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

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

ClinicalTrials.gov Identifier: NCT04174157

Novartis Reference Number: AVXS-101-RG-001

Last Update: May 04, 2022

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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.

Condition 
Spinal Muscular Atrophy (SMA)
Phase 
Not Given
Overall status 
Recruiting
Start date 
Sep 25, 2018
Completion date 
Jun 30, 2038
Gender 
All
Age(s)
(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 Locations

United States
Phoenix Children's Hospital
Recruiting
Phoenix, 85016 - Arizona
Contact: Nakia Croft (602-933-0641) - [email protected] - Saunder Bernes, MD
United States
Arkansas Children's Hospital
Recruiting
Little Rock, 72202 - Arkansas
Contact: Kapil Arya (501-364-1850) - [email protected] - Kapil Arya, MD
United States
Loma Linda University Health
Recruiting
Loma Linda, 92350 - California
Contact: Jaclyn Lopez, MD (909-558-5830) - [email protected] - David Michelson, MD
United States
Children's Hospital of Los Angeles
Recruiting
Los Angeles, 90027 - California
Contact: Martha Arellano-Garcia (323-361-5812) - [email protected] - Claudia Dozal ((323) 361-5825) - [email protected] - Leigh Maria Ramos-Platt, MD
United States
University of California Los Angeles Health
Recruiting
Los Angeles, 90095 - California
Contact: Huynh Jennifer (310-825-3564) - [email protected] - Perry Shieh, MD, PhD
United States
Valley Children's Healthcare
Recruiting
Madera, 93636 - California
Contact: Raymund David, MD (559-353-6215) - [email protected] - Raymund David, MD
United States
Children's Hospital of Orange County
Recruiting
Madera, 93638 - California
Contact: Amanda Fernandez, MD (559-353-6215) - [email protected] - Linda Do ((714) 696-2665) - [email protected] - Amanda Fernandez, MD
United States
University of California Davis Health System
Recruiting
Sacramento, 95817 - California
Contact: Rachel (Ja Yoon) Baek (916-734-2439) - [email protected] - Nanette Joyce, DO
United States
Rady Children's Hospital San Diego
Recruiting
San Diego, 92123 - California
Contact: Chamindra Konersman, MD (858-966-5819) - [email protected] - Sabrina D'Alfonso (858-246-5634) - [email protected] - Chamindra Konersman, MD
United States
Children's Hospital Colorado
Recruiting
Aurora, 80045 - Colorado
Contact: Allison Stone (720-777-6143) - [email protected] - Julie Parsons, MD
United States
Connecticut Children's Medical Center
Recruiting
Farmington, 06034 - Connecticut
Contact: Hendriana Nielsen (860-837-5881) - [email protected] - James Santanelli ((860) 837-5873) - [email protected] - Gyula Acsadi, MD, PhD
United States
Yale-New Haven Health System
Recruiting
New Haven, 06510 - Connecticut
Contact: Catherine Tsao (203-785-4390) - [email protected] - Cristian Ionita, MD
United States
Golisano Children's Hospital of Southwest Florida
Recruiting
Fort Myers, 33908 - Florida
Contact: Britt Stroud, MD (239-343-5437) - [email protected] - Molly Arnstrom ((239) 343-5437) - [email protected] - Britt Stroud, MD
United States
Nicklaus Children's Hospital
Recruiting
Miami, 33155 - Florida
Contact: Mari Vega (786-624-3516) - [email protected] - Paula Schleifer, MD
United States
Adventist Health System - Florida
Recruiting
Orlando, 32803 - Florida
Contact: Brooke Hartwell (407-303-2086) - [email protected] - Kihyeong Lee, MD
United States
Jackson South Medical Center
Recruiting
Palmetto Bay, 33157 - Florida
Contact: Paula Schleifer, MD (305-279-2226) - [email protected] - Paula Schleifer, MD
United States
Indiana University Health University Hospital (IUHUH)
Recruiting
Indianapolis, 46202 - Indiana
Contact: Marcia Felker, MD (317-948-7450) - [email protected] - Jill Mazurczyk ((317) 418-1060) - [email protected] - Marcia Felker, MD
United States
University of Iowa
Recruiting
Iowa City, 52242-1009 - Iowa
Contact: Chandra Miller (319-384-9618) - [email protected] - Carrie Stephan ((319) 356-2673) - [email protected] - Katherine Mathews, MD
United States
University of Kansas Medical Center
