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

NCT ID: NCT04174157

Last Updated: 2025-01-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

700 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-09-25

Study Completion Date

2038-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Spinal Muscular Atrophy (SMA)

Study Design

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Observational Model Type

ECOLOGIC_OR_COMMUNITY

Study Time Perspective

PROSPECTIVE

Study Groups

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Prospective observational registry

This is a prospective, multi center, multinational, non-interventional observational registry.

Prospective observational registry

Intervention Type OTHER

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

Zolgensma

Intervention Type DRUG

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

Interventions

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Prospective observational registry

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

Intervention Type OTHER

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

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

\- 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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Novartis Pharmaceuticals

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Novartis Pharmaceuticals

Role: STUDY_DIRECTOR

Novartis Pharmaceuticals

Locations

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Phoenix Children's Hospital

Phoenix, Arizona, United States

Site Status RECRUITING

Arkansas Children's Hospital

Little Rock, Arkansas, United States

Site Status RECRUITING

Loma Linda University Health

Loma Linda, California, United States

Site Status COMPLETED

Children's Hospital of Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

University of California Los Angeles Health

Los Angeles, California, United States

Site Status RECRUITING

Valley Children's Healthcare

Madera, California, United States

Site Status RECRUITING

Children's Hospital of Orange County

Madera, California, United States

Site Status RECRUITING

University of California Davis Health System

Sacramento, California, United States

Site Status RECRUITING

Rady Children's Hospital San Diego

San Diego, California, United States

Site Status RECRUITING

Children's Hospital Colorado

Aurora, Colorado, United States

Site Status RECRUITING

Connecticut Children's Medical Center

Farmington, Connecticut, United States

Site Status RECRUITING

Yale-New Haven Health System

New Haven, Connecticut, United States

Site Status RECRUITING

Golisano Children's Hospital of Southwest Florida

Fort Myers, Florida, United States

Site Status RECRUITING

Nicklaus Children's Hospital

Miami, Florida, United States

Site Status COMPLETED

Adventist Health System - Florida

Orlando, Florida, United States

Site Status COMPLETED

Jackson South Medical Center

Palmetto Bay, Florida, United States

Site Status RECRUITING

Indiana University Health University Hospital (IUHUH)

Indianapolis, Indiana, United States

Site Status RECRUITING

University of Iowa

Iowa City, Iowa, United States

Site Status RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, United States

