AzTrials
AzTrials

Spinal Muscular Atrophy (SMA)NCT04174157

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

An observational study of Spinal Muscular Atrophy (SMA), run by Novartis Pharmaceuticals at 99 sites in 11 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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. Read more about this study

Who is it for?
Any age
Conditions the study is for
Spinal Muscular Atrophy (SMA)
What is being tested?
Prospective observational registry and Zolgensma
How many people
700 participants
Where
99 sitesin 11 countries
Study dates
25 Sep 2018to 30 Jun 2038
How long will I take part?
15 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: The study will enroll at least 500 patients with a genetically confirmed diagnosis of SMA. The registry will attempt to enroll all patients treated with OAV-101 in the registry until the end of 2026.

Who may be able to join

  • Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
  • Appropriate consent/assent has been obtained for participation in the registry

Who cannot join

  • Currently enrolled in an interventional clinical trial involving an investigational medicinal 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.

Trial locations and contacts

99 sites in 11 countries. Contact the study team or a site near you to ask about taking part.

Novartis Gene Therapies contact

1-888-669-6682

novartis.email@novartis.com

Novartis Gene Therapies contact

+4161324111

99 sites in 11 countries

United States50 sites, 42 recruiting

  • Akron Children's Hospital

    Akron, Ohio, 44308-1062

    Completed

  • Children's Hospital Colorado

    Aurora, Colorado, 80045

    Margaret Finlay, 720-777-1234, margaret.finlay@childrenscolorado.org

    Julie Parsons, MD

    Recruiting

  • Child Neurology Consultants of Austin

    Austin, Texas, 78731

    Completed

  • University of Virginia Health System

    Charlottesville, Virginia, 22908

    Chelsea Masterson, 434-297-5737, CDM5FA@hscmail.mcc.virginia.edu

    Rebecca Scharf, MD

    Recruiting

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio, 45229-3026

    Emily Hunsaker, 513-636-5511, emily.hunsaker@cchmc.org

    Cuixia Tian, MD

    Recruiting

  • University Hospitals

    Cleveland, Ohio, 44106

    Completed

  • University of Missouri Health System

    Columbia, Missouri, 65212

    Anne Bonnett, 573-884-6119, bonnetta@health.missouri.edu

    Jane Emerson, MD

    Recruiting

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205

    Megan Waldrop, 614-722-2231, Megan.WAldrop@nationwidechildrens.org

    Megan Waldrop, MD

    Recruiting

  • Children's Health

    Dallas, Texas, 75207

    Completed

  • Duke Health

    Durham, North Carolina, 27705

    Karen Cornett, 919-684-1143, k.cornett@duke.edu

    Mai Elmallah, MD

    Recruiting

  • Connecticut Children's Medical Center

    Farmington, Connecticut, 06034

    Hendriana Nielsen, 860-837-5881, HNielsen@connecticutchildrens.org

    James Santanelli, (860) 837-5873, jsantanelli@connecticutchidlrens.org

    Recruiting

  • Golisano Children's Hospital of Southwest Florida

    Fort Myers, Florida, 33908

    Britt Stroud, MD, 239-343-5437, britt.stroud@leehealth.org

    Molly Arnstrom, (239) 343-5437, Molly.arnstrom@leehealth.org

    Recruiting

  • Cook Children's

    Fort Worth, Texas, 76104

    Kayla Blough, 682-319-5312, Kayla.blough@cookchildrens.org

    Warren Marks, MD

    Recruiting

  • Prisma Health

    Greenville, South Carolina, 29615

    Addie Hunnicutt Hunnicutt, 864-454-5110, ahunnicutt@ghs.org

    Addie Hunnicutt, (864) 454-5110, ahunnicutt@ghs.org

    Recruiting

  • Penn State Hershey

    Hershey, Pennsylvania, 17033

    Ellen Stoute, 717-531-1260, estoute@pennstatehealth.psu.edu

    Ashutosh Kumar, MD, (717) 531-8790, akumar5@pennstatehealth.psu.edu

    Recruiting

  • Texas Children's Hospital

    Houston, Texas, 77030

    Felize Singleton, 832-824-1640, felize.singleton@bcm.edu

    Timothy Lotze, MD

    Recruiting

  • Indiana University Health University Hospital (IUHUH)

