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. This is a prospective, multi center, multinational, non-interventional observational
study. All patients will be managed according to the clinical site's normal clinical
practice, i.e., the diagnostic and clinical treatment/practice process that a clinician
chooses according to their clinical judgement for an SMA patient. Clinical care will not
be driven by the protocol. No additional visits or investigations will be performed
beyond normal clinical practice. Patients will be followed for 15 years from enrolment or
until death, whichever is sooner.
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,Athens,124 62,Greece
Argyrios Dinopoulos, MD
General Hospital of Thessaloniki Ippokrateio
Recruiting
Thessaloníki,546 42,Greece
Dimitrios Zafeiriou, MD
Children's University Hospital-UCD School of Medicine Scoil an Leighis
Recruiting
Dublin,1 d01 xd99,Ireland
Soroka Medical Centre
Recruiting
Be'er Sheva,85025,Israel
Iris Noyman, MD
Wolfson Medical Center
Recruiting
Holon,5822012,Israel
Mira Ginsberg, MD
Schneider- Children's Medical Center
Recruiting
Petah tikva,4920235,Israel
Sharon Aharoni, MD
Tel-Aviv Sourasky Medical Center
Recruiting
H̱olon,582201,Israel
Aviva Fattal, MD
Obihiro Kosei Hospital
Recruiting
Hokkaido,Obihiro-shi,080-0024,Japan
Kimiaki Uetake
Kumamoto University Hospital
Recruiting
Kumamoto-shi,Kumamoto,860-8556,Japan
Shiro Ozasa
Kagawa University Hospital
Recruiting
Kita-gun,Kagawa,761-0793,Japan
Yukihiko Konishi
Chiba children's Hospital
Recruiting
Chiba-shi,Chiba,266-0007,Japan
Taku Omata, MD
Kurume University Hospital
Recruiting
Kurume-shi,Fukuoka,830-0011,Japan
Kotaro Yuge, MD
Kotaro Yuge
Center Hospital of the National Center for Global Health and Medicine
Recruiting
Shinjuku-ku,Tokyo,162-8655,Japan
Reiko Arakawa, MD
Kanagawa Children's Medical Center
Recruiting
Yokohama-shi,Kanagawa,232-8555,Japan
Tomohide Goto, MD
Hamamatsu University School of Medicine, University Hospital
Recruiting
Hamamatsu-shi,Shizuoka,431-3192,Japan
Tokiko Fukuda
Miyagi Children's Hospital
Recruiting
Sendai-shi,Miyagi,989-3126,Japan
Yukimune Okubo
Yukimune Okubo
Gifu Prefectural General Medical Center
Recruiting
Gifu-shi,Gifu,500-8717,Japan
Atsushi Imamura, MD
Jichi Medical University Hospital
Recruiting
Shimotsuke-shi,Tochigi,329-0498,Japan
Takanori Yamagata
Shiga Medical Center for Children
Recruiting
Moriyama-shi,Shiga,524-0022,Japan
Kenji Inoue
Kenji Inoue
Sapporo Medical University Hospital
Recruiting
Sapporo-shi,Hokkaido,060-8543,Japan
Shinobu Fukumura
Pusan National University Yangsan Hospital
Recruiting
Yangsan,50612,Korea, Republic of
Yunjin Lee, MD
Seoul National University Bundang Hospital
Recruiting
Seongnam-si,13620,Korea, Republic of
Anna Cho, MD
Severance Hospital
Recruiting
Seoul,03722,Korea, Republic of
Hoonchul Kang, MD
Kyungpook National University Hospital
Recruiting
Daegu,41944,Korea, Republic of
Yunjeong Lee, MD
Yunjeong Lee, MD
Centro Hospitalar Universitario Lisboa Norte, EPE
Recruiting
Lisboa,1649-035,Portugal
Teresa Moreno, MD
Almazov National Medical Research Centre
Recruiting
Saint Petersburg,197341,Russian Federation
Natalia Petrova, md
Kaohsiung Medical University Chung-Ho Memorial Hospital
Recruiting
Kaohsiung city,80756,Taiwan
Yuh-Jyh Jong, MD
Indiana University Health University Hospital (IUHUH)
Recruiting
Indianapolis,Indiana,46202,United States
Marcia Felker, MD
University of Rochester Medical Center
Recruiting
Rochester,New York,14642,United States
Bohoon Lee, MD
Children's Hospital of Orange County
Recruiting
Madera,California,93638,United States
Amanda Fernandez, MD
Atlantic Health System
Recruiting
Morristown,New Jersey,07960,United States
Darius Adams, MD
Connecticut Children's Medical Center
Recruiting
Farmington,Connecticut,06034,United States
Gyula Acsadi, MD, PhD
University of California Davis Health System
Recruiting
Sacramento,California,95817,United States
Nanette Joyce, DO
Golisano Children's Hospital of Southwest Florida
Recruiting
Fort Myers,Florida,33908,United States
Britt Stroud, MD
University of Missouri Health System
Recruiting
Columbia,Missouri,65212,United States
Jane Emerson, MD
Nationwide Children's Hospital
