Spinal Muscular Atrophy (SMA) Clinical Trial
Official title:
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. 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.
Status | Recruiting |
Enrollment | 500 |
Est. completion date | June 30, 2038 |
Est. primary completion date | June 30, 2038 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
Greece | University General Hospital Attikon | Chaïdári | Athens |
Greece | General Hospital of Thessaloniki Ippokrateio | Thessaloníki | |
Ireland | Children's University Hospital-UCD School of Medicine Scoil an Leighis | Dublin | |
Israel | Soroka Medical Centre | Be'er Sheva | |
Israel | Tel-Aviv Sourasky Medical Center | H_olon | |
Israel | Wolfson Medical Center | Holon | |
Israel | Schneider- Children's Medical Center | Petah tikva | |
Japan | Chiba children's Hospital | Chiba-shi | Chiba |
Japan | Fukui Prefectural Hospital | Fukui | |
Japan | Gifu Prefectural General Medical Center | Gifu-shi | Gifu |
Japan | Hamamatsu University School of Medicine, University Hospital | Hamamatsu-shi | Shizuoka |
Japan | Obihiro Kosei Hospital | Hokkaido | Obihiro-shi |
Japan | Kagawa University Hospital | Kita-gun | Kagawa |
Japan | Kumamoto University Hospital | Kumamoto-shi | Kumamoto |
Japan | Kurume University Hospital | Kurume-shi | Fukuoka |
Japan | Shiga Medical Center for Children | Moriyama-shi | Shiga |
Japan | Aichi Medical University Hospital | Nagakute-shi | Aichi |
Japan | Sapporo Medical University Hospital | Sapporo-shi | Hokkaido |
Japan | Miyagi Children's Hospital | Sendai-shi | Miyagi |
Japan | Jichi Medical University Hospital | Shimotsuke-shi | Tochigi |
Japan | Center Hospital of the National Center for Global Health and Medicine | Shinjuku-ku | Tokyo |
Japan | Tokyo Medical University Hospital | Shinjuku-ku | Tokyo |
Japan | Fujita Health University Hospital | Toyoake-shi | Aichi |
Japan | Kanagawa Children's Medical Center | Yokohama-shi | Kanagawa |
Korea, Republic of | 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 | |
Portugal | Centro Hospitalar Universitario Lisboa Norte, EPE | Lisboa | |
Russian Federation | Almazov National Medical Research Centre | Saint Petersburg | |
Taiwan | Kaohsiung Medical University Chung-Ho Memorial Hospital | Kaohsiung city | |
United States | Akron Children's Hospital | Akron | Ohio |
United States | Children's Hospital Colorado | Aurora | Colorado |
United States | Child Neurology Consultants of Austin | Austin | Texas |
United States | University of Virginia Health System | Charlottesville | Virginia |
United States | Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio |
United States | University Hospitals | Cleveland | Ohio |
United States | University of Missouri Health System | Columbia | Missouri |
United States | Nationwide Children's Hospital | Columbus | Ohio |
United States | Children's Health | Dallas | Texas |
United States | Duke Health | Durham | North Carolina |
United States | Connecticut Children's Medical Center | Farmington | Connecticut |
United States | Golisano Children's Hospital of Southwest Florida | Fort Myers | Florida |
United States | Cook Children's | Fort Worth | Texas |
United States | Prisma Health | Greenville | South Carolina |
United States | Penn State Hershey | Hershey | Pennsylvania |
United States | Texas Children's Hospital | Houston | Texas |
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 | 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 | University of Louisville | Louisville | Kentucky |
United States | Children's Hospital of Orange County | Madera | California |
United States | Valley Children's Healthcare | Madera | California |
United States | University of Wisconsin | Madison | Wisconsin |
United States | Methodist Le Bonheur Healthcare | Memphis | Tennessee |
United States | Nicklaus Children's Hospital | Miami | Florida |
United States | Children's Hospital of Wisconsin | Milwaukee | Wisconsin |
United States | University of Minnesota | Minneapolis | Minnesota |
United States | Atlantic Health System | Morristown | New Jersey |
United States | Yale-New Haven Health System | New Haven | Connecticut |
United States | Children's Hospital of The King's Daughters | Norfolk | Virginia |
United States | Oklahoma University Medical Center | Oklahoma City | Oklahoma |
United States | Adventist Health System - Florida | Orlando | Florida |
United States | Jackson South Medical Center | Palmetto Bay | Florida |
United States | Phoenix Children's Hospital | Phoenix | Arizona |
United States | University of Pittsburgh Medical Center | Pittsburgh | Pennsylvania |
United States | Oregon Health and Science University | Portland | Oregon |
United States | Virginia Commonwealth University Health System | Richmond | Virginia |
United States | University of Rochester Medical Center | Rochester | New York |
United States | University of California Davis Health System | Sacramento | California |
United States | Washington University School of Medicine in St. Louis | Saint Louis | Missouri |
United States | University of Utah | Salt Lake City | Utah |
United States | CHRISTUS Health | San Antonio | Texas |
United States | Rady Children's Hospital San Diego | San Diego | California |
United States | Seattle Children's | Seattle | Washington |
United States | The State University of New York | Stony Brook | New York |
United States | MultiCare Health System | Tacoma | Washington |
Lead Sponsor | Collaborator |
---|---|
AveXis, Inc. | United BioSource, LLC |
United States, Greece, Ireland, Israel, Japan, Korea, Republic of, Portugal, Russian Federation, Taiwan,
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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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. | ||
Primary | Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA | CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function | Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up | |
Primary | Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA | HINE score range from 0 to 26 with higher scores indicating more development. | Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up | |
Primary | Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA | HFMSE score range from 0 to 66 with the higher scores indicating more development. | Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up | |
Primary | Incidence of treatment emergent adverse events | Through 15 years of follow up | ||
Primary | Incidence of treatment emergent serious adverse events | Through 15 years of follow up | ||
Primary | Incidence of treatment emergent adverse events related to therapy | Through 15 years of follow up | ||
Primary | Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events | Through 15 years of follow up | ||
Secondary | 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 | ||
Secondary | Change from baseline in Zarit Burden Interview | Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden. | Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up | |
Secondary | Change from baseline in PedsQL Patient interview | 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 | Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up | |
Secondary | Change from baseline in PedsQL Parent interview | 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 | Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up | |
Secondary | 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 | ||
Secondary | 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 | ||
Secondary | 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 |
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