    Indianapolis, Indiana, 46202

    Marcia Felker, MD, 317-948-7450, mamccann@iupui.edu

    Leanne Dunn, 317-278-7815, lkhernan@iu.edu

    Recruiting

  • University of Iowa

    Iowa City, Iowa, 52242-1009

    Chandra Miller, 319-384-9618, Chandra-miller@uiowa.edu

    Carrie Stephan, (319) 356-2673, Carrie-stephan@uiowa.edu

    Recruiting

  • University of Kansas Medical Center

    Kansas City, Kansas, 66160

    Rebecca Clay, 913-588-1227, rclay@kumc.edu

    Jeffrey Statland, MD

    Recruiting

  • Arkansas Children's Hospital

    Little Rock, Arkansas, 72202

    Kapil Arya, 501-364-1850, karya@uams.edu

    Kapil Arya, MD

    Recruiting

  • Loma Linda University Health

    Loma Linda, California, 92350

    Completed

  • Children's Hospital of Los Angeles

    Los Angeles, California, 90027

    Martha Arellano-Garcia, 323-361-5812, margarcia@chla.usc.edu

    Claudia Dozal, (323) 361-5825, cdozal@chla.usc.edu

    Recruiting

  • University of California Los Angeles Health

    Los Angeles, California, 90095

    Huynh Jennifer, 310-825-3564, JenniferH@mednet.ucla.edu

    Perry Shieh, MD, PhD

    Recruiting

  • University of Louisville

    Louisville, Kentucky, 40202

    Lauren Evanczyk, 502-588-3650, Lauren.evanczyk@nortonhealthcare.org

    Arpita Lakhotia, MD

    Recruiting

  • Valley Children's Healthcare

    Madera, California, 93636

    Raymund David, MD, 559-353-6215, RDavid@valleychildrens.org

    Raymund David, MD

    Recruiting

  • Children's Hospital of Orange County

    Madera, California, 93638

    Amanda Fernandez, MD, 559-353-6215, afernandez@choc.org

    Linda Do, (714) 696-2665, Linh.Do@choc.org

    Recruiting

  • University of Wisconsin

    Madison, Wisconsin, 53792

    Maggie Chilsen, 608-263-2704, mchilsen@clinicaltrials.wisc.edu

    Jennifer Kwon, MD

    Recruiting

  • Methodist Le Bonheur Healthcare

    Memphis, Tennessee, 38103

    Farimah Salami, 901-287-4509, Farimah.Salami@lebonheur.org

    Elena Caron, MD

    Recruiting

  • Nicklaus Children's Hospital

    Miami, Florida, 33155

    Completed

  • Children's Hospital of Wisconsin

    Milwaukee, Wisconsin, 53226

    Rupa Nallamothu, 414-955-0685, rnallamothu@mcw.edu

    Rebecca Rehborg, (414) 805-8369, rrehborg@mcw.edu

    Recruiting

  • University of Minnesota

    Minneapolis, Minnesota, 55455

    Seth Stafki, MD, 218-298-2747, stafk006@umn.edu

    Peter Karachunski, MD

    Recruiting

  • Atlantic Health System

    Morristown, New Jersey, 07960

    Darius Adams, MD, 518-262-5120, adamsd@mail.amc.edu

    Darius Adams, MD

    Recruiting

  • Yale-New Haven Health System

    New Haven, Connecticut, 06510

    Catherine Tsao, 203-785-4390, catherine.tsao@yale.edu

    Cristian Ionita, MD

    Recruiting

  • Children's Hospital of The King's Daughters

    Norfolk, Virginia, 23507

    Cassandra Todd, 757-846-1969, Cassandra.Todd@chkd.org

    Crystal Proud, MD

    Recruiting

  • Oklahoma University Medical Center

    Oklahoma City, Oklahoma, 73104

    Completed

  • Adventist Health System - Florida

    Orlando, Florida, 32803

    Completed

  • Jackson South Medical Center

    Palmetto Bay, Florida, 33157

    Paula Schleifer, MD, 305-279-2226, pschleifer@fcneurology.net

    Paula Schleifer, MD

    Recruiting

  • Phoenix Children's Hospital

