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

study id #: NCT04174157

condition: Spinal Muscular Atrophy (SMA)

status: Recruiting

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.

intervention: Prospective observational registry, Zolgensma

results: https://clinicaltrials.gov/ct2/show/results/NCT04174157

last updated: January 13, 2022

start date: September 25, 2018

estimated completion: June 30, 2038

last updated: October 14, 2021

size / enrollment: 500

study 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.

primary outcomes:

• 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.
  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
  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
  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
  Incidence of treatment emergent adverse events
  
• Through 15 years of follow up
  Incidence of treatment emergent serious adverse events
  
• Through 15 years of follow up
  Incidence of treatment emergent adverse events related to therapy
  
• Through 15 years of follow up
  Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events
  
• Through 15 years of follow up
  

secondary outcomes:

• 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 Zarit Burden Interview
  Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
• 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
• 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
• 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 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
• 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

inclusion criteria:

exclusion criteria: 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.

sponsor: AveXis, Inc.

contacts: Novartis Gene Therapies Medinfo, 1-833-828-3947, medinfo.gtx@novartis.com

investigators: Omar Dabbous,Novartis Gene Therapies

trial center locations: United States,Ireland,Israel,Portugal

• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Callie Arnold, Callie.Arnold@AdventHealth.com
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Teresa Moreno, MD, (+351) 915 668 130, ped.ensaioscaml@gmail.com
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Declan O Rourke, MD, +353 1 8784722, declan.orourke@cuh.ie
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Catherine Tsao, 203-785-4390, catherine.tsao@yale.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Marissa Robertson, 206-987-5457, Marissa.Robertson@seattlechildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Melissa Svoboda, MD, 210-704-4715, melissa.svoboda@bcm.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Tammy Ramm, 214-456-4426, Tammy.Ramm@UTSouthwestern.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Nancy Bass, 216-444-3691, Nancy.bass@uhhospitals.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Britt Stroud, MD, 239-343-5437, britt.stroud@leehealth.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Anisha Schwarz, MD, 253-792-6630, acschwarz@multicare.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Paula Schleifer, MD, 305-279-2226, pschleifer@fcneurology.net
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Paula Schleifer, MD, 305-279-2226, pschleifer@fcneurology.net
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Huynh Jennifer, 310-825-3564, JenniferH@mednet.ucla.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Natalie Goedeker, 314-362-4919, ngoedeker@wustl.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Marcia Felker, MD, 317-948-7450, mamccann@iupui.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Chandra Miller, 319-384-9618, Chandra-miller@uiowa.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Martha Arellano-Garcia, 323-361-5812, margarcia@chla.usc.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Danielle Rogers, 330-543-5727, DRogers@akronchildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Danielle DeMarzo, MD, 405-271-8685, danielle-demarzo@ouhsc.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Hoda Abdel-Hamid, MD, 412-692-6106, hoda.abdel-hamid@chp.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Rupa Nallamothu, 414-955-0685, rnallamothu@mcw.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Rebecca Scharf, MD, 434-982-1058, rs3yk@virginia.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Kapil Arya, 501-364-1850, karya@uams.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Jen Comings, 502-588-0697, jennifer.comings@louisville.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Bryn McCarthy, 503-418-8297, McCarbry@ohsu.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Meeta Cardon, MD, 512-494-4000, MCardon@ChildNeuroTX.com
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Emily Hunsaker, 513-636-5511, emily.hunsaker@cchmc.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Amanda Fernandez, MD, 559-353-6215, afernandez@choc.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Raymund David, MD, 559-718-6929, RDavid@valleychildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Natalie Taylor, 573-884-4862, taylornat@health.missouri.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Bohoon Lee, 585-275-2776, Bohoon_Lee@URMC.Rochester.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Nakia Croft, 602-933-0641, ncroft@phoenixchildrens.com
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Maggie Chilsen, 608-263-2704, mchilsen@clinicaltrials.wisc.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Natalya Alassy, MD, 612-626-4690, burla019@umn.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Jessica Noel-Morgan, 614-355-3428, Jessica.Noel-Morgan@nationwidechildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Christine Pol, 631-444-9083, Christiana.Pol@stonybrookmedicine.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Amanda Westbrook, 682-885-6918, Amanda.Westbrook@cookchildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Ellen Stoute, 717-531-1260, estoute@pennstatehealth.psu.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Galen Resler, 720-777-0738, galen.resler@childrenscolorado.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Ashley Vasko, 757-668-9991, Ashley.vasko@chkd.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Sarah Moldt, 801-585-9399, sarah.moldt@hsc.utah.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Ana Rosa Rezeq, 804-828-1445, Anarosa.rezeq@vcuhealth.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Steffy Jose, 832-824-6646, Steffy.Jose@bcm.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Chamindra Konersman, MD, 858-966-5819, ckonersman@health.ucsd.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Hendriana Nielsen, 860-837-5881, HNielsen@connecticutchildrens.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Carrie Frost, 864-454-5174, cfrost@ghs.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Tracee Ridley-Pryor, 901-287-5338, tracee.ridley-pryor@lebonheur.org
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  David Michelson, MD, 909-558-5830, dmichels@llu.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Rebecca Clay, 913-588-1227, rclay@kumc.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Rachel (Ja Yoon) Baek, 916-734-2439, jrbaek@ucdavis.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Karen Cornett, 919-684-1143, k.cornett@duke.edu
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Mira Ginsberg, MD, 972-3-5028936, miraginsberg@gmail.com
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Sharon Aharoni, MD, 972-3-9253398, Sharonah@clalit.org.il
  
  
• Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
  Jahannaz Dastgir, MD, 973-971-5700, Jahannaz.Dastgir@atlantichealth.org