Site Status RECRUITING

University of Louisville

Louisville, Kentucky, United States

Site Status RECRUITING

University of Minnesota

Minneapolis, Minnesota, United States

Site Status RECRUITING

University of Missouri Health System

Columbia, Missouri, United States

Site Status RECRUITING

Washington University School of Medicine in St. Louis

St Louis, Missouri, United States

Site Status RECRUITING

Atlantic Health System

Morristown, New Jersey, United States

Site Status RECRUITING

University of Rochester Medical Center

Rochester, New York, United States

Site Status RECRUITING

The State University of New York

Stony Brook, New York, United States

Site Status RECRUITING

Duke Health

Durham, North Carolina, United States

Site Status RECRUITING

Akron Children's Hospital

Akron, Ohio, United States

Site Status COMPLETED

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

University Hospitals

Cleveland, Ohio, United States

Site Status COMPLETED

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status RECRUITING

Oklahoma University Medical Center

Oklahoma City, Oklahoma, United States

Site Status COMPLETED

Oregon Health and Science University

Portland, Oregon, United States

Site Status RECRUITING

Penn State Hershey

Hershey, Pennsylvania, United States

Site Status RECRUITING

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Prisma Health

Greenville, South Carolina, United States

Site Status RECRUITING

Methodist Le Bonheur Healthcare

Memphis, Tennessee, United States

Site Status RECRUITING

Child Neurology Consultants of Austin

Austin, Texas, United States

Site Status COMPLETED

Children's Health

Dallas, Texas, United States

Site Status COMPLETED

Cook Children's

Fort Worth, Texas, United States

Site Status RECRUITING

Texas Children's Hospital

Houston, Texas, United States

Site Status RECRUITING

CHRISTUS Health

San Antonio, Texas, United States

Site Status RECRUITING

University of Utah

Salt Lake City, Utah, United States

Site Status RECRUITING

University of Virginia Health System

Charlottesville, Virginia, United States

Site Status RECRUITING

Children's Hospital of The King's Daughters

Norfolk, Virginia, United States

Site Status RECRUITING

Virginia Commonwealth University Health System

Richmond, Virginia, United States

Site Status RECRUITING

Seattle Children's

Seattle, Washington, United States

Site Status RECRUITING

MultiCare Health System

Tacoma, Washington, United States

Site Status RECRUITING

University of Wisconsin

Madison, Wisconsin, United States

Site Status RECRUITING

Children's Hospital of Wisconsin

Milwaukee, Wisconsin, United States

Site Status RECRUITING

University General Hospital Attikon

Chaïdári, Athens, Greece

Site Status RECRUITING

Penteli Children's Hospital

Pentéli, Attikis, Greece

Site Status RECRUITING

St. Sophia Children's Hospital

Thessaloniki, , Greece

Site Status RECRUITING

General Hospital of Thessaloniki Ippokrateio

Thessaloniki, , Greece

Site Status RECRUITING

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

Dublin, , Ireland

Site Status RECRUITING

Soroka Medical Centre

Beersheba, , Israel

Site Status RECRUITING

Wolfson Medical Center

Holon, , Israel

Site Status RECRUITING

Tel-Aviv Sourasky Medical Center

Holon, , Israel

Site Status RECRUITING

Schneider- Children's Medical Center

Petah Tikva, , Israel

Site Status RECRUITING

Aichi Medical University Hospital

Nagakute-shi, Aichi-ken, Japan

Site Status ACTIVE_NOT_RECRUITING

Fujita Health University Hospital

Toyoake-shi, Aichi-ken, Japan

Site Status ACTIVE_NOT_RECRUITING