    Phoenix, Arizona, 85016

    Alison Lane, 602-933-0885, alane@phoenixchildrens.com

    Saunder Bernes, MD

    Recruiting

  • University of Pittsburgh Medical Center

    Pittsburgh, Pennsylvania, 15224

    Emma Sekscinski, 302-393-6102, ecs112@pitt.edu

    Hoda Abdel-Hamid, MD

    Recruiting

  • Oregon Health and Science University

    Portland, Oregon, 97239-3098

    Bryn McCarthy, 503-418-8297, McCarbry@ohsu.edu

    Erika Finanger, MD

    Recruiting

  • Virginia Commonwealth University Health System

    Richmond, Virginia, 23298

    Ana Rosa Rezeq, 804-828-1445, Anarosa.rezeq@vcuhealth.org

    Amy Harper, MD

    Recruiting

  • University of Rochester Medical Center

    Rochester, New York, 14642

    Bohoon Lee, 585-275-2776, Bohoon_Lee@URMC.Rochester.edu

    Kim Hart Kim_, Hart@URMC.Rochester.edu

    Recruiting

  • University of California Davis Health System

    Sacramento, California, 95817

    Rachel (Ja Yoon) Baek, 916-734-2439, jrbaek@ucdavis.edu

    Nanette Joyce, DO

    Recruiting

  • University of Utah

    Salt Lake City, Utah, 84113

    Sarah Moldt, 801-585-9399, sarah.moldt@hsc.utah.edu

    Russell Butterfield, MD, PhD

    Recruiting

  • CHRISTUS Health

    San Antonio, Texas, 78207

    Melissa Svoboda, MD, 210-704-4715, melissa.svoboda@bcm.edu

    Melissa Svoboda, MD

    Recruiting

  • Rady Children's Hospital San Diego

    San Diego, California, 92123

    Chamindra Konersman, MD, 858-966-5819, ckonersman@health.ucsd.edu

    Napat Intarachumnum, 858-576-1700, nintarachumnum@health.ucsd.edu

    Recruiting

  • Seattle Children's

    Seattle, Washington, 98105

    Marissa Robertson, 206-987-5457, Marissa.Robertson@seattlechildrens.org

    Seth Perlman, MD

    Recruiting

  • Washington University School of Medicine in St. Louis

    St Louis, Missouri, 63110

    Natalie Goedeker, 314-362-4919, ngoedeker@wustl.edu

    Craig Zaidman, MD

    Recruiting

  • The State University of New York

    Stony Brook, New York, 11794

    Christine Pol, 631-444-9083, Christiana.Pol@stonybrookmedicine.edu

    Simona Treidler, MD

    Recruiting

  • MultiCare Health System

    Tacoma, Washington, 98405

    Beky Stone, 971-319-0237, Becky.Stone@multicare.org

    Anisha Schwarz, MD

    Recruiting

Other trials in United States

Japan19 sites

  • Chiba children's Hospital

    Chiba, Chiba, 266-0007

    Active, not recruiting

  • Fukui Prefectural Hospital

    Fukui, 910-8526

    Active, not recruiting

  • Gifu Prefectural General Medical Center

    Gifu, Gifu, 500-8717

    Active, not recruiting

  • Hamamatsu University School of Medicine, University Hospital

    Hamamatsu, Shizuoka, 431-3192

    Active, not recruiting

  • Obihiro Kosei Hospital

    Hokkaido, Obihiro-shi, 080-0024

    Active, not recruiting

  • Nikko Memorial Hospital

    Hokkaido, 051-0005

    Active, not recruiting

  • Kagawa University Hospital

    Kita-gun, Kagawa-ken, 761-0793

    Active, not recruiting

  • Kumamoto University Hospital

    Kumamoto, Kumamoto, 860-8556

    Active, not recruiting

  • Kurume University Hospital

    Kurume-shi, Fukuoka, 830-0011

    Active, not recruiting

  • Shiga Medical Center for Children

    Moriyama-shi, Shiga, 524-0022

    Active, not recruiting

  • Aichi Medical University Hospital

