Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
- Conditions
- Spinal Muscular Atrophy (SMA)
- Interventions
- Other: Prospective observational registryDrug: Zolgensma
- Registration Number
- NCT04174157
- Lead Sponsor
- Novartis Pharmaceuticals
- 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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 500
- 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
- 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
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Prospective observational registry Prospective observational registry This is a prospective, multi center, multinational, non-interventional observational registry. Prospective observational registry Zolgensma This is a prospective, multi center, multinational, non-interventional observational registry.
- Primary Outcome Measures
Name Time Method Incidence of treatment emergent serious adverse events Through 15 years of follow up Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up. Incidence of treatment emergent adverse events Through 15 years of follow up Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up HFMSE score range from 0 to 66 with the higher scores indicating more development.
Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events Through 15 years of follow up Incidence of treatment emergent adverse events related to therapy 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 Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up HINE score range from 0 to 26 with higher scores indicating more development.
- Secondary Outcome Measures
Name Time Method Change from baseline in Zarit Burden Interview Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden.
Change from baseline in PedsQL Patient interview Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life
Change from baseline in PedsQL Parent interview Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life
Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube) : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up Change from baseline in rates of hospitalization Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up Change from baseline in in percent of patients requiring mobility device support (Ankle-Foot Orthoses, Supramalleolar Orthosis, Orthotic/shoe inserts, Knee immobilizers, Knee-Ankle-Foot Orthoses , Hand splints, Spinal bracing) : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up Change from baseline in in percent of patients requiring nutritional support (Gastrostomy Tube, Gastrojejunal tube (GT) with Nissen fundoplication, GT without Nissen fundoplication, Nasogastrictube, Nasojejunaltube or Percutaneous endoscopic gastrostomy) Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Trial Locations
- Locations (99)
Penteli Children's Hospital
🇬🇷Penteli, Attikis, Greece
St. Sophia Children's Hospital
🇬🇷Thessaloniki, Greece
Nikko Memorial Hospital
🇯🇵Hokkaido, Japan
Dokkyo Medical University Saitama Medical Center
🇯🇵Saitama, Japan
Seoul National University Children's Hospital
🇰🇷Seoul, Korea, Republic of
Samsung Medical Centre
🇰🇷Seoul, Korea, Republic of
Yongin Severance Hospital
🇰🇷Yongin-si, Korea, Republic of
Uniwersytecki Szpital Dzieciec
🇵🇱Lublin, Poland
CHUC - Hospital Pediatrico
🇵🇹Coimbra, Portugal
Centro Hospitalar Universitaria de Lisboa Central, EPE
🇵🇹Lisboa, Portugal
Centro Hospitalar Universitario de Porto, EPE
🇵🇹Porto, Portugal
Centro Hospitalar Universitario de Sao Joao, EPE
🇵🇹Porto, Portugal
Centrul de Recuperare pentru Copii dr. Nicolae Robanescu
🇷🇴Bucharest, Romania
Spitalul Clinic de Psihiatrie
🇷🇴Bucharest, Romania
China Medical University Hospital
🇨🇳Taichung, Taiwan
National Taiwan University Hospital
🇨🇳Taipei, Taiwan
Taipei Veterans General Hospital
🇨🇳Taipei, Taiwan
Chang Gung Memorial Hospital Linkou Branch
🇨🇳Taoyuan, Taiwan
Phoenix Children's Hospital
🇺🇸Phoenix, Arizona, United States
Arkansas Children's Hospital
🇺🇸Little Rock, Arkansas, United States
Loma Linda University Health
🇺🇸Loma Linda, California, United States
Children's Hospital of Los Angeles
🇺🇸Los Angeles, California, United States
University of California Los Angeles Health
🇺🇸Los Angeles, California, United States
Valley Children's Healthcare
🇺🇸Madera, California, United States
Children's Hospital of Orange County
🇺🇸Madera, California, United States
University of California Davis Health System
🇺🇸Sacramento, California, United States
Rady Children's Hospital San Diego
🇺🇸San Diego, California, United States
Children's Hospital Colorado
🇺🇸Aurora, Colorado, United States
Connecticut Children's Medical Center