Recruiting
Kansas City, 66160 - Kansas
Contact: Rebecca Clay (913-588-1227) - [email protected] - Jeffrey Statland, MD
United States
University of Louisville
Recruiting
Louisville, 40202 - Kentucky
Contact: Lauren Evanczyk (502-588-3650) - [email protected] - Arpita Lakhotia, MD
United States
University of Minnesota
Recruiting
Minneapolis, 55455 - Minnesota
Contact: Natalya Alassy, MD (612-626-4690) - [email protected] - Peter Karachunski, MD
United States
University of Missouri Health System
Recruiting
Columbia, 65212 - Missouri
Contact: Anne Bonnett (573-884-6119) - [email protected] - Jane Emerson, MD
United States
Washington University School of Medicine in St. Louis
Recruiting
Saint Louis, 63110 - Missouri
Contact: Natalie Goedeker (314-362-4919) - [email protected] - Craig Zaidman, MD
United States
Atlantic Health System
Recruiting
Morristown, 07960 - New Jersey
Contact: Darius Adams, MD (518-262-5120) - [email protected] - Darius Adams, MD
United States
University of Rochester Medical Center
Recruiting
Rochester, 14642 - New York
Contact: Bohoon Lee (585-275-2776) - [email protected] - James Hilbert ((585) 273-5590) - [email protected] - Bohoon Lee, MD
United States
The State University of New York
Recruiting
Stony Brook, 11794 - New York
Contact: Christine Pol (631-444-9083) - [email protected] - Simona Treidler, MD
United States
Duke Health
Recruiting
Durham, 27705 - North Carolina
Contact: Karen Cornett (919-684-1143) - [email protected] - Edward Smith, MD
United States
Akron Children's Hospital
Recruiting
Akron, 44308-1062 - Ohio
Contact: Ian Rossman, MD, PhD (330-543-8050) - [email protected] - Ian Rossman, MD, PhD
United States
Cincinnati Children's Hospital Medical Center
Recruiting
Cincinnati, 45229-3026 - Ohio
Contact: Emily Hunsaker (513-636-5511) - [email protected] - Cuixia Tian, MD
United States
University Hospitals
Recruiting
Cleveland, 44106 - Ohio
Contact: Nancy Bass (216-444-3691) - [email protected] - Jerry Tribout ((216) 286-0228) - J[email protected] - Nancy Bass, MD
United States
Nationwide Children's Hospital
Recruiting
Columbus, 43205 - Ohio
Contact: Jessica Noel-Morgan (614-355-3428) - [email protected] - Megan Waldrop ((614) 722-2231) - [email protected] - Megan Waldrop, MD
United States
Oklahoma University Medical Center
Recruiting
Oklahoma City, 73104 - Oklahoma
Contact: Danielle DeMarzo, MD (405-271-8685) - [email protected] - Erin Coffman (405-271-8001) - [email protected] - Danielle DeMarzo, MD
United States
Oregon Health and Science University
Recruiting
Portland, 97239-3098 - Oregon
Contact: Bryn McCarthy (503-418-8297) - [email protected] - Erika Finanger, MD
United States
Penn State Hershey
Recruiting
Hershey, 17033 - Pennsylvania
Contact: Ellen Stoute (717-531-1260) - [email protected] - Ashutosh Kumar, MD ((717) 531-8790) - [email protected] -
United States
University of Pittsburgh Medical Center
Recruiting
Pittsburgh, 15224 - Pennsylvania
Contact: Casey Matthews (610-360-5342) - [email protected] - Hoda Abdel-Hamid, MD
United States
Prisma Health
Recruiting
Greenville, 29615 - South Carolina
Contact: Carrie Frost (864-454-5174) - [email protected] - Addie Hunnicutt ((864) 454-5110) - [email protected] - Addie Hunnicutt, MD
United States
Methodist Le Bonheur Healthcare
Recruiting
Memphis, 38103 - Tennessee
Contact: Farimah Salami (901-287-4509) - [email protected] - Elena Caron, MD
United States
Child Neurology Consultants of Austin
Recruiting
Austin, 78731 - Texas
Contact: Leyra Santiago (512-494-4000 ext: 265) - [email protected] - Jinfon Ong, MD
United States
Children's Health
Recruiting
Dallas, 75207 - Texas
Contact: Tammy Ramm (214-456-4426) - [email protected] - Leah Taylor ((214) 456-3686) - [email protected] - Susan Iannaccone, MD
United States
Cook Children's
Recruiting
Fort Worth, 76104 - Texas
Contact: Amanda Westbrook (682-885-6918) - [email protected] - Warren Marks, MD
United States
Texas Children's Hospital
Recruiting
Houston, 77030 - Texas
Contact: Steffy Jose (832-824-6646) - [email protected] - Timothy Lotze, MD
United States
CHRISTUS Health
