusion Criteria:
- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.
Note: Patients that are participating in a Compassionate Use Program (CUP) for AVXS-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of genetic confirmation of SMA.
Study Location
University General Hospital Attikon
Recruiting
Chaïdári,Argyrios Dinopoulos, MD ((+30) 210 583 1000) email: argi[email protected] -- Argyrios Dinopoulos, MD,124 62 - Athens,Greece
General Hospital of Thessaloniki Ippokrateio
Recruiting
Thessaloníki,Dimitrios Zafeiriou, MD ((+30) 2310 99 29 63) email: [email protected] -- Dimitrios Zafeiriou, MD,546 42,Greece
Children's University Hospital-UCD School of Medicine Scoil an Leighis
Recruiting
Dublin,Declan O Rourke, MD (+353 1 8784722) email: [email protected],1 D01 XD99,Ireland
Tel-Aviv Sourasky Medical Center
Recruiting
H̱olon,Aviva Fattal, MD (972-3-6974115) email: [email protected] -- Aviva Fattal, MD,582201,Israel
Schneider- Children's Medical Center
Recruiting
Petah tikva,Sharon Aharoni, MD (972-3-9253398) email: [email protected] -- Sharon Aharoni, MD,4920235,Israel
Wolfson Medical Center
Recruiting
Holon,Mira Ginsberg, MD (972-3-5028936) email: [email protected] -- Mira Ginsberg, MD,5822012,Israel
Soroka Medical Centre
Recruiting
Be'er Sheva,Iris Noyman, MD (972-86245911) email: [email protected] -- Iris Noyman, MD,85025,Israel
Miyagi Children's Hospital
Recruiting
Sendai-shi,Yukimune Okubo (+81-22-391-5111) -- Yukimune Okubo,989-3126 - Miyagi,Japan
Center Hospital of the National Center for Global Health and Medicine
Recruiting
Shinjuku-ku,Reiko Arakawa (+81-3-3202-7181) email: rara[email protected] -- Reiko Arakawa, MD,162-8655 - Tokyo,Japan
Hamamatsu University School of Medicine, University Hospital
Recruiting
Hamamatsu-shi,Tokiko Fukuda (+81-53-435-2111) email: to[email protected] -- Tokiko Fukuda,431-3192 - Shizuoka,Japan
Kumamoto University Hospital
Recruiting
Kumamoto-shi,Shiro Ozasa (+81-96-344-2111) email: [email protected] -- Shiro Ozasa,860-8556 - Kumamoto,Japan
Chiba children's Hospital
Recruiting
Chiba-shi,Taku Omata (+81-43-292-2111) email: [email protected] -- Taku Omata, MD,266-0007 - Chiba,Japan
Kurume University Hospital
Recruiting
Kurume-shi,Kotaro Yuge (+81-942-38-1792) -- Kotaro Yuge, MD,830-0011 - Fukuoka,Japan
Fukui Prefectural Hospital
Recruiting
Fukui,Genrei Ohta (+81-776-54-5151) -- Genrei Ohta,910-8526,Japan
Jichi Medical University Hospital
Recruiting
Shimotsuke-shi,Takanori Yamagata (+81-285-44-2111) email: ta[email protected] -- Takanori Yamagata,329-0498 - Tochigi,Japan
Obihiro Kosei Hospital
Recruiting
Hokkaido,Kimiaki Uetake (+81-155-65-0101) email: [email protected] -- Kimiaki Uetake,080-0024 - Obihiro-shi,Japan
Shiga Medical Center for Children
Recruiting
Moriyama-shi,Kenji Inoue (+81-77-582-6200) -- Kenji Inoue,524-0022 - Shiga,Japan
Kagawa University Hospital
Recruiting
Kita-gun,Yukihiko Konishi (+81-87-898-5111) email: konishi.yuk[email protected] -- Yukihiko Konishi,761-0793 - Kagawa,Japan
Gifu Prefectural General Medical Center
Recruiting
Gifu-shi,Atsushi Imamura (+81-58-246-1111) email: [email protected] -- Atsushi Imamura, MD,500-8717 - Gifu,Japan
Sapporo Medical University Hospital
Recruiting
Sapporo-shi,Shinobu Fukumura (+81-11-611-2111) email: fuk[email protected] -- Shinobu Fukumura,060-8543 - Hokkaido,Japan
Kanagawa Children's Medical Center
Recruiting
Yokohama-shi,Tomohide Goto (+81-45-711-2351) email: [email protected] -- Tomohide Goto, MD,232-8555 - Kanagawa,Japan