Chiba children's Hospital

Chiba, Chiba, Japan

Site Status ACTIVE_NOT_RECRUITING

Kurume University Hospital

Kurume-shi, Fukuoka, Japan

Site Status ACTIVE_NOT_RECRUITING

Gifu Prefectural General Medical Center

Gifu, Gifu, Japan

Site Status ACTIVE_NOT_RECRUITING

Sapporo Medical University Hospital

Sapporo, Hokkaido, Japan

Site Status ACTIVE_NOT_RECRUITING

Kagawa University Hospital

Kita-gun, Kagawa-ken, Japan

Site Status ACTIVE_NOT_RECRUITING

Kanagawa Children's Medical Center

Yokohama, Kanagawa, Japan

Site Status ACTIVE_NOT_RECRUITING

Kumamoto University Hospital

Kumamoto, Kumamoto, Japan

Site Status ACTIVE_NOT_RECRUITING

Miyagi Children's Hospital

Sendai, Miyagi, Japan

Site Status ACTIVE_NOT_RECRUITING

Obihiro Kosei Hospital

Hokkaido, Obihiro-shi, Japan

Site Status ACTIVE_NOT_RECRUITING

Shiga Medical Center for Children

Moriyama-shi, Shiga, Japan

Site Status ACTIVE_NOT_RECRUITING

Hamamatsu University School of Medicine, University Hospital

Hamamatsu, Shizuoka, Japan

Site Status ACTIVE_NOT_RECRUITING

Jichi Medical University Hospital

Shimotsuke-shi, Tochigi, Japan

Site Status ACTIVE_NOT_RECRUITING

Tokyo Medical University Hospital

Shinjuku-ku, Tokyo, Japan

Site Status ACTIVE_NOT_RECRUITING

Center Hospital of the National Center for Global Health and Medicine

Shinjuku-ku, Tokyo, Japan

Site Status ACTIVE_NOT_RECRUITING

Fukui Prefectural Hospital

Fukui, , Japan

Site Status ACTIVE_NOT_RECRUITING

Nikko Memorial Hospital

Hokkaido, , Japan

Site Status ACTIVE_NOT_RECRUITING

Dokkyo Medical University Saitama Medical Center

Saitama, , Japan

Site Status ACTIVE_NOT_RECRUITING

Uniwersytecki Szpital Dzieciec

Lublin, , Poland

Site Status RECRUITING

CHUC - Hospital Pediatrico

Coimbra, , Portugal

Site Status RECRUITING

Centro Hospitalar Universitaria de Lisboa Central, EPE

Lisbon, , Portugal

Site Status RECRUITING

Centro Hospitalar Universitario Lisboa Norte, EPE

Lisbon, , Portugal

Site Status RECRUITING

Centro Hospitalar Universitario de Porto, EPE

Porto, , Portugal

Site Status RECRUITING

Centro Hospitalar Universitario de Sao Joao, EPE

Porto, , Portugal

Site Status RECRUITING

Centrul de Recuperare pentru Copii dr. Nicolae Robanescu

Bucharest, , Romania

Site Status RECRUITING

Spitalul Clinic de Psihiatrie

Bucharest, , Romania

Site Status RECRUITING

Almazov National Medical Research Centre

Saint Petersburg, , Russia

Site Status RECRUITING

Kyungpook National University Hospital

Daegu, , South Korea

Site Status RECRUITING

Seoul National University Bundang Hospital

Seongnam-si, , South Korea

Site Status RECRUITING

Seoul National University Children's Hospital

Seoul, , South Korea

Site Status RECRUITING

Severance Hospital

Seoul, , South Korea

Site Status RECRUITING

Samsung Medical Centre

Seoul, , South Korea

Site Status RECRUITING

Pusan National University Yangsan Hospital

Yangsan, , South Korea

Site Status RECRUITING

Yongin Severance Hospital

Yongin-si, , South Korea

Site Status RECRUITING

Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, , Taiwan

Site Status RECRUITING

China Medical University Hospital

Taichung, , Taiwan

Site Status RECRUITING

National Taiwan University Hospital

Taipei, , Taiwan

Site Status RECRUITING

Taipei Veterans General Hospital

Taipei, , Taiwan

Site Status RECRUITING

Chang Gung Memorial Hospital Linkou Branch

Taoyuan District, , Taiwan

Site Status RECRUITING

Countries

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United States Greece Ireland Israel Japan Poland Portugal Romania Russia South Korea Taiwan