    Nagakute-shi, Aichi-ken, 480-1195

    Active, not recruiting

  • Dokkyo Medical University Saitama Medical Center

    Saitama, 343-0845

    Active, not recruiting

  • Sapporo Medical University Hospital

    Sapporo, Hokkaido, 060-8543

    Active, not recruiting

  • Miyagi Children's Hospital

    Sendai, Miyagi, 989-3126

    Active, not recruiting

  • Jichi Medical University Hospital

    Shimotsuke-shi, Tochigi, 329-0498

    Active, not recruiting

  • Tokyo Medical University Hospital

    Shinjuku-ku, Tokyo, 160-0023

    Active, not recruiting

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

    Shinjuku-ku, Tokyo, 162-8655

    Active, not recruiting

  • Fujita Health University Hospital

    Toyoake-shi, Aichi-ken, 470-1192

    Active, not recruiting

  • Kanagawa Children's Medical Center

    Yokohama, Kanagawa, 232-8555

    Active, not recruiting

Other trials in Japan

South Korea7 sites, 7 recruiting

  • Kyungpook National University Hospital

    Daegu, 41944

    Jeong Jin Yun, SC, +82-10-7942-7673, sylyu01@naver.com

    Yunjeong Lee, MD

    Recruiting

  • Seoul National University Bundang Hospital

    Seongnam-si, 13620

    Anna Cho, MD, +82-31-787-7301, annacho77@snu.ac.kr

    Anna Cho, MD

    Recruiting

  • Seoul National University Children's Hospital

    Seoul, 03080

    Miae Kim, SC, +82-2-6072-5185, sellykma@snuh.org

    MD

    Recruiting

  • Severance Hospital

    Seoul, 03722

    Hoonchul Kang, MD, 02-2228-2050, HIPO0207@yuhs.ac

    Hoonchul Kang, MD

    Recruiting

  • Samsung Medical Centre

    Seoul, 06351

    Min Jeong Kim, SC, +82-2-2148-7606, tgkimmj@naver.com

    Jiwon Lee

    Recruiting

  • Pusan National University Yangsan Hospital

    Yangsan, 50612

    Yunjin Lee, MD, +82-55-360-2180, jinnyeye@hanmail.net

    Yunjin Lee, MD

    Recruiting

  • Yongin Severance Hospital

    Yongin-si, 16995

    Lae-song Noh, SC, +82-10-4061-2483, YI771998@yuhs.ac

    Haneul Lee

    Recruiting

Other trials in South Korea

Portugal5 sites, 5 recruiting

  • CHUC - Hospital Pediatrico

    Coimbra, 300-6020

    Joana Ribeiro, MD, (+351) 239 800 100, 10675@chuc.min-saude.pt

    Joana Ribeiro, MD

    Recruiting

  • Centro Hospitalar Universitaria de Lisboa Central, EPE

    Lisbon, 1169-045

    Jose Pedro Vieira, MD, (+351) 213 126 944, Jose.vieira@chlc.min-suade.pt

    Jose Pedro Vieira, MD

    Recruiting

  • Centro Hospitalar Universitario Lisboa Norte, EPE

    Lisbon, 1649-035

    Teresa Moreno, MD, (+351) 915 668 130, ped.ensaioscaml@gmail.com

    Joana Coelho, MD, (+351) 965 560 339, joanamalveirocoelho@gmail.com

    Recruiting

  • Centro Hospitalar Universitario de Porto, EPE

    Porto, 4050-371

    Cristina Garrido, MD, (+351) 222 077 500, cgarridopt@gmail.com

    Cristina Garrido, MD

    Recruiting

  • Centro Hospitalar Universitario de Sao Joao, EPE

    Porto, 4200-319

    Raquel Carvalho Sousa, MD, (+351) 225 512 100, Rccarvalhosousa@gmail.com

    Raquel Carvalho Sousa

    Recruiting

Other trials in Portugal

Taiwan5 sites, 5 recruiting

  • Kaohsiung Medical University Chung-Ho Memorial Hospital

    Kaohsiung City, 80756

    Yuh-Jyh Jong, MD, +886-7-312-1101 ext. 6507, yjjong@gap.kmu.edu.tw

    Yuh-Jyh Jong, MD

    Recruiting

  • China Medical University Hospital

    Taichung, 404327

