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,Dimitrios Zafeiriou, MD ((+30) 2310 99 29 63) email: [email protected] -- Dimitrios Zafeiriou, MD,546 42,Greece

University General Hospital Attikon

Recruiting

Chaïdári,Argyrios Dinopoulos, MD ((+30) 210 583 1000) email: [email protected] -- Argyrios Dinopoulos, MD,124 62 - Athens,Greece

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

Recruiting

Dublin,Declan O Rourke, MD (+353 1 8784722) email: [email protected],1 D01 XD99,Ireland

Wolfson Medical Center

Recruiting

Holon,Mira Ginsberg, MD (972-3-5028936) email: [email protected] -- Mira Ginsberg, MD,5822012,Israel

Soroka Medical Centre

Recruiting

Be'er Sheva,Iris Noyman, MD (972-86245911) email: [email protected] -- Iris Noyman, MD,85025,Israel

Tel-Aviv Sourasky Medical Center

Recruiting

H̱olon,Aviva Fattal, MD (972-3-6974115) email: [email protected] -- Aviva Fattal, MD,582201,Israel

Schneider- Children's Medical Center

Recruiting

Petah tikva,Sharon Aharoni, MD (972-3-9253398) email: [email protected] -- Sharon Aharoni, MD,4920235,Israel

Jichi Medical University Hospital

Recruiting

Shimotsuke-shi,Takanori Yamagata (+81-285-44-2111) email: [email protected] -- Takanori Yamagata,329-0498 - Tochigi,Japan

Obihiro Kosei Hospital

Recruiting

Hokkaido,Kimiaki Uetake (+81-155-65-0101) email: [email protected] -- Kimiaki Uetake,080-0024 - Obihiro-shi,Japan

Shiga Medical Center for Children

Recruiting

Moriyama-shi,Kenji Inoue (+81-77-582-6200) -- Kenji Inoue,524-0022 - Shiga,Japan

Kagawa University Hospital

Recruiting

Kita-gun,Yukihiko Konishi (+81-87-898-5111) email: [email protected] -- Yukihiko Konishi,761-0793 - Kagawa,Japan

Gifu Prefectural General Medical Center

Recruiting

Gifu-shi,Atsushi Imamura (+81-58-246-1111) email: [email protected] -- Atsushi Imamura, MD,500-8717 - Gifu,Japan

Sapporo Medical University Hospital

Recruiting

Sapporo-shi,Shinobu Fukumura (+81-11-611-2111) email: [email protected] -- Shinobu Fukumura,060-8543 - Hokkaido,Japan

Kanagawa Children's Medical Center

Recruiting

Yokohama-shi,Tomohide Goto (+81-45-711-2351) email: [email protected] -- Tomohide Goto, MD,232-8555 - Kanagawa,Japan

Miyagi Children's Hospital

Recruiting

Sendai-shi,Yukimune Okubo (+81-22-391-5111) -- Yukimune Okubo,989-3126 - Miyagi,Japan

Center Hospital of the National Center for Global Health and Medicine

Recruiting

Shinjuku-ku,Reiko Arakawa (+81-3-3202-7181) email: [email protected] -- Reiko Arakawa, MD,162-8655 - Tokyo,Japan

Hamamatsu University School of Medicine, University Hospital

Recruiting

Hamamatsu-shi,Tokiko Fukuda (+81-53-435-2111) email: [email protected] -- Tokiko Fukuda,431-3192 - Shizuoka,Japan

Kumamoto University Hospital

Recruiting

Kumamoto-shi,Shiro Ozasa (+81-96-344-2111) email: [email protected] -- Shiro Ozasa,860-8556 - Kumamoto,Japan

Chiba children's Hospital

Recruiting

Chiba-shi,Taku Omata (+81-43-292-2111) email: [email protected] -- Taku Omata, MD,266-0007 - Chiba,Japan

Kurume University Hospital

Recruiting

Kurume-shi,Kotaro Yuge (+81-942-38-1792) -- Kotaro Yuge, MD,830-0011 - Fukuoka,Japan

