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
General Hospital of Thessaloniki Ippokrateio
Recruiting
Thessaloníki,546 42,Greece
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
Tel-Aviv Sourasky Medical Center
Recruiting
H̱olon,582201,Israel
Schneider- Children's Medical Center
Recruiting
Petah tikva,4920235,Israel
Wolfson Medical Center
Recruiting
Holon,5822012,Israel
Kurume University Hospital
Recruiting
Kurume-shi,Fukuoka,830-0011,Japan
Fukui Prefectural Hospital
Recruiting
Fukui,910-8526,Japan
Jichi Medical University Hospital
Recruiting
Shimotsuke-shi,Tochigi,329-0498,Japan
Obihiro Kosei Hospital
Recruiting
Hokkaido,Obihiro-shi,080-0024,Japan
Shiga Medical Center for Children
Recruiting
Moriyama-shi,Shiga,524-0022,Japan
Kagawa University Hospital
Recruiting
Kita-gun,Kagawa,761-0793,Japan
Gifu Prefectural General Medical Center
Recruiting
Gifu-shi,Gifu,500-8717,Japan
Sapporo Medical University Hospital
Recruiting
Sapporo-shi,Hokkaido,060-8543,Japan
Kanagawa Children's Medical Center
Recruiting
Yokohama-shi,Kanagawa,232-8555,Japan
Miyagi Children's Hospital
Recruiting
Sendai-shi,Miyagi,989-3126,Japan
Center Hospital of the National Center for Global Health and Medicine
Recruiting
Shinjuku-ku,Tokyo,162-8655,Japan
Hamamatsu University School of Medicine, University Hospital
Recruiting
Hamamatsu-shi,Shizuoka,431-3192,Japan
Kumamoto University Hospital
Recruiting
Kumamoto-shi,Kumamoto,860-8556,Japan
Chiba children's Hospital
Recruiting
Chiba-shi,Chiba,266-0007,Japan
Seoul National University Bundang Hospital
Recruiting
Seongnam-si,13620,Korea, Republic of
Severance Hospital
Recruiting
Seoul,03722,Korea, Republic of
Kyungpook National University Hospital
Recruiting
Daegu,41944,Korea, Republic of
Pusan National University Yangsan Hospital
Recruiting
Yangsan,50612,Korea, Republic of
Centro Hospitalar Universitario Lisboa Norte, EPE
Recruiting
Lisboa,1649-035,Portugal
Almazov National Medical Research Centre
Recruiting
Saint Petersburg,197341,Russian Federation
Kaohsiung Medical University Chung-Ho Memorial Hospital
Recruiting
Kaohsiung city,80756,Taiwan
Duke Health
Recruiting
Durham,North Carolina,27705,United States
University of Kansas Medical Center
Recruiting
Kansas City,Kansas,66160,United States
Akron Children's Hospital
Recruiting
Akron,Ohio,44308-1062,United States
Yale-New Haven Health System
Recruiting
New Haven,Connecticut,06510,United States
Children's Hospital of Wisconsin
Recruiting
Milwaukee,Wisconsin,53226,United States
Prisma Health
Recruiting
Greenville,South Carolina,29615,United States
Jackson South Medical Center
Recruiting
Palmetto Bay,Florida,33157,United States
The State University of New York
Recruiting
Stony Brook,New York,11794,United States
University of Virginia Health System
Recruiting
Charlottesville,Virginia,22908,United States
Child Neurology Consultants of Austin
Recruiting
Austin,Texas,78731,United States
Nicklaus Children's Hospital
Recruiting
Miami,Florida,33155,United States
University of Louisville
Recruiting
Louisville,Kentucky,40202,United States
University of Wisconsin
Recruiting
Madison,Wisconsin,53792,United States
Children's Health
Recruiting
Dallas,Texas,75207,United States
Loma Linda University Health
Recruiting
Loma Linda,California,92350,United States
University of Minnesota
Recruiting
Minneapolis,Minnesota,55455,United States
Arkansas Children's Hospital
Recruiting
Little Rock,Arkansas,72202,United States
Rady Children's Hospital San Diego
Recruiting
San Diego,California,92123,United States
CHRISTUS Health
Recruiting
San Antonio,Texas,78207,United States
University Hospitals
Recruiting
Cleveland,Ohio,44106,United States
Oklahoma University Medical Center
Recruiting
Oklahoma City,Oklahoma,73104,United States
Valley Children's Healthcare
Recruiting
Madera,California,93636,United States
Children's Hospital Colorado
Recruiting
Aurora,Colorado,80045,United States
Methodist Le Bonheur Healthcare
Recruiting
Memphis,Tennessee,38103,United States
University of Missouri Health System
Recruiting
Columbia,Missouri,65212,United States
Atlantic Health System
Recruiting
Morristown,New Jersey,07960,United States
Cincinnati Children's Hospital Medical Center
Recruiting
Cincinnati,Ohio,45229-3026,United States
University of California Davis Health System
Recruiting
Sacramento,California,95817,United States
Oregon Health and Science University
Recruiting
Portland,Oregon,97239-3098,United States
Virginia Commonwealth University Health System
Recruiting
Richmond,Virginia,23298,United States
Children's Hospital of Los Angeles
Recruiting
Los Angeles,California,90027,United States
Golisano Children's Hospital of Southwest Florida
Recruiting
Fort Myers,Florida,33908,United States
University of Pittsburgh Medical Center
Recruiting
Pittsburgh,Pennsylvania,15224,United States
Connecticut Children's Medical Center
Recruiting
Farmington,Connecticut,06034,United States
University of California Los Angeles Health
Recruiting
Los Angeles,California,90095,United States
Penn State Hershey
Recruiting
Hershey,Pennsylvania,17033,United States
Washington University School of Medicine in St. Louis
Recruiting
Saint Louis,Missouri,63110,United States
Children's Hospital of Orange County
Recruiting
Madera,California,93638,United States
MultiCare Health System
Recruiting
Tacoma,Washington,98405,United States
University of Rochester Medical Center
Recruiting
Rochester,New York,14642,United States
Seattle Children's
Recruiting
Seattle,Washington,98105,United States
Cook Children's
Recruiting
Fort Worth,Texas,76104,United States
University of Iowa
Recruiting
Iowa City,Iowa,52242-1009,United States
Adventist Health System - Florida
Recruiting
Orlando,Florida,32803,United States
Children's Hospital of The King's Daughters
Recruiting
Norfolk,Virginia,23507,United States
Phoenix Children's Hospital
Recruiting
Phoenix,Arizona,85016,United States
Texas Children's Hospital
Recruiting
Houston,Texas,77030,United States
Indiana University Health University Hospital (IUHUH)
Recruiting
Indianapolis,Indiana,46202,United States
University of Utah
Recruiting
Salt Lake City,Utah,84113,United States
Nationwide Children's Hospital
Recruiting
Columbus,Ohio,43205,United States
Worldwide Contacts
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