Central Contacts

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Novartis Gene Therapies

Role: CONTACT

1-888-669-6682

Novartis Gene Therapies

Role: CONTACT

+4161324111

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Alison Lane

Role: primary

602-933-0885

Kapil Arya

Role: primary

501-364-1850

Martha Arellano-Garcia

Role: primary

323-361-5812

Claudia Dozal

Role: backup

(323) 361-5825

Huynh Jennifer

Role: primary

310-825-3564

Raymund David, MD

Role: primary

559-353-6215

Amanda Fernandez, MD

Role: primary

559-353-6215

Linda Do

Role: backup

(714) 696-2665

Rachel (Ja Yoon) Baek

Role: primary

916-734-2439

Chamindra Konersman, MD

Role: primary

858-966-5819

Napat Intarachumnum

Role: backup

858-576-1700

Margaret Finlay

Role: primary

720-777-1234

Hendriana Nielsen

Role: primary

860-837-5881

James Santanelli

Role: backup

(860) 837-5873

Catherine Tsao

Role: primary

203-785-4390

Britt Stroud, MD

Role: primary

239-343-5437

Molly Arnstrom

Role: backup

(239) 343-5437

Paula Schleifer, MD

Role: primary

305-279-2226

Marcia Felker, MD

Role: primary

317-948-7450

Leanne Dunn

Role: backup

317-278-7815

Chandra Miller

Role: primary

319-384-9618

Carrie Stephan

Role: backup

(319) 356-2673

Rebecca Clay

Role: primary

913-588-1227

Lauren Evanczyk

Role: primary

502-588-3650

Seth Stafki, MD

Role: primary

218-298-2747

Anne Bonnett

Role: primary

573-884-6119

Natalie Goedeker

Role: primary

314-362-4919

Darius Adams, MD

Role: primary

518-262-5120

Bohoon Lee

Role: primary

585-275-2776

Kim Hart Kim_

Role: backup

Christine Pol

Role: primary

631-444-9083

Karen Cornett

Role: primary

919-684-1143

Emily Hunsaker

Role: primary

513-636-5511

Megan Waldrop

Role: primary

614-722-2231

Bryn McCarthy

Role: primary

503-418-8297

Ellen Stoute

Role: primary

717-531-1260

Ashutosh Kumar, MD

Role: backup

(717) 531-8790

Emma Sekscinski

Role: primary

302-393-6102

Addie Hunnicutt Hunnicutt

Role: primary

864-454-5110

Addie Hunnicutt

Role: backup

(864) 454-5110

Farimah Salami

Role: primary

901-287-4509

Kayla Blough

Role: primary

682-319-5312

Felize Singleton

Role: primary

832-824-1640

Melissa Svoboda, MD

Role: primary

210-704-4715

Sarah Moldt

Role: primary

801-585-9399

Chelsea Masterson

Role: primary

434-297-5737

Cassandra Todd

Role: primary

757-846-1969

Ana Rosa Rezeq

Role: primary

804-828-1445

Marissa Robertson

Role: primary

206-987-5457

Beky Stone

Role: primary

971-319-0237

Maggie Chilsen

Role: primary

608-263-2704

Rupa Nallamothu

Role: primary

414-955-0685

Rebecca Rehborg

Role: backup

(414) 805-8369

Argyrios Dinopoulos, MD

Role: primary

+30 210 583 1000

Chrysanthi Tsimakidi

Role: primary

+30 213 205 2200

Chrysanthi Tsimakidi

Role: backup

Maria Roser-Pons, MD

Role: primary

+30 213 201 3000

Maria Roser-Pons, MD, MD

Role: backup

Dimitrios Zafeiriou, MD

Role: primary

+30 2310 99 29 63

Declan O Rourke, MD

Role: primary

+353 1 8784722

Iris Noyman, MD

Role: primary

972-86245911

Mira Ginsberg, MD

Role: primary

972-3-5028936

Aviva Fattal, MD

Role: primary

972-3-6974115

Sharon Aharoni, MD

Role: primary

972-3-9253398

Magdalena Chroscinska-Krawczyk, MD

Role: primary

(+48) 669 487 491

Joana Ribeiro, MD

Role: primary

(+351) 239 800 100

Jose Pedro Vieira, MD

Role: primary

(+351) 213 126 944

Teresa Moreno, MD

Role: primary

(+351) 915 668 130

Joana Coelho, MD

Role: backup

(+351) 965 560 339

Cristina Garrido, MD

Role: primary

(+351) 222 077 500

Raquel Carvalho Sousa, MD

Role: primary

(+351) 225 512 100

Madalina Cristina Leanca, MD

Role: primary

(+40) 726 274 907

Loana Minciu, MD

Role: primary

(+40) 722 548 137

Natalia Petrova, MD

Role: primary

+79110090808

Jeong Jin Yun, SC

Role: primary

+82-10-7942-7673

Anna Cho, MD

Role: primary

+82-31-787-7301

Miae Kim, SC

Role: primary

+82-2-6072-5185

MD

Role: backup

Hoonchul Kang, MD

Role: primary

02-2228-2050

Min Jeong Kim, SC

Role: primary

+82-2-2148-7606

Yunjin Lee, MD

Role: primary

+82-55-360-2180

Lae-song Noh, SC

Role: primary

+82-10-4061-2483

Yuh-Jyh Jong, MD

Role: primary

+886-7-312-1101 ext. 6507

I-Ching Chou, MD

Role: primary

+886- 4-22052121

Role: backup

+886- 4-22052121 ext. 4641

Yin-Hsiu CHIEN, MD

Role: primary

+886-2-23123456 #271937

Dau-Ming NIU, MD

Role: primary

+886-2-28712121 #8486

I-Jun CHOU, MD

Role: primary

+886-3-328-1200 #7865

References

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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.

Reference Type BACKGROUND
PMID: 21811307 (View on PubMed)

Other Identifiers

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COAV101A12001

Identifier Type: -

Identifier Source: org_study_id

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