Recruiting
San Antonio, 78207 - Texas
Contact: Melissa Svoboda, MD (210-704-4715) - [email protected] - Melissa Svoboda, MD
United States
University of Utah
Recruiting
Salt Lake City, 84113 - Utah
Contact: Sarah Moldt (801-585-9399) - [email protected] - Russell Butterfield, MD, PhD
United States
University of Virginia Health System
Recruiting
Charlottesville, 22908 - Virginia
Contact: Chelsea Masterson (434-297-5737) - [email protected] - Rebecca Scharf, MD
United States
Children's Hospital of The King's Daughters
Recruiting
Norfolk, 23507 - Virginia
Contact: Ashley Vasko (757-668-9991) - [email protected] - Crystal Proud, MD
United States
Virginia Commonwealth University Health System
Recruiting
Richmond, 23298 - Virginia
Contact: Ana Rosa Rezeq (804-828-1445) - [email protected] - Nicholas Johnson, MD
United States
Seattle Children's
Recruiting
Seattle, 98105 - Washington
Contact: Marissa Robertson (206-987-5457) - [email protected] - Leslie Vogel ((206) 987-3128) - [email protected] - Seth Perlman, MD
United States
MultiCare Health System
Recruiting
Tacoma, 98405 - Washington
Contact: Amber Brown (253-272-2350) - [email protected] - Anisha Schwarz, MD
United States
University of Wisconsin
Recruiting
Madison, 53792 - Wisconsin
Contact: Maggie Chilsen (608-263-2704) - [email protected] - Jennifer Kwon, MD
United States
Children's Hospital of Wisconsin
Recruiting
Milwaukee, 53226 - Wisconsin
Contact: Rupa Nallamothu (414-955-0685) - [email protected] - Rebecca Rehborg ((414) 805-8369) - [email protected] - Matthew Harmelink, MD
United States
Greece
University General Hospital Attikon
Recruiting
Chaïdári, 124 62 - Athens
Contact: Argyrios Dinopoulos, MD ((+30) 210 583 1000) - [email protected] - Argyrios Dinopoulos, MD
Greece
General Hospital of Thessaloniki Ippokrateio
Recruiting
Thessaloníki, 546 42
Contact: Dimitrios Zafeiriou, MD ((+30) 2310 99 29 63) - [email protected] - Dimitrios Zafeiriou, MD
Greece
Ireland
Children's University Hospital-UCD School of Medicine Scoil an Leighis
Recruiting
Dublin, 1 D01 XD99
Contact: Declan O Rourke, MD (+353 1 8784722) - [email protected] -
Ireland
Israel
Soroka Medical Centre
Recruiting
Be'er Sheva, 85025
Contact: Iris Noyman, MD (972-86245911) - [email protected] - Iris Noyman, MD
Israel
Wolfson Medical Center
Recruiting
Holon, 5822012
Contact: Mira Ginsberg, MD (972-3-5028936) - [email protected] - Mira Ginsberg, MD
Israel
Tel-Aviv Sourasky Medical Center
Recruiting
H̱olon, 582201
Contact: Aviva Fattal, MD (972-3-6974115) - [email protected] - Aviva Fattal, MD
Israel
Schneider- Children's Medical Center
Recruiting
Petah tikva, 4920235
Contact: Sharon Aharoni, MD (972-3-9253398) - [email protected] - Sharon Aharoni, MD
Israel
Korea, Republic of
Kyungpook National University Hospital
Recruiting
Daegu, 41944
Contact: Yunjeong Lee, MD - [email protected] - Yunjeong Lee, MD
Korea, Republic of
Seoul National University Bundang Hospital
Recruiting
Seongnam-si, 13620
Contact: Anna Cho, MD (+82-31-787-7301) - [email protected] - Anna Cho, MD
Korea, Republic of
Severance Hospital
Recruiting
Seoul, 03722
Contact: Hoonchul Kang, MD (02-2228-2050) - [email protected] - Hoonchul Kang, MD
Korea, Republic of
Pusan National University Yangsan Hospital
Recruiting
Yangsan, 50612
Contact: Yunjin Lee, MD (+82-55-360-2180) - [email protected] - Yunjin Lee, MD
Korea, Republic of
Portugal
Centro Hospitalar Universitario Lisboa Norte, EPE
Recruiting
Lisboa, 1649-035
Contact: Teresa Moreno, MD ((+351) 915 668 130) - [email protected] - Joana Coelho, MD ((+351) 965 560 339) - [email protected] - Teresa Moreno, MD
Portugal
Russian Federation
Almazov National Medical Research Centre
Recruiting
Saint Petersburg, 197341
Contact: Natalia Petrova, MD (+7 921 799 99 55) - [email protected] - Natalia Petrova, md
Russian Federation
Taiwan
Kaohsiung Medical University Chung-Ho Memorial Hospital
Recruiting
Kaohsiung city, 80756
Contact: Yuh-Jyh Jong, MD (+886-7-312-1101 ext: 6507) - [email protected] - Yuh-Jyh Jong, MD
Taiwan

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