🇺🇸Farmington, Connecticut, United States
Yale-New Haven Health System
🇺🇸New Haven, Connecticut, United States
Golisano Children's Hospital of Southwest Florida
🇺🇸Fort Myers, Florida, United States
Nicklaus Children's Hospital
🇺🇸Miami, Florida, United States
Adventist Health System - Florida
🇺🇸Orlando, Florida, United States
Jackson South Medical Center
🇺🇸Palmetto Bay, Florida, United States
University of Louisville
🇺🇸Louisville, Kentucky, United States
University of Minnesota
🇺🇸Minneapolis, Minnesota, United States
Indiana University Health University Hospital (IUHUH)
🇺🇸Indianapolis, Indiana, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
University of Kansas Medical Center
🇺🇸Kansas City, Kansas, United States
Washington University School of Medicine in St. Louis
🇺🇸Saint Louis, Missouri, United States
University of Missouri Health System
🇺🇸Columbia, Missouri, United States
Atlantic Health System
🇺🇸Morristown, New Jersey, United States
University of Rochester Medical Center
🇺🇸Rochester, New York, United States
The State University of New York
🇺🇸Stony Brook, New York, United States
Duke Health
🇺🇸Durham, North Carolina, United States
Akron Children's Hospital
🇺🇸Akron, Ohio, United States
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
University Hospitals
🇺🇸Cleveland, Ohio, United States
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Oklahoma University Medical Center
🇺🇸Oklahoma City, Oklahoma, United States
Oregon Health and Science University
🇺🇸Portland, Oregon, United States
Penn State Hershey
🇺🇸Hershey, Pennsylvania, United States
University of Pittsburgh Medical Center
🇺🇸Pittsburgh, Pennsylvania, United States
Prisma Health
🇺🇸Greenville, South Carolina, United States
Methodist Le Bonheur Healthcare
🇺🇸Memphis, Tennessee, United States
Child Neurology Consultants of Austin
🇺🇸Austin, Texas, United States
Children's Health
🇺🇸Dallas, Texas, United States
Cook Children's
🇺🇸Fort Worth, Texas, United States
Texas Children's Hospital
🇺🇸Houston, Texas, United States
CHRISTUS Health
🇺🇸San Antonio, Texas, United States
Children's Hospital of The King's Daughters
🇺🇸Norfolk, Virginia, United States
Seattle Children's
🇺🇸Seattle, Washington, United States
University of Utah
🇺🇸Salt Lake City, Utah, United States
University of Virginia Health System
🇺🇸Charlottesville, Virginia, United States
Virginia Commonwealth University Health System
🇺🇸Richmond, Virginia, United States
MultiCare Health System
🇺🇸Tacoma, Washington, United States
University of Wisconsin
🇺🇸Madison, Wisconsin, United States
Children's Hospital of Wisconsin
🇺🇸Milwaukee, Wisconsin, United States
University General Hospital Attikon
🇬🇷Chaïdári, Athens, Greece
General Hospital of Thessaloniki Ippokrateio
🇬🇷ThessalonÃki, Greece
Children's University Hospital-UCD School of Medicine Scoil an Leighis
🇮🇪Dublin, Ireland
Soroka Medical Centre
🇮🇱Be'er Sheva, Israel
Wolfson Medical Center
🇮🇱Holon, Israel
Tel-Aviv Sourasky Medical Center
🇮🇱H̱olon, Israel
Schneider- Children's Medical Center
🇮🇱Petah tikva, Israel
Aichi Medical University Hospital
🇯🇵Nagakute-shi, Aichi, Japan
Fujita Health University Hospital
🇯🇵Toyoake-shi, Aichi, Japan
Chiba children's Hospital
🇯🇵Chiba-shi, Chiba, Japan
Kurume University Hospital
🇯🇵Kurume-shi, Fukuoka, Japan
Gifu Prefectural General Medical Center
🇯🇵Gifu-shi, Gifu, Japan
Sapporo Medical University Hospital
🇯🇵Sapporo-shi, Hokkaido, Japan
Kagawa University Hospital
🇯🇵Kita-gun, Kagawa, Japan
Kanagawa Children's Medical Center
🇯🇵Yokohama-shi, Kanagawa, Japan
Kumamoto University Hospital
🇯🇵Kumamoto-shi, Kumamoto, Japan
Miyagi Children's Hospital
🇯🇵Sendai-shi, Miyagi, Japan
Obihiro Kosei Hospital
🇯🇵Hokkaido, Obihiro-shi, Japan
Shiga Medical Center for Children
🇯🇵Moriyama-shi, Shiga, Japan
Hamamatsu University School of Medicine, University Hospital
🇯🇵Hamamatsu-shi, Shizuoka, Japan
Jichi Medical University Hospital
🇯🇵Shimotsuke-shi, Tochigi, Japan
Tokyo Medical University Hospital
🇯🇵Shinjuku-ku, Tokyo, Japan
Center Hospital of the National Center for Global Health and Medicine
🇯🇵Shinjuku-ku, Tokyo, Japan
Fukui Prefectural Hospital
🇯🇵Fukui, Japan
Kyungpook National University Hospital
🇰🇷Daegu, Korea, Republic of
Seoul National University Bundang Hospital
🇰🇷Seongnam-si, Korea, Republic of
Severance Hospital
🇰🇷Seoul, Korea, Republic of
Pusan National University Yangsan Hospital
🇰🇷Yangsan, Korea, Republic of
Centro Hospitalar Universitario Lisboa Norte, EPE
🇵🇹Lisboa, Portugal
Almazov National Medical Research Centre
🇷🇺Saint Petersburg, Russian Federation
Kaohsiung Medical University Chung-Ho Memorial Hospital
🇨🇳Kaohsiung city, Taiwan