Seoul National University Bundang Hospital
Recruiting
Seongnam-si,Anna Cho, MD (+82-31-787-7301) email: [email protected] -- Anna Cho, MD,13620,Korea, Republic of
Severance Hospital
Recruiting
Seoul,Hoonchul Kang, MD (02-2228-2050) email: [email protected] -- Hoonchul Kang, MD,03722,Korea, Republic of
Kyungpook National University Hospital
Recruiting
Daegu,Yunjeong Lee, MD email: oil[email protected] -- Yunjeong Lee, MD,41944,Korea, Republic of
Pusan National University Yangsan Hospital
Recruiting
Yangsan,Yunjin Lee, MD (+82-55-360-2180) email: [email protected] -- Yunjin Lee, MD,50612,Korea, Republic of
Centro Hospitalar Universitario Lisboa Norte, EPE
Recruiting
Lisboa,Teresa Moreno, MD ((+351) 915 668 130) email: [email protected] -- Joana Coelho, MD ((+351) 965 560 339) email: joan[email protected] -- Teresa Moreno, MD,1649-035,Portugal
Almazov National Medical Research Centre
Recruiting
Saint Petersburg,Natalia Petrova, MD (+79110090808) email: nat[email protected] -- Natalia Petrova, md,197341,Russian Federation
Kaohsiung Medical University Chung-Ho Memorial Hospital
Recruiting
Kaohsiung city,Yuh-Jyh Jong, MD (+886-7-312-1101 ext: 6507) email: [email protected] -- Yuh-Jyh Jong, MD,80756,Taiwan
Golisano Children's Hospital of Southwest Florida
Recruiting
Fort Myers,Britt Stroud, MD (239-343-5437) email: [email protected] -- Molly Arnstrom ((239) 343-5437) email: Molly.arnstrom@leehealth.org -- Britt Stroud, MD,33908 - Florida,United States
University of Pittsburgh Medical Center
Recruiting
Pittsburgh,Casey Matthews (610-360-5342) email: [email protected] -- Hoda Abdel-Hamid, MD,15224 - Pennsylvania,United States
Connecticut Children's Medical Center
Recruiting
Farmington,Hendriana Nielsen (860-837-5881) email: [email protected] -- James Santanelli ((860) 837-5873) email: [email protected] -- Gyula Acsadi, MD, PhD,06034 - Connecticut,United States
University of California Los Angeles Health
Recruiting
Los Angeles,Huynh Jennifer (310-825-3564) email: [email protected] -- Perry Shieh, MD, PhD,90095 - California,United States
Penn State Hershey
Recruiting
Hershey,Ellen Stoute (717-531-1260) email: [email protected] -- Ashutosh Kumar, MD ((717) 531-8790) email: ak[email protected],17033 - Pennsylvania,United States
Washington University School of Medicine in St. Louis
Recruiting
Saint Louis,Natalie Goedeker (314-362-4919) email: ngoedek[email protected] -- Craig Zaidman, MD,63110 - Missouri,United States
Children's Hospital of Orange County
Recruiting
Madera,Amanda Fernandez, MD (559-353-6215) email: [email protected] -- Linda Do ((714) 696-2665) email: [email protected] -- Amanda Fernandez, MD,93638 - California,United States
MultiCare Health System
Recruiting
Tacoma,Amber Brown (253-272-2350) email: [email protected] -- Anisha Schwarz, MD,98405 - Washington,United States
University of Rochester Medical Center
Recruiting
Rochester,Bohoon Lee (585-275-2776) email: [email protected] -- James Hilbert ((585) 273-5590) email: [email protected] -- Bohoon Lee, MD,14642 - New York,United States
Seattle Children's
Recruiting
Seattle,Marissa Robertson (206-987-5457) email: [email protected] -- Leslie Vogel ((206) 987-3128) email: [email protected] -- Seth Perlman, MD,98105 - Washington,United States
Cook Children's
Recruiting
Fort Worth,Amanda Westbrook (682-885-6918) email: [email protected] -- Warren Marks, MD,76104 - Texas,United States
University of Iowa
Recruiting