Fukui Prefectural Hospital

Recruiting

Fukui,Genrei Ohta (+81-776-54-5151) -- Genrei Ohta,910-8526,Japan

Seoul National University Bundang Hospital

Recruiting

Seongnam-si,Anna Cho, MD (+82-31-787-7301) email: [email protected] -- Anna Cho, MD,13620,Korea, Republic of

Severance Hospital

Recruiting

Seoul,Hoonchul Kang, MD (02-2228-2050) email: [email protected] -- Hoonchul Kang, MD,03722,Korea, Republic of

Kyungpook National University Hospital

Recruiting

Daegu,Yunjeong Lee, MD email: [email protected] -- Yunjeong Lee, MD,41944,Korea, Republic of

Pusan National University Yangsan Hospital

Recruiting

Yangsan,Yunjin Lee, MD (+82-55-360-2180) email: [email protected] -- Yunjin Lee, MD,50612,Korea, Republic of

Centro Hospitalar Universitario Lisboa Norte, EPE

Recruiting

Lisboa,Teresa Moreno, MD ((+351) 915 668 130) email: [email protected] -- Joana Coelho, MD ((+351) 965 560 339) email: [email protected] -- Teresa Moreno, MD,1649-035,Portugal

Almazov National Medical Research Centre

Recruiting

Saint Petersburg,Natalia Petrova, MD (+79110090808) email: [email protected] -- Natalia Petrova, md,197341,Russian Federation

Kaohsiung Medical University Chung-Ho Memorial Hospital

Recruiting

Kaohsiung city,Yuh-Jyh Jong, MD (+886-7-312-1101 ext: 6507) email: [email protected] -- Yuh-Jyh Jong, MD,80756,Taiwan

Washington University School of Medicine in St. Louis

Recruiting

Saint Louis,Natalie Goedeker (314-362-4919) email: [email protected] -- Craig Zaidman, MD,63110 - Missouri,United States

Children's Health

Recruiting

Dallas,Tammy Ramm (214-456-4426) email: [email protected] -- Leah Taylor ((214) 456-3686) email: [email protected] -- Susan Iannaccone, MD,75207 - Texas,United States

University of Rochester Medical Center

Recruiting

Rochester,Bohoon Lee (585-275-2776) email: [email protected] -- James Hilbert ((585) 273-5590) email: [email protected] -- Bohoon Lee, MD,14642 - New York,United States

Arkansas Children's Hospital

Recruiting

Little Rock,Kapil Arya (501-364-1850) email: [email protected] -- Kapil Arya, MD,72202 - Arkansas,United States

Loma Linda University Health

Recruiting

Loma Linda,Jaclyn Lopez, MD (909-558-5830) email: [email protected] -- David Michelson, MD,92350 - California,United States

CHRISTUS Health

Recruiting

San Antonio,Melissa Svoboda, MD (210-704-4715) email: [email protected] -- Melissa Svoboda, MD,78207 - Texas,United States

Rady Children's Hospital San Diego

Recruiting

San Diego,Chamindra Konersman, MD (858-966-5819) email: [email protected] -- Sabrina D'Alfonso (858-246-5634) email: [email protected] -- Chamindra Konersman, MD,92123 - California,United States

University of Iowa

Recruiting

Iowa City,Chandra Miller (319-384-9618) email: [email protected] -- Carrie Stephan ((319) 356-2673) email: [email protected] -- Katherine Mathews, MD,52242-1009 - Iowa,United States

Texas Children's Hospital

Recruiting

Houston,Steffy Jose (832-824-6646) email: [email protected] -- Timothy Lotze, MD,77030 - Texas,United States

Children's Hospital Colorado

Recruiting

Aurora,Allison Stone (720-777-6143) email: [email protected] -- Julie Parsons, MD,80045 - Colorado,United States

Oklahoma University Medical Center

Recruiting

Oklahoma City,Danielle DeMarzo, MD (405-271-8685) email: [email protected] -- Erin Coffman (405-271-8001) email: [email protected] -- Danielle DeMarzo, MD,73104 - Oklahoma,United States

