Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Last updated: January 30, 2025
Sponsor: Novartis Pharmaceuticals
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Myasthenia Gravis (Chronic Weakness)

Spinal Muscular Atrophy

Treatment

Prospective observational registry

Zolgensma

Clinical Study ID

NCT04174157
COAV101A12001
  • All Genders

Study Summary

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.

The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Patients treated with OAV-101 with a genetically confirmed diagnosis of SMAregardless of the date of diagnosis.

  • Appropriate consent/assent has been obtained for participation in the registry

Exclusion

Exclusion Criteria:

  • Currently enrolled in an interventional clinical trial involving an investigationalmedicinal product to treat SMA.

Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-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 a genetic or clinical diagnosis of SMA.

Study Design

Total Participants: 700
Treatment Group(s): 2
Primary Treatment: Prospective observational registry
Phase:
Study Start date:
September 25, 2018
Estimated Completion Date:
June 30, 2038

Study Description

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.

Connect with a study center

  • University General Hospital Attikon

    Chaïdári, Athens 124 62
    Greece

    Active - Recruiting

  • Penteli Children's Hospital

    Penteli, Attikis 152 36
    Greece

    Active - Recruiting

  • St. Sophia Children's Hospital

    Thessaloniki, 115 27
    Greece

    Active - Recruiting

  • General Hospital of Thessaloniki Ippokrateio

    Thessaloníki, 546 42
    Greece

    Active - Recruiting

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

    Dublin, 1 D01 XD99
    Ireland

    Active - Recruiting

  • Soroka Medical Centre

    Be'er Sheva, 85025
    Israel

    Active - Recruiting

  • Wolfson Medical Center

    Holon, 5822012
    Israel

    Active - Recruiting

  • Tel-Aviv Sourasky Medical Center

    H̱olon, 582201
    Israel

    Active - Recruiting

  • Schneider- Children's Medical Center

    Petah tikva, 4920235
    Israel

    Active - Recruiting

  • Konan Kosei Hospital

    Konan, Aichi 483-8704
    Japan

    Site Not Available

  • Aichi Medical University Hospital

    Nagakute-shi, Aichi 480-1195
    Japan

    Site Not Available

  • Fujita Health University Hospital

    Toyoake-shi, Aichi 470-1192
    Japan

    Site Not Available

  • Chiba children's Hospital

    Chiba-shi, Chiba 266-0007
    Japan

    Site Not Available

  • Ehime University Hospital

    Toon, Ehime 791-0295
    Japan

    Site Not Available

  • Kurume University Hospital

    Kurume-shi, Fukuoka 830-0011
    Japan

    Site Not Available

  • Gifu Prefectural General Medical Center

    Gifu-shi, Gifu 500-8717
    Japan

    Site Not Available

  • Nikko Memorial Hospital

    Muroran-shi, Hokkaido 051-8501
    Japan

    Site Not Available

  • Obihiro Kosei Hospital

    Obihiro, Hokkaido 080-0024
    Japan

    Site Not Available

  • Sapporo Medical University Hospital

    Sapporo-shi, Hokkaido 060-8543
    Japan

    Site Not Available

  • Kagawa University Hospital

    Kita-gun, Kagawa 761-0793
    Japan

    Site Not Available

  • Kanagawa Children's Medical Center