Iowa City,Chandra Miller (319-384-9618) email: [email protected] -- Carrie Stephan ((319) 356-2673) email: [email protected] -- Katherine Mathews, MD,52242-1009 - Iowa,United States
Adventist Health System - Florida
Recruiting
Orlando,Brooke Hartwell (407-303-2086) email: [email protected] -- Kihyeong Lee, MD,32803 - Florida,United States
Children's Hospital of The King's Daughters
Recruiting
Norfolk,Ashley Vasko (757-668-9991) email: Ashley.va[email protected] -- Crystal Proud, MD,23507 - Virginia,United States
Phoenix Children's Hospital
Recruiting
Phoenix,Nakia Croft (602-933-0641) email: [email protected] -- Saunder Bernes, MD,85016 - Arizona,United States
Texas Children's Hospital
Recruiting
Houston,Steffy Jose (832-824-6646) email: Stef[email protected] -- Timothy Lotze, MD,77030 - Texas,United States
Indiana University Health University Hospital (IUHUH)
Recruiting
Indianapolis,Marcia Felker, MD (317-948-7450) email: [email protected] -- Jill Mazurczyk ((317) 418-1060) email: jm[email protected] -- Marcia Felker, MD,46202 - Indiana,United States
University of Utah
Recruiting
Salt Lake City,Sarah Moldt (801-585-9399) email: [email protected] -- Russell Butterfield, MD, PhD,84113 - Utah,United States
Nationwide Children's Hospital
Recruiting
Columbus,Jessica Noel-Morgan (614-355-3428) email: [email protected] -- Megan Waldrop ((614) 722-2231) email: [email protected] -- Megan Waldrop, MD,43205 - Ohio,United States
Duke Health
Recruiting
Durham,Karen Cornett (919-684-1143) email: [email protected] -- Edward Smith, MD,27705 - North Carolina,United States
University of Kansas Medical Center
Recruiting
Kansas City,Rebecca Clay (913-588-1227) email: rcl[email protected] -- Jeffrey Statland, MD,66160 - Kansas,United States
Akron Children's Hospital
Recruiting
Akron,Ian Rossman, MD, PhD (330-543-8050) email: [email protected] -- Ian Rossman, MD, PhD,44308-1062 - Ohio,United States
Yale-New Haven Health System
Recruiting
New Haven,Catherine Tsao (203-785-4390) email: [email protected] -- Cristian Ionita, MD,06510 - Connecticut,United States
Children's Hospital of Wisconsin
Recruiting
Milwaukee,Rupa Nallamothu (414-955-0685) email: [email protected] -- Rebecca Rehborg ((414) 805-8369) email: [email protected] -- Matthew Harmelink, MD,53226 - Wisconsin,United States
Prisma Health
Recruiting
Greenville,Carrie Frost (864-454-5174) email: [email protected] -- Addie Hunnicutt ((864) 454-5110) email: [email protected] -- Addie Hunnicutt, MD,29615 - South Carolina,United States
Jackson South Medical Center
Recruiting
Palmetto Bay,Paula Schleifer, MD (305-279-2226) email: [email protected] -- Paula Schleifer, MD,33157 - Florida,United States
The State University of New York
Recruiting
Stony Brook,Christine Pol (631-444-9083) email: [email protected] -- Simona Treidler, MD,11794 - New York,United States
University of Virginia Health System
Recruiting
Charlottesville,Chelsea Masterson (434-297-5737) email: [email protected] -- Rebecca Scharf, MD,22908 - Virginia,United States
Child Neurology Consultants of Austin
Recruiting
Austin,Leyra Santiago (512-494-4000 ext: 265) email: LSantiag[email protected] -- Jinfon Ong, MD,78731 - Texas,United States
Nicklaus Children's Hospital
Recruiting
Miami,Mari Vega (786-624-3516) email: [email protected] -- Paula Schleifer, MD,33155 - Florida,United States
University of Louisville
Recruiting
Louisville,Lauren Evanczyk (502-588-3650) email: [email protected] -- Arpita Lakhotia, MD,40202 - Kentucky,United States