University of Utah

Recruiting

Salt Lake City,Sarah Moldt (801-585-9399) email: [email protected] -- Russell Butterfield, MD, PhD,84113 - Utah,United States

Methodist Le Bonheur Healthcare

Recruiting

Memphis,Farimah Salami (901-287-4509) email: [email protected] -- Elena Caron, MD,38103 - Tennessee,United States

Atlantic Health System

Recruiting

Morristown,Darius Adams, MD (518-262-5120) email: [email protected] -- Darius Adams, MD,07960 - New Jersey,United States

University of Kansas Medical Center

Recruiting

Kansas City,Rebecca Clay (913-588-1227) email: [email protected] -- Jeffrey Statland, MD,66160 - Kansas,United States

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati,Emily Hunsaker (513-636-5511) email: [email protected] -- Cuixia Tian, MD,45229-3026 - Ohio,United States

Yale-New Haven Health System

Recruiting

New Haven,Catherine Tsao (203-785-4390) email: [email protected] -- Cristian Ionita, MD,06510 - Connecticut,United States

Oregon Health and Science University

Recruiting

Portland,Bryn McCarthy (503-418-8297) email: [email protected] -- Erika Finanger, MD,97239-3098 - Oregon,United States

The State University of New York

Recruiting

Stony Brook,Christine Pol (631-444-9083) email: [email protected] -- Simona Treidler, MD,11794 - New York,United States

Children's Hospital of Los Angeles

Recruiting

Los Angeles,Martha Arellano-Garcia (323-361-5812) email: [email protected] -- Claudia Dozal ((323) 361-5825) email: [email protected] -- Leigh Maria Ramos-Platt, MD,90027 - California,United States

University of Virginia Health System

Recruiting

Charlottesville,Chelsea Masterson (434-297-5737) email: [email protected] -- Rebecca Scharf, MD,22908 - Virginia,United States

Golisano Children's Hospital of Southwest Florida

Recruiting

Fort Myers,Britt Stroud, MD (239-343-5437) email: [email protected] -- Molly Arnstrom ((239) 343-5437) email: [email protected] -- Britt Stroud, MD,33908 - Florida,United States

University of Louisville

Recruiting

Louisville,Lauren Evanczyk (502-588-3650) email: [email protected] -- Arpita Lakhotia, MD,40202 - Kentucky,United States

Connecticut Children's Medical Center

Recruiting

Farmington,Hendriana Nielsen (860-837-5881) email: [email protected] -- James Santanelli ((860) 837-5873) email: [email protected] -- Gyula Acsadi, MD, PhD,06034 - Connecticut,United States

Penn State Hershey

Recruiting

Hershey,Ellen Stoute (717-531-1260) email: [email protected] -- Ashutosh Kumar, MD ((717) 531-8790) email: [email protected],17033 - Pennsylvania,United States

Children's Hospital of Orange County

Recruiting

Madera,Amanda Fernandez, MD (559-353-6215) email: [email protected] -- Linda Do ((714) 696-2665) email: [email protected] -- Amanda Fernandez, MD,93638 - California,United States

University of Wisconsin

Recruiting

Madison,Maggie Chilsen (608-263-2704) email: [email protected] -- Jennifer Kwon, MD,53792 - Wisconsin,United States

MultiCare Health System

Recruiting

Tacoma,Amber Brown (253-272-2350) email: [email protected] -- Anisha Schwarz, MD,98405 - Washington,United States

Seattle Children's

Recruiting

Seattle,Marissa Robertson (206-987-5457) email: [email protected] -- Leslie Vogel ((206) 987-3128) email: [email protected] -- Seth Perlman, MD,98105 - Washington,United States

University of Minnesota

Recruiting

Minneapolis,Natalya Alassy, MD (612-626-4690) email: [email protected] -- Peter Karachunski, MD,55455 - Minnesota,United States

Cook Children's

Recruiting

Fort Worth,Amanda Westbrook (682-885-6918) email: [email protected] -- Warren Marks, MD,76104 - Texas,United States