    Yokohama-shi, Kanagawa 232-8555
    Japan

    Site Not Available

  • Kawasaki Municipal Tama Hospital

    Kanagawa, Kawasaki-shi 214-8525
    Japan

    Site Not Available

  • Kagawa University Hospital

    Kagawa, Kita-gun 761-0793
    Japan

    Site Not Available

  • Kumamoto University Hospital

    Kumamoto-shi, Kumamoto 860-8556
    Japan

    Site Not Available

  • Miyagi Children's Hospital

    Sendai-shi, Miyagi 989-3126
    Japan

    Site Not Available

  • Obihiro Kosei Hospital

    Hokkaido, Obihiro-shi 080-0024
    Japan

    Site Not Available

  • Dokkyo Medical University

    Koshigaya, Saitama 343-8555
    Japan

    Site Not Available

  • Shiga Medical Center for Children

    Moriyama-shi, Shiga 524-0022
    Japan

    Site Not Available

  • Hamamatsu University School of Medicine, University Hospital

    Hamamatsu-shi, Shizuoka 431-3192
    Japan

    Site Not Available

  • Jichi Medical University Hospital

    Shimotsuke-shi, Tochigi 329-0498
    Japan

    Site Not Available

  • Tokyo Metropolitan Neurological Hospital

    Fuchu, Tokyo 183-0042
    Japan

    Site Not Available

  • Center Hospital of the National Center for Global Health and Medicine

    Shinjuku-ku, Tokyo 162-8655
    Japan

    Site Not Available

  • Tokyo Medical University Hospital

    Shinjuku-ku, Tokyo 160-0023
    Japan

    Site Not Available

  • Chiba children's Hospital

    Chiba, 266-0007
    Japan

    Site Not Available

  • Fukui Prefectural Hospital

    Fukui, 910-8526
    Japan

    Site Not Available

  • Gifu Prefectural General Medical Center

    Gifu, 500-8717
    Japan

    Site Not Available

  • Nikko Memorial Hospital

    Hokkaido, 051-0005
    Japan

    Site Not Available

  • Dokkyo Medical University Saitama Medical Center

    Saitama, 343-0845
    Japan

    Site Not Available

  • Saitama Children's Medical Center

    Saitama, 330-8777
    Japan

    Site Not Available

  • Keio University Hospital

    Tokyo, 160-8582
    Japan

    Site Not Available

  • Kyungpook National University Hospital

    Daegu, 41944
    Korea, Republic of

    Active - Recruiting

  • Seoul National University Bundang Hospital

    Seongnam-si, 13620
    Korea, Republic of

    Active - Recruiting

  • Samsung Medical Centre

    Seoul, 06351
    Korea, Republic of

    Active - Recruiting

  • Seoul National University Children's Hospital

    Seoul, 03080
    Korea, Republic of

    Active - Recruiting

  • Severance Hospital

    Seoul, 03722
    Korea, Republic of

    Active - Recruiting

  • Pusan National University Yangsan Hospital

    Yangsan, 50612
    Korea, Republic of

    Active - Recruiting

  • Yongin Severance Hospital

    Yongin-si, 16995
    Korea, Republic of

    Active - Recruiting

  • Uniwersytecki Szpital Dzieciec

    Lublin, 20-093
    Poland

    Active - Recruiting

  • CHUC - Hospital Pediatrico

    Coimbra, 300-6020
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitaria de Lisboa Central, EPE

    Lisboa, 1169-045
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitario Lisboa Norte, EPE

    Lisboa, 1649-035
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitario de Porto, EPE

    Porto, 4050-371
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitario de Sao Joao, EPE