Recruiting
Columbus,Ohio,43205,United States
Megan Waldrop, MD
Children's Hospital Colorado
Recruiting
Aurora,Colorado,80045,United States
Julie Parsons, MD
The State University of New York
Recruiting
Stony Brook,New York,11794,United States
Simona Treidler, MD
Akron Children's Hospital
Recruiting
Akron,Ohio,44308-1062,United States
Ian Rossman, MD, PhD
Valley Children's Healthcare
Recruiting
Madera,California,93636,United States
Raymund David, MD
Penn State Hershey
Recruiting
Hershey,Pennsylvania,17033,United States
University of Kansas Medical Center
Recruiting
Kansas City,Kansas,66160,United States
Jeffrey Statland, MD
Methodist Le Bonheur Healthcare
Recruiting
Memphis,Tennessee,38103,United States
Elena Caron, MD
University of Utah
Recruiting
Salt Lake City,Utah,84113,United States
Russell Butterfield, MD, PhD
Oklahoma University Medical Center
Recruiting
Oklahoma City,Oklahoma,73104,United States
Danielle DeMarzo, MD
Phoenix Children's Hospital
Recruiting
Phoenix,Arizona,85016,United States
Saunder Bernes, MD
CHRISTUS Health
Recruiting
San Antonio,Texas,78207,United States
Melissa Svoboda, MD
Child Neurology Consultants of Austin
Recruiting
Austin,Texas,78731,United States
Jinfon Ong, MD
Children's Hospital of The King's Daughters
Recruiting
Norfolk,Virginia,23507,United States
Crystal Proud, MD
Jackson South Medical Center
Recruiting
Palmetto Bay,Florida,33157,United States
Paula Schleifer, MD
University of California Los Angeles Health
Recruiting
Los Angeles,California,90095,United States
Perry Shieh, MD, PhD
Yale-New Haven Health System
Recruiting
New Haven,Connecticut,06510,United States
Cristian Ionita, MD
Rady Children's Hospital San Diego
Recruiting
San Diego,California,92123,United States
Chamindra Konersman, MD
Cook Children's
Recruiting
Fort Worth,Texas,76104,United States
Warren Marks, MD
Children's Hospital of Los Angeles
Recruiting
Los Angeles,California,90027,United States
Leigh Maria Ramos-Platt, MD
University of Pittsburgh Medical Center
Recruiting
Pittsburgh,Pennsylvania,15224,United States
Hoda Abdel-Hamid, MD
Virginia Commonwealth University Health System
Recruiting
Richmond,Virginia,23298,United States
Nicholas Johnson, MD
University of Louisville
Recruiting
Louisville,Kentucky,40202,United States
Arpita Lakhotia, MD
Seattle Children's
Recruiting
Seattle,Washington,98105,United States
Seth Perlman, MD
University of Virginia Health System
Recruiting
Charlottesville,Virginia,22908,United States
Rebecca Scharf, MD
Nicklaus Children's Hospital
Recruiting
Miami,Florida,33155,United States
Paula Schleifer, MD
Prisma Health
Recruiting
Greenville,South Carolina,29615,United States
Addie Hunnicutt, MD
Cincinnati Children's Hospital Medical Center
Recruiting
Cincinnati,Ohio,45229-3026,United States
Cuixia Tian, MD
University Hospitals
Recruiting
Cleveland,Ohio,44106,United States
Nancy Bass, MD
Arkansas Children's Hospital
Recruiting
Little Rock,Arkansas,72202,United States
Kapil Arya, MD
Children's Health
Recruiting
Dallas,Texas,75207,United States
Susan Iannaccone, MD
Oregon Health and Science University
Recruiting
Portland,Oregon,97239-3098,United States
Erika Finanger, MD
Children's Hospital of Wisconsin
Recruiting
Milwaukee,Wisconsin,53226,United States
Matthew Harmelink, MD
Texas Children's Hospital
Recruiting
Houston,Texas,77030,United States
Timothy Lotze, MD
Adventist Health System - Florida
Recruiting
Orlando,Florida,32803,United States
Kihyeong Lee, MD
Duke Health
Recruiting
Durham,North Carolina,27705,United States
Edward Smith, MD
University of Iowa
Recruiting
Iowa City,Iowa,52242-1009,United States
Katherine Mathews, MD
Washington University School of Medicine in St. Louis
Recruiting
Saint Louis,Missouri,63110,United States
Craig Zaidman, MD
University of Minnesota
Recruiting
Minneapolis,Minnesota,55455,United States
Peter Karachunski, MD
MultiCare Health System
Recruiting
Tacoma,Washington,98405,United States
Anisha Schwarz, MD
University of Wisconsin
Recruiting
Madison,Wisconsin,53792,United States
Jennifer Kwon, MD
Loma Linda University Health
Recruiting
Loma Linda,California,92350,United States
David Michelson, MD
Worldwide Contacts
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