Last Update: Apr 19, 2023
A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
ClinicalTrials.gov Identifier:
Novartis Reference Number:AVXS-101-RG-001
All compounds are either investigational or being studied for (a) new use(s). Efficacy and safety have not been established. There is no guarantee that they will become commercially available for the use(s) under investigation.

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.

Spinal Muscular Atrophy (SMA)
Recruiting
500
Sep 25, 2018
All
- (Child, Adult, Older Adult)

Interventions

Other

Prospective observational registry

This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
Drug

Zolgensma

Zolgensma will be given to patients as per normal clinical practice and clinical care will not be mandated by the protocol. As such, the decision to prescribe Zolgensma is separate from the decision to include the patient in this study

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

General Hospital of Thessaloniki Ippokrateio

Recruiting

Thessaloníki,546 42,Greece

University General Hospital Attikon

Recruiting

Chaïdári,Athens,124 62,Greece

Children's University Hospital-UCD School of Medicine Scoil an Leighis

Recruiting

Dublin,1 d01 xd99,Ireland

Wolfson Medical Center

Recruiting

Holon,5822012,Israel

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

Chiba children's Hospital

Recruiting

Chiba-shi,Chiba,266-0007,Japan

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

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

Indiana University Health University Hospital (IUHUH)

Recruiting

Indianapolis,Indiana,46202,United States

Nationwide Children's Hospital

Recruiting

Columbus,Ohio,43205,United States

University Hospitals

Recruiting

Cleveland,Ohio,44106,United States

Valley Children's Healthcare

Recruiting

Madera,California,93636,United States

Duke Health

Recruiting

Durham,North Carolina,27705,United States

Akron Children's Hospital

Recruiting

Akron,Ohio,44308-1062,United States

Children's Hospital of Wisconsin

Recruiting

Milwaukee,Wisconsin,53226,United States

Prisma Health

Recruiting

Greenville,South Carolina,29615,United States

University of Missouri Health System

Recruiting

Columbia,Missouri,65212,United States

Jackson South Medical Center

Recruiting

Palmetto Bay,Florida,33157,United States

University of California Davis Health System

Recruiting

Sacramento,California,95817,United States

Child Neurology Consultants of Austin

Recruiting

Austin,Texas,78731,United States

Nicklaus Children's Hospital

Recruiting

Miami,Florida,33155,United States

Virginia Commonwealth University Health System

Recruiting

Richmond,Virginia,23298,United States

University of Pittsburgh Medical Center

Recruiting

Pittsburgh,Pennsylvania,15224,United States

University of California Los Angeles Health

Recruiting

Los Angeles,California,90095,United States

Children's Health

Recruiting

Dallas,Texas,75207,United States

Washington University School of Medicine in St. Louis

Recruiting

Saint Louis,Missouri,63110,United States

Loma Linda University Health

Recruiting

Loma Linda,California,92350,United States

Arkansas Children's Hospital

Recruiting

Little Rock,Arkansas,72202,United States

University of Rochester Medical Center

Recruiting

Rochester,New York,14642,United States

CHRISTUS Health

Recruiting

San Antonio,Texas,78207,United States

Rady Children's Hospital San Diego

Recruiting

San Diego,California,92123,United States

Oklahoma University Medical Center

Recruiting

Oklahoma City,Oklahoma,73104,United States

University of Iowa

Recruiting

Iowa City,Iowa,52242-1009,United States

Children's Hospital Colorado

Recruiting

Aurora,Colorado,80045,United States

Methodist Le Bonheur Healthcare

Recruiting

Memphis,Tennessee,38103,United States

Texas Children's Hospital

Recruiting

Houston,Texas,77030,United States

Atlantic Health System

Recruiting

Morristown,New Jersey,07960,United States

University of Utah

Recruiting

Salt Lake City,Utah,84113,United States

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati,Ohio,45229-3026,United States

Oregon Health and Science University

Recruiting

Portland,Oregon,97239-3098,United States

University of Kansas Medical Center

Recruiting

Kansas City,Kansas,66160,United States

Children's Hospital of Los Angeles

Recruiting

Los Angeles,California,90027,United States

Yale-New Haven Health System

Recruiting

New Haven,Connecticut,06510,United States

Golisano Children's Hospital of Southwest Florida

Recruiting

Fort Myers,Florida,33908,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

Connecticut Children's Medical Center

Recruiting

Farmington,Connecticut,06034,United States

Penn State Hershey

Recruiting

Hershey,Pennsylvania,17033,United States

University of Louisville

Recruiting

Louisville,Kentucky,40202,United States

Children's Hospital of Orange County

Recruiting

Madera,California,93638,United States

MultiCare Health System

Recruiting

Tacoma,Washington,98405,United States

Seattle Children's

Recruiting

Seattle,Washington,98105,United States

University of Wisconsin

Recruiting

Madison,Wisconsin,53792,United States

Cook Children's

Recruiting

Fort Worth,Texas,76104,United States

Adventist Health System - Florida

Recruiting

Orlando,Florida,32803,United States

Phoenix Children's Hospital

Recruiting

Phoenix,Arizona,85016,United States

University of Minnesota

Recruiting

Minneapolis,Minnesota,55455,United States

Children's Hospital of The King's Daughters

Recruiting

Norfolk,Virginia,23507,United States

Worldwide Contacts

If the location of your choosing does not feature any contact detail, please reach out using the information below.

Novartis Gene Therapies (former AveXis) Medinfo