Recruiting

Observational StudyRegistry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Sponsor:

Novartis Pharmaceuticals

Code:

NCT04174157

Conditions

Spinal Muscular Atrophy (SMA)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Prospective observational registry

Zolgensma

Study Details

Brief 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.

Conditions

Spinal Muscular Atrophy (SMA)

Study ID

NCT04174157

Start date

Sep 25, 2018

Status verified date

Jan, 2025

Completion date

Jun 30, 2038

Anticipated

Primary completion date

Jun 30, 2038

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

700 participants

Anticipated

Interventions and Outcome Measures

Arms

Prospective observational registry

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

Interventions

Prospective observational registry

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

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

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. ]
Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA [ Time Frame: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up ]
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA [ Time Frame: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up ]
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA [ Time Frame: Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up ]
Incidence of treatment emergent adverse events [ Time Frame: Through 15 years of follow up ]
Incidence of treatment emergent serious adverse events [ Time Frame: Through 15 years of follow up ]
Incidence of treatment emergent adverse events related to therapy [ Time Frame: Through 15 years of follow up ]
Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events [ Time Frame: Through 15 years of follow up ]

Central Contacts and Locations

Central contacts

Novartis Gene Therapies

1-888-669-6682 novartis.email@novartis.com

Novartis Gene Therapies

+4161324111

Locations

Phoenix Children's Hospital

Recruiting

Phoenix, Arizona, United States, 85016

Contacts

Alison Lane

602-933-0885 alane@phoenixchildrens.com

Principal Investigator:

Saunder Bernes, MD

Arkansas Children's Hospital

Recruiting

Little Rock, Arkansas, United States, 72202

Contacts

Kapil Arya

501-364-1850 karya@uams.edu

Principal Investigator:

Kapil Arya, MD

Children's Hospital of Los Angeles

Recruiting

Los Angeles, California, United States, 90027

Contacts

Martha Arellano-Garcia

323-361-5812 margarcia@chla.usc.edu

Claudia Dozal

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

Principal Investigator:

Leigh Maria Ramos-Platt, MD

University of California Los Angeles Health

Recruiting

Los Angeles, California, United States, 90095

Contacts

Huynh Jennifer

310-825-3564 JenniferH@mednet.ucla.edu

Principal Investigator:

Perry Shieh, MD, PhD

Valley Children's Healthcare

Recruiting

Madera, California, United States, 93636

Contacts

Raymund David, MD

559-353-6215 RDavid@valleychildrens.org

Principal Investigator:

Raymund David, MD

Children's Hospital of Orange County

Recruiting

Madera, California, United States, 93638

Contacts

Amanda Fernandez, MD

559-353-6215 afernandez@choc.org

Linda Do

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

Principal Investigator:

Amanda Fernandez, MD

University of California Davis Health System

Recruiting

Sacramento, California, United States, 95817

Contacts

Rachel (Ja Yoon) Baek

916-734-2439 jrbaek@ucdavis.edu

Principal Investigator:

Nanette Joyce, DO

Rady Children's Hospital San Diego

Recruiting

San Diego, California, United States, 92123

Contacts

Chamindra Konersman, MD

858-966-5819 ckonersman@health.ucsd.edu

Napat Intarachumnum

858-576-1700 nintarachumnum@health.ucsd.edu

Principal Investigator:

Chamindra Konersman, MD

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Margaret Finlay

720-777-1234 margaret.finlay@childrenscolorado.org

Principal Investigator:

Julie Parsons, MD

Connecticut Children's Medical Center

Recruiting

Farmington, Connecticut, United States, 06034

Contacts

Hendriana Nielsen

860-837-5881 HNielsen@connecticutchildrens.org

James Santanelli

(860) 837-5873 jsantanelli@connecticutchidlrens.org

Principal Investigator:

Gyula Acsadi, MD, PhD

Yale-New Haven Health System

Recruiting

New Haven, Connecticut, United States, 06510

Contacts

Catherine Tsao

203-785-4390 catherine.tsao@yale.edu

Principal Investigator:

Cristian Ionita, MD

Golisano Children's Hospital of Southwest Florida

Recruiting

Fort Myers, Florida, United States, 33908

Contacts

Britt Stroud, MD

239-343-5437 britt.stroud@leehealth.org

Molly Arnstrom

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

Principal Investigator:

Britt Stroud, MD

Jackson South Medical Center

Recruiting

Palmetto Bay, Florida, United States, 33157

Contacts

Paula Schleifer, MD

305-279-2226 pschleifer@fcneurology.net

Principal Investigator:

Paula Schleifer, MD

Indiana University Health University Hospital (IUHUH)

Recruiting

Indianapolis, Indiana, United States, 46202

Contacts

Marcia Felker, MD

317-948-7450 mamccann@iupui.edu

Leanne Dunn

317-278-7815 lkhernan@iu.edu

Principal Investigator:

Marcia Felker, MD

University of Iowa

Recruiting

Iowa City, Iowa, United States, 52242-1009

Contacts

Chandra Miller

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

Carrie Stephan

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

Principal Investigator:

Katherine Mathews, MD

University of Kansas Medical Center

Recruiting

Kansas City, Kansas, United States, 66160

Contacts

Rebecca Clay

913-588-1227 rclay@kumc.edu

Principal Investigator:

Jeffrey Statland, MD

University of Louisville

Recruiting

Louisville, Kentucky, United States, 40202

Contacts

Lauren Evanczyk

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

Principal Investigator:

Arpita Lakhotia, MD

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Seth Stafki, MD

218-298-2747 stafk006@umn.edu

Principal Investigator:

Peter Karachunski, MD

University of Missouri Health System

Recruiting

Columbia, Missouri, United States, 65212

Contacts

Anne Bonnett

573-884-6119 bonnetta@health.missouri.edu

Principal Investigator:

Jane Emerson, MD

Washington University School of Medicine in St. Louis

Recruiting

Saint Louis, Missouri, United States, 63110

Contacts

Natalie Goedeker

314-362-4919 ngoedeker@wustl.edu

Principal Investigator:

Craig Zaidman, MD

Atlantic Health System

Recruiting

Morristown, New Jersey, United States, 07960

Contacts

Darius Adams, MD

518-262-5120 adamsd@mail.amc.edu

Principal Investigator:

Darius Adams, MD

University of Rochester Medical Center

Recruiting

Rochester, New York, United States, 14642

Contacts

Bohoon Lee

585-275-2776 Bohoon_Lee@URMC.Rochester.edu

Kim Hart Kim_

Hart@URMC.Rochester.edu

Principal Investigator:

Bohoon Lee, MD

The State University of New York

Recruiting

Stony Brook, New York, United States, 11794

Contacts

Christine Pol

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

Principal Investigator:

Simona Treidler, MD

Duke Health

Recruiting

Durham, North Carolina, United States, 27705

Contacts

Karen Cornett

919-684-1143 k.cornett@duke.edu

Principal Investigator:

Mai Elmallah, MD

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229-3026

Contacts

Emily Hunsaker

513-636-5511 emily.hunsaker@cchmc.org

Principal Investigator:

Cuixia Tian, MD

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

Contacts

Megan Waldrop

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

Principal Investigator:

Megan Waldrop, MD

Oregon Health and Science University

Recruiting

Portland, Oregon, United States, 97239-3098

Contacts

Bryn McCarthy

503-418-8297 McCarbry@ohsu.edu

Principal Investigator:

Erika Finanger, MD

Penn State Hershey

Recruiting

Hershey, Pennsylvania, United States, 17033

Contacts

Ellen Stoute

717-531-1260 estoute@pennstatehealth.psu.edu

Ashutosh Kumar, MD

(717) 531-8790 akumar5@pennstatehealth.psu.edu

University of Pittsburgh Medical Center

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Emma Sekscinski

302-393-6102 ecs112@pitt.edu

Principal Investigator:

Hoda Abdel-Hamid, MD

Prisma Health

Recruiting

Greenville, South Carolina, United States, 29615

Contacts

Addie Hunnicutt Hunnicutt

864-454-5110 ahunnicutt@ghs.org

Addie Hunnicutt

(864) 454-5110 ahunnicutt@ghs.org

Principal Investigator:

Addie Hunnicutt, MD

Methodist Le Bonheur Healthcare

Recruiting

Memphis, Tennessee, United States, 38103

Contacts

Farimah Salami

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

Principal Investigator:

Elena Caron, MD

Cook Children's

Recruiting

Fort Worth, Texas, United States, 76104

Contacts

Kayla Blough

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

Principal Investigator:

Warren Marks, MD

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Felize Singleton

832-824-1640 felize.singleton@bcm.edu

Principal Investigator:

Timothy Lotze, MD

CHRISTUS Health

Recruiting

San Antonio, Texas, United States, 78207

Contacts

Melissa Svoboda, MD

210-704-4715 melissa.svoboda@bcm.edu

Principal Investigator:

Melissa Svoboda, MD

University of Utah

Recruiting

Salt Lake City, Utah, United States, 84113

Contacts

Sarah Moldt

801-585-9399 sarah.moldt@hsc.utah.edu

Principal Investigator:

Russell Butterfield, MD, PhD

University of Virginia Health System

Recruiting

Charlottesville, Virginia, United States, 22908

Contacts

Chelsea Masterson

434-297-5737 CDM5FA@hscmail.mcc.virginia.edu

Principal Investigator:

Rebecca Scharf, MD

Children's Hospital of The King's Daughters

Recruiting

Norfolk, Virginia, United States, 23507

Contacts

Cassandra Todd

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

Principal Investigator:

Crystal Proud, MD

Virginia Commonwealth University Health System

Recruiting

Richmond, Virginia, United States, 23298

Contacts

Ana Rosa Rezeq

804-828-1445 Anarosa.rezeq@vcuhealth.org

Principal Investigator:

Amy Harper, MD

Seattle Children's

Recruiting

Seattle, Washington, United States, 98105

Contacts

Marissa Robertson

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

Principal Investigator:

Seth Perlman, MD

MultiCare Health System

Recruiting

Tacoma, Washington, United States, 98405

Contacts

Beky Stone

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

Principal Investigator:

Anisha Schwarz, MD

University of Wisconsin

Recruiting

Madison, Wisconsin, United States, 53792

Contacts

Maggie Chilsen

608-263-2704 mchilsen@clinicaltrials.wisc.edu

Principal Investigator:

Jennifer Kwon, MD

Children's Hospital of Wisconsin

Recruiting

Milwaukee, Wisconsin, United States, 53226

Contacts

Rupa Nallamothu

414-955-0685 rnallamothu@mcw.edu

Rebecca Rehborg

(414) 805-8369 rrehborg@mcw.edu

Principal Investigator:

Matthew Harmelink, MD

More Information

Sponsor

Novartis Pharmaceuticals

Last update posted

Jan 31, 2025

Last verified

Jan, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Novartis Pharmaceuticals on 2025-01-31.