    I-Ching Chou, MD, +886- 4-22052121, 004009@tool.caaumed.org.tw

    +886- 4-22052121 ext. 4641, 004009@tool.caaumed.org.tw

    Recruiting

  • National Taiwan University Hospital

    Taipei, 100229

    Yin-Hsiu CHIEN, MD, +886-2-23123456 #271937, chienyh@ntu.edu.tw

    Yin-Hsiu CHIEN, MD

    Recruiting

  • Taipei Veterans General Hospital

    Taipei, 11217

    Dau-Ming NIU, MD, +886-2-28712121 #8486, dmniu1111@yahoo.com.tw

    Dau-Ming NIU

    Recruiting

  • Chang Gung Memorial Hospital Linkou Branch

    Taoyuan, 333

    I-Jun CHOU, MD, +886-3-328-1200 #7865, ijun@adm.cgmh.org.tw

    I-Jun CHOU, MD

    Recruiting

Other trials in Taiwan

Greece4 sites, 4 recruiting

  • University General Hospital Attikon

    Chaïdári, Athens, 124 62

    Argyrios Dinopoulos, MD, +30 210 583 1000, argidino@yahoo.com

    Argyrios Dinopoulos, MD

    Recruiting

  • Penteli Children's Hospital

    Pentéli, Attikis, 152 36

    Chrysanthi Tsimakidi, +30 213 205 2200, Chrysanthit@hotmail.com

    Chrysanthi Tsimakidi

    Recruiting

  • St. Sophia Children's Hospital

    Thessaloniki, 115 27

    Maria Roser-Pons, MD, +30 213 201 3000, roserpons@med.uoa.gr

    Maria Roser-Pons, MD, MD

    Recruiting

  • General Hospital of Thessaloniki Ippokrateio

    Thessaloniki, 546 42

    Dimitrios Zafeiriou, MD, +30 2310 99 29 63, dizafeir@auth.gr

    Dimitrios Zafeiriou, MD

    Recruiting

Other trials in Greece

Israel4 sites, 4 recruiting

  • Soroka Medical Centre

    Beersheba, 85025

    Iris Noyman, MD, 972-86245911, IRISN@clalit.org.il

    Iris Noyman, MD

    Recruiting

  • Wolfson Medical Center

    Holon, 5822012

    Mira Ginsberg, MD, 972-3-5028936, miraginsberg@gmail.com

    Mira Ginsberg, MD

    Recruiting

  • Tel-Aviv Sourasky Medical Center

    Holon, 582201

    Aviva Fattal, MD, 972-3-6974115, afatal@post.tau.ac.il

    Aviva Fattal, MD

    Recruiting

  • Schneider- Children's Medical Center

    Petah Tikva, 4920235

    Sharon Aharoni, MD, 972-3-9253398, Sharonah@clalit.org.il

    Sharon Aharoni, MD

    Recruiting

Other trials in Israel

Romania2 sites, 2 recruiting

  • Centrul de Recuperare pentru Copii dr. Nicolae Robanescu

    Bucharest, 041408

    Madalina Cristina Leanca, MD, (+40) 726 274 907, mada332@yahoo.com

    Madalina Cristina Leanca

    Recruiting

  • Spitalul Clinic de Psihiatrie

    Bucharest, 041914

    Loana Minciu, MD, (+40) 722 548 137, Iminciu@yahoo.com

    Loana Minciu

    Recruiting

Other trials in Romania

Ireland1 site, 1 recruiting

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

    Dublin, 1 D01 XD99

    Declan O Rourke, MD, +353 1 8784722, declan.orourke@cuh.ie

    Recruiting

Other trials in Ireland

Poland1 site, 1 recruiting

  • Uniwersytecki Szpital Dzieciec

    Lublin, 20-093

    Magdalena Chroscinska-Krawczyk, MD, (+48) 669 487 491, magdalenachk@wp.pl

    Magdalena Chroscinska-Krawczyk, MD

    Recruiting

Other trials in Poland

Russia1 site, 1 recruiting

  • Almazov National Medical Research Centre

    Saint Petersburg, 197341

    Natalia Petrova, MD, +79110090808, natalja5@yandex.ru

    Natalia Petrova, md

    Recruiting

Other trials in Russia

About this study

Official title: A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

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.

