Long-term registry following people with spinal muscular atrophy and their treatment outcomes
Follows people with spinal muscular atrophy over time, including those given Zolgensma.
Plain-language title generated from the registry record
Registry title: Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Key facts
- Where
- Akron, Aurora, Austin, Charlottesville, Cincinnati, Cleveland, Columbia, Columbus, Dallas, Durham, Farmington, Fort Myers, Fort Worth, Greenville, Hershey, Houston, Indianapolis, Iowa City, Kansas City, Little Rock, Loma Linda, Los Angeles, Louisville, Madera, Madison, Memphis, Miami, Milwaukee, Minneapolis, Morristown, New Haven, Norfolk, Oklahoma City, Orlando, Palmetto Bay, Phoenix, Pittsburgh, Portland, Richmond, Rochester, Sacramento, Salt Lake City, San Antonio, San Diego, Seattle, St Louis, Stony Brook, and Tacoma, United StatesSee the 50 sites
Where in United States
- Akron Children's HospitalAkron, United StatesNo longer taking part
- Children's Hospital ColoradoAurora, United StatesTaking people
- Child Neurology Consultants of AustinAustin, United StatesNo longer taking part
- University of Virginia Health SystemCharlottesville, United StatesTaking people
- Cincinnati Children's Hospital Medical CenterCincinnati, United StatesTaking people
- University HospitalsCleveland, United StatesNo longer taking part
- University of Missouri Health SystemColumbia, United StatesTaking people
- Nationwide Children's HospitalColumbus, United StatesTaking people
- Children's HealthDallas, United StatesNo longer taking part
- Duke HealthDurham, United StatesTaking people
- Connecticut Children's Medical CenterFarmington, United StatesTaking people
- Golisano Children's Hospital of Southwest FloridaFort Myers, United StatesTaking people
- Cook Children'sFort Worth, United StatesTaking people
- Prisma HealthGreenville, United StatesTaking people
- Penn State HersheyHershey, United StatesTaking people
- Texas Children's HospitalHouston, United StatesTaking people
- Indiana University Health University Hospital (IUHUH)Indianapolis, United StatesTaking people
- University of IowaIowa City, United StatesTaking people
- University of Kansas Medical CenterKansas City, United StatesTaking people
- Arkansas Children's HospitalLittle Rock, United StatesTaking people
- Loma Linda University HealthLoma Linda, United StatesNo longer taking part
- Children's Hospital of Los AngelesLos Angeles, United StatesTaking people
- University of California Los Angeles HealthLos Angeles, United StatesTaking people
- University of LouisvilleLouisville, United StatesTaking people
- Children's Hospital of Orange CountyMadera, United StatesTaking people
- Valley Children's HealthcareMadera, United StatesTaking people
- University of WisconsinMadison, United StatesTaking people
- Methodist Le Bonheur HealthcareMemphis, United StatesTaking people
- Nicklaus Children's HospitalMiami, United StatesNo longer taking part
- Children's Hospital of WisconsinMilwaukee, United StatesTaking people
- University of MinnesotaMinneapolis, United StatesTaking people
- Atlantic Health SystemMorristown, United StatesTaking people
- Yale-New Haven Health SystemNew Haven, United StatesTaking people
- Children's Hospital of The King's DaughtersNorfolk, United StatesTaking people
- Oklahoma University Medical CenterOklahoma City, United StatesNo longer taking part
- Adventist Health System - FloridaOrlando, United StatesNo longer taking part
- Jackson South Medical CenterPalmetto Bay, United StatesTaking people
- Phoenix Children s HospitalPhoenix, United StatesTaking people
- University of Pittsburgh Medical CenterPittsburgh, United StatesTaking people
- Oregon Health and Science UniversityPortland, United StatesTaking people
- Virginia Commonwealth University Health SystemRichmond, United StatesTaking people
- University of Rochester Medical CenterRochester, United StatesTaking people
- University of California Davis Health SystemSacramento, United StatesTaking people
- University of UtahSalt Lake City, United StatesTaking people
- CHRISTUS HealthSan Antonio, United StatesTaking people
- Rady Children's Hospital - San DiegoSan Diego, United StatesTaking people
- Seattle Children'sSeattle, United StatesTaking people
- Washington University School of Medicine in St. LouisSt Louis, United StatesTaking people
- The State University of New YorkStony Brook, United StatesTaking people
- MultiCare Health SystemTacoma, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Novartis Pharmaceuticals
- Trial code
- NCT04174157
- Record updated
- 31 January 2025
- Original 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.Read full original descriptionShow less
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.
Inclusion: 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: 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.