    Porto, 4200-319
    Portugal

    Active - Recruiting

  • Centrul de Recuperare pentru Copii dr. Nicolae Robanescu

    Bucharest, 041408
    Romania

    Active - Recruiting

  • Spitalul Clinic de Psihiatrie

    Bucharest, 041914
    Romania

    Active - Recruiting

  • Almazov National Medical Research Centre

    Saint Petersburg, 197341
    Russian Federation

    Active - Recruiting

  • Kaohsiung Medical University Chung-Ho Memorial Hospital

    Kaohsiung city, 80756
    Taiwan

    Active - Recruiting

  • China Medical University Hospital

    Taichung, 404327
    Taiwan

    Active - Recruiting

  • National Taiwan University Hospital

    Taipei, 100229
    Taiwan

    Active - Recruiting

  • Taipei Veterans General Hospital

    Taipei, 11217
    Taiwan

    Active - Recruiting

  • Chang Gung Memorial Hospital Linkou Branch

    Taoyuan, 333
    Taiwan

    Active - Recruiting

  • Phoenix Children's Hospital

    Phoenix, Arizona 85016
    United States

    Active - Recruiting

  • Arkansas Children's Hospital

    Little Rock, Arkansas 72202
    United States

    Active - Recruiting

  • Loma Linda University Health

    Loma Linda, California 92350
    United States

    Completed

  • Children's Hospital of Los Angeles

    Los Angeles, California 90027
    United States

    Active - Recruiting

  • University of California Los Angeles Health

    Los Angeles, California 90095
    United States

    Active - Recruiting

  • Children's Hospital of Orange County

    Madera, California 93638
    United States

    Active - Recruiting

  • Valley Children's Healthcare

    Madera, California 93636
    United States

    Active - Recruiting

  • Children's Hospital of Orange County

    Orange, California 92868-3874
    United States

    Site Not Available

  • University of California Davis Health System

    Sacramento, California 95817
    United States

    Active - Recruiting

  • Rady Children's Hospital San Diego

    San Diego, California 92123
    United States

    Active - Recruiting

  • Children's Hospital Colorado

    Aurora, Colorado 80045
    United States

    Active - Recruiting

  • Connecticut Children's Medical Center

    Farmington, Connecticut 06034
    United States

    Active - Recruiting

  • Yale-New Haven Health System

    New Haven, Connecticut 06510
    United States

    Active - Recruiting

  • Golisano Children's Hospital of Southwest Florida

    Fort Myers, Florida 33908
    United States

    Active - Recruiting

  • Nicklaus Children's Hospital

    Miami, Florida 33155
    United States

    Completed

  • Adventist Health System - Florida

    Orlando, Florida 32803
    United States

    Completed

  • Jackson South Medical Center

    Palmetto Bay, Florida 33157
    United States

    Active - Recruiting

  • Indiana University Health University Hospital (IUHUH)

    Indianapolis, Indiana 46202
    United States

    Active - Recruiting

  • University of Iowa

    Iowa City, Iowa 52242-1009
    United States

    Active - Recruiting

  • University of Kansas Medical Center

    Kansas City, Kansas 66160
    United States

    Active - Recruiting

  • University of Louisville

    Louisville, Kentucky 40202
    United States

    Active - Recruiting

  • Boston Children's Hospital

    Boston, Massachusetts 02115
    United States

    Site Not Available

  • Beaumont Health System

    Royal Oak, Michigan 48073
    United States

    Site Not Available

  • University of Minnesota

    Minneapolis, Minnesota 55455
    United States

    Active - Recruiting

  • University of Missouri Health System

    Columbia, Missouri 65212
    United States

    Active - Recruiting

  • Washington University School of Medicine in St. Louis

    Saint Louis, Missouri 63110
    United States

    Active - Recruiting

  • Atlantic Health System

    Morristown, New Jersey 07960
    United States

    Active - Recruiting

  • University of Rochester Medical Center

    Rochester, New York 14642
    United States

    Active - Recruiting

  • The State University of New York

    Stony Brook, New York 11794
    United States

    Active - Recruiting

  • Duke Health

    Durham, North Carolina 27705
    United States

    Active - Recruiting

  • Akron Children's Hospital

    Akron, Ohio 44308-1062
    United States

    Completed

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio 45229-3026
    United States

    Active - Recruiting

  • University Hospitals

    Cleveland, Ohio 44106
    United States

    Completed

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Active - Recruiting

  • Oklahoma University Medical Center

    Oklahoma City, Oklahoma 73104
    United States

    Completed

  • Oregon Health and Science University

    Portland, Oregon 97239-3098
    United States

    Active - Recruiting

  • Penn State Hershey

    Hershey, Pennsylvania 17033
    United States

    Active - Recruiting

  • University of Pittsburgh Medical Center

    Pittsburgh, Pennsylvania 15224
    United States

    Active - Recruiting

  • Prisma Health

    Greenville, South Carolina 29615
    United States

    Active - Recruiting

  • Methodist Le Bonheur Healthcare

    Memphis, Tennessee 38103
    United States

    Active - Recruiting

  • Child Neurology Consultants of Austin

    Austin, Texas 78731
    United States

    Completed

  • Children's Health

    Dallas, Texas 75207
    United States

    Completed

  • Cook Children's

    Fort Worth, Texas 76104
    United States

    Active - Recruiting

  • Texas Children's Hospital

    Houston, Texas 77030
    United States

    Active - Recruiting

  • CHRISTUS Health

    San Antonio, Texas 78207
    United States

    Active - Recruiting

  • University of Utah

    Salt Lake City, Utah 84113
    United States

    Active - Recruiting

  • University of Virginia Health System

    Charlottesville, Virginia 22908
    United States

    Active - Recruiting

  • Children's Hospital of The King's Daughters

    Norfolk, Virginia 23507
    United States

    Active - Recruiting

  • Virginia Commonwealth University Health System

    Richmond, Virginia 23298
    United States

    Active - Recruiting

  • Seattle Children's

    Seattle, Washington 98105
    United States

    Active - Recruiting

  • MultiCare Health System

    Tacoma, Washington 98405
    United States

    Active - Recruiting

  • University of Wisconsin

    Madison, Wisconsin 53792
    United States

    Active - Recruiting

  • Children's Hospital of Wisconsin

    Milwaukee, Wisconsin 53226
    United States

    Active - Recruiting

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