University of Wisconsin
Recruiting
Madison,Maggie Chilsen (608-263-2704) email: [email protected] -- Jennifer Kwon, MD,53792 - Wisconsin,United States
Children's Health
Recruiting
Dallas,Tammy Ramm (214-456-4426) email: [email protected] -- Leah Taylor ((214) 456-3686) email: [email protected] -- Susan Iannaccone, MD,75207 - Texas,United States
Loma Linda University Health
Recruiting
Loma Linda,Jaclyn Lopez, MD (909-558-5830) email: JANLopez@llu.edu -- David Michelson, MD,92350 - California,United States
University of Minnesota
Recruiting
Minneapolis,Natalya Alassy, MD (612-626-4690) email: [email protected] -- Peter Karachunski, MD,55455 - Minnesota,United States
Arkansas Children's Hospital
Recruiting
Little Rock,Kapil Arya (501-364-1850) email: [email protected] -- Kapil Arya, MD,72202 - Arkansas,United States
Rady Children's Hospital San Diego
Recruiting
San Diego,Chamindra Konersman, MD (858-966-5819) email: [email protected] -- Sabrina D'Alfonso (858-246-5634) email: [email protected] -- Chamindra Konersman, MD,92123 - California,United States
CHRISTUS Health
Recruiting
San Antonio,Melissa Svoboda, MD (210-704-4715) email: melissa.sv[email protected] -- Melissa Svoboda, MD,78207 - Texas,United States
University Hospitals
Recruiting
Cleveland,Nancy Bass (216-444-3691) email: [email protected] -- Jerry Tribout ((216) 286-0228) email: Jerry.Trib[email protected] -- Nancy Bass, MD,44106 - Ohio,United States
Oklahoma University Medical Center
Recruiting
Oklahoma City,Danielle DeMarzo, MD (405-271-8685) email: [email protected] -- Erin Coffman (405-271-8001) email: [email protected] -- Danielle DeMarzo, MD,73104 - Oklahoma,United States
Valley Children's Healthcare
Recruiting
Madera,Raymund David, MD (559-353-6215) email: [email protected] -- Raymund David, MD,93636 - California,United States
Children's Hospital Colorado
Recruiting
Aurora,Allison Stone (720-777-6143) email: [email protected] -- Julie Parsons, MD,80045 - Colorado,United States
Methodist Le Bonheur Healthcare
Recruiting
Memphis,Farimah Salami (901-287-4509) email: [email protected] -- Elena Caron, MD,38103 - Tennessee,United States
University of Missouri Health System
Recruiting
Columbia,Anne Bonnett (573-884-6119) email: [email protected] -- Jane Emerson, MD,65212 - Missouri,United States
Atlantic Health System
Recruiting
Morristown,Darius Adams, MD (518-262-5120) email: [email protected] -- Darius Adams, MD,07960 - New Jersey,United States
Cincinnati Children's Hospital Medical Center
Recruiting
Cincinnati,Emily Hunsaker (513-636-5511) email: emily.hunsa[email protected] -- Cuixia Tian, MD,45229-3026 - Ohio,United States
University of California Davis Health System
Recruiting
Sacramento,Rachel (Ja Yoon) Baek (916-734-2439) email: [email protected] -- Nanette Joyce, DO,95817 - California,United States
Oregon Health and Science University
Recruiting
Portland,Bryn McCarthy (503-418-8297) email: [email protected] -- Erika Finanger, MD,97239-3098 - Oregon,United States
Virginia Commonwealth University Health System
Recruiting
Richmond,Ana Rosa Rezeq (804-828-1445) email: [email protected] -- Nicholas Johnson, MD,23298 - Virginia,United States
Children's Hospital of Los Angeles
Recruiting
Los Angeles,Martha Arellano-Garcia (323-361-5812) email: [email protected] -- Claudia Dozal ((323) 361-5825) email: [email protected] -- Leigh Maria Ramos-Platt, MD,90027 - California,United States
Worldwide Contacts
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