Adventist Health System - Florida

Recruiting

Orlando,Brooke Hartwell (407-303-2086) email: [email protected] -- Kihyeong Lee, MD,32803 - Florida,United States

Phoenix Children's Hospital

Recruiting

Phoenix,Nakia Croft (602-933-0641) email: [email protected] -- Saunder Bernes, MD,85016 - Arizona,United States

University Hospitals

Recruiting

Cleveland,Nancy Bass (216-444-3691) email: [email protected] -- Jerry Tribout ((216) 286-0228) email: [email protected] -- Nancy Bass, MD,44106 - Ohio,United States

Children's Hospital of The King's Daughters

Recruiting

Norfolk,Ashley Vasko (757-668-9991) email: [email protected] -- Crystal Proud, MD,23507 - Virginia,United States

Valley Children's Healthcare

Recruiting

Madera,Raymund David, MD (559-353-6215) email: [email protected] -- Raymund David, MD,93636 - California,United States

Indiana University Health University Hospital (IUHUH)

Recruiting

Indianapolis,Marcia Felker, MD (317-948-7450) email: [email protected] -- Jill Mazurczyk ((317) 418-1060) email: [email protected] -- Marcia Felker, MD,46202 - Indiana,United States

Nationwide Children's Hospital

Recruiting

Columbus,Jessica Noel-Morgan (614-355-3428) email: [email protected] -- Megan Waldrop ((614) 722-2231) email: [email protected] -- Megan Waldrop, MD,43205 - Ohio,United States

University of Missouri Health System

Recruiting

Columbia,Anne Bonnett (573-884-6119) email: [email protected] -- Jane Emerson, MD,65212 - Missouri,United States

Duke Health

Recruiting

Durham,Karen Cornett (919-684-1143) email: [email protected] -- Edward Smith, MD,27705 - North Carolina,United States

Akron Children's Hospital

Recruiting

Akron,Ian Rossman, MD, PhD (330-543-8050) email: [email protected] -- Ian Rossman, MD, PhD,44308-1062 - Ohio,United States

Prisma Health

Recruiting

Greenville,Carrie Frost (864-454-5174) email: [email protected] -- Addie Hunnicutt ((864) 454-5110) email: [email protected] -- Addie Hunnicutt, MD,29615 - South Carolina,United States

University of California Davis Health System

Recruiting

Sacramento,Rachel (Ja Yoon) Baek (916-734-2439) email: [email protected] -- Nanette Joyce, DO,95817 - California,United States

Children's Hospital of Wisconsin

Recruiting

Milwaukee,Rupa Nallamothu (414-955-0685) email: [email protected] -- Rebecca Rehborg ((414) 805-8369) email: [email protected] -- Matthew Harmelink, MD,53226 - Wisconsin,United States

Virginia Commonwealth University Health System

Recruiting

Richmond,Ana Rosa Rezeq (804-828-1445) email: [email protected] -- Nicholas Johnson, MD,23298 - Virginia,United States

Jackson South Medical Center

Recruiting

Palmetto Bay,Paula Schleifer, MD (305-279-2226) email: [email protected] -- Paula Schleifer, MD,33157 - Florida,United States

Child Neurology Consultants of Austin

Recruiting

Austin,Leyra Santiago (512-494-4000 ext: 265) email: [email protected] -- Jinfon Ong, MD,78731 - Texas,United States

Nicklaus Children's Hospital

Recruiting

Miami,Mari Vega (786-624-3516) email: [email protected] -- Paula Schleifer, MD,33155 - Florida,United States

University of Pittsburgh Medical Center

Recruiting

Pittsburgh,Casey Matthews (610-360-5342) email: [email protected] -- Hoda Abdel-Hamid, MD,15224 - Pennsylvania,United States

University of California Los Angeles Health

Recruiting

Los Angeles,Huynh Jennifer (310-825-3564) email: [email protected] -- Perry Shieh, MD, PhD,90095 - California,United States

Worldwide Contacts

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

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