Read the detailed 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.

Being tested
Prospective observational registry, Zolgensma
Medical subject headings
Muscular Atrophy, Spinal

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Prospective observational registryOther

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

  • ZolgensmaDrug

    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

Study groups in NCT04174157
Study groupRoleWhat they receive
Prospective observational registryThis is a prospective, multi center, multinational, non-interventional observational registry.
Receives: Other: Prospective observational registry; Drug: Zolgensma

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate

    Measured: Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.

  2. Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA

    CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  3. Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA

    HINE score range from 0 to 26 with higher scores indicating more development.

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  4. Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA

    HFMSE score range from 0 to 66 with the higher scores indicating more development.

    Measured: Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up

  5. Incidence of treatment emergent adverse events

    Measured: Through 15 years of follow up

  6. Incidence of treatment emergent serious adverse events

    Measured: Through 15 years of follow up

  7. Incidence of treatment emergent adverse events related to therapy

    Measured: Through 15 years of follow up

  8. Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events

    Measured: Through 15 years of follow up

Secondary outcomes (7)

  1. Change from baseline in rates of hospitalization

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  2. Change from baseline in Zarit Burden Interview

    Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden.

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  3. Change from baseline in PedsQL Patient interview

    PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  4. Change from baseline in PedsQL Parent interview

    PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  5. Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube)

    Measured: : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  6. Change from baseline in in percent of patients requiring nutritional support (Gastrostomy Tube, Gastrojejunal tube (GT) with Nissen fundoplication, GT without Nissen fundoplication, Nasogastrictube, Nasojejunaltube or Percutaneous endoscopic gastrostomy)

    Measured: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

  7. Change from baseline in in percent of patients requiring mobility device support (Ankle-Foot Orthoses, Supramalleolar Orthosis, Orthotic/shoe inserts, Knee immobilizers, Knee-Ankle-Foot Orthoses , Hand splints, Spinal bracing)

    Measured: : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted22 Nov 2019
  2. Study start25 Sep 2018
  3. Primary completion30 Jun 2038 (estimated)
  4. Study completion30 Jun 2038 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Ecologic or community
Time perspective
Prospective
Enrolment
700 participants (estimated)
Target duration
15 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT04174157
Sponsor's protocol ID
COAV101A12001
Status last verified
Jan 2025
First submitted
12 Sep 2019
Last updated
31 Jan 2025
Results posted
No
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
Undecided: Authorship of planned manuscripts for submission to medical journals shall be determined in accordance with the International Committee of Medical Journal Editors (ICMJE) Uniform Requirements for Manuscripts Submitted to Biomedical Journals (www.icmje.org). The physician agrees that if the physician is part of a multi-center registry, the physician shall coordinate in advance any intended disclosure of the results of the registry with Novartis Gene Therapies to ensure that the results of individual physicians are not published or presented before those of the multi-center registry, unless otherwise agreed to in writing by Novartis Gene Therapies.
Expanded access
Available

Publications

  • Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3.

    PubMed 21811307

  • Saito K, Benguerba K, Tsuchida K, Yazawa K, Tsumiyama I, Kayama H, Reyna SP, Khan F, Finkel RS. Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan. Ann Clin Transl Neurol. 2026 Jun 9:10.1002/acn3.70437. doi: 10.1002/acn3.70437. Online ahead of print.

    PubMed 42265796

  • Erbas Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS. Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry. J Neuromuscul Dis. 2026 Jul;13(4):788-794. doi: 10.1177/22143602251395173. Epub 2025 Nov 11.

    PubMed 41217888

Questions about this trial

What is this clinical trial studying?

An observational study of Spinal Muscular Atrophy (SMA), run by Novartis Pharmaceuticals at 99 sites in 11 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 31 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 99 sites in United States, Japan, South Korea, Portugal, Taiwan and 6 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Novartis Gene Therapies (1-888-669-6682, novartis.email@novartis.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate (time frame: Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04174157, which also lists 3 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Jan 2025.

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