Last Update: Jan 31, 2025 A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA) ClinicalTrials.gov Identifier: [NCT04174157](https://clinicaltrials.gov/ct2/show/NCT04174157) Novartis Reference Number:COAV101A12001 [See if you Pre-qualify](#trial-eligibility "See if you Pre-qualify") 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. 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. 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. Condition Spinal Muscular Atrophy (SMA) Overall Status Recruiting Number of Participants700 Start Date Sep 25, 2018 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 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 Criteria: \\- 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. Greece #### University General Hospital Attikon Recruiting Chaïdári,Athens,124 62,Greece ###### Argyrios Dinopoulos, MD Phone: [+30 210 583 1000]() Email: ###### Argyrios Dinopoulos, MD #### St. Sophia Children's Hospital Recruiting Thessaloniki,115 27,Greece ###### Maria Roser-Pons, MD, MD ###### Maria Roser-Pons, MD Phone: [+30 213 201 3000]() Email: #### Penteli Children's Hospital Recruiting Pentéli,Attikis,152 36,Greece ###### Chrysanthi Tsimakidi Phone: [+30 213 205 2200]() Email: ###### Chrysanthi Tsimakidi #### General Hospital of Thessaloniki Ippokrateio Recruiting Thessaloniki,546 42,Greece ###### Dimitrios Zafeiriou, MD Phone: [+30 2310 99 29 63]() Email: ###### Dimitrios Zafeiriou, MD Ireland #### Children's University Hospital-UCD School of Medicine Scoil an Leighis Recruiting Dublin,1 d01 xd99,Ireland ###### Declan O Rourke, MD Phone: [+353 1 8784722]() Email: Israel #### Wolfson Medical Center Recruiting Holon,5822012,Israel ###### Mira Ginsberg, MD Phone: [972-3-5028936](tel:972-3-5028936) Email: ###### Mira Ginsberg, MD #### Soroka Medical Centre Recruiting Beersheba,85025,Israel ###### Iris Noyman, MD Phone: [972-86245911](tel:972-86245911) Email: ###### Iris Noyman, MD #### Tel-Aviv Sourasky Medical Center Recruiting Holon,582201,Israel ###### Aviva Fattal, MD Phone: [972-3-6974115](tel:972-3-6974115) Email: ###### Aviva Fattal, MD #### Schneider- Children's Medical Center Recruiting Petah Tikva,4920235,Israel ###### Sharon Aharoni, MD ###### Sharon Aharoni, MD Phone: [972-3-9253398](tel:972-3-9253398) Email: Poland #### Uniwersytecki Szpital Dzieciec Recruiting Lublin,20-093,Poland ###### Magdalena Chroscinska-Krawczyk, MD Phone: [(+48) 669 487 491]() Email: ###### Magdalena Chroscinska-Krawczyk, MD Portugal #### CHUC - Hospital Pediatrico Recruiting Coimbra,300-6020,Portugal ###### Joana Ribeiro, MD Phone: [(+351) 239 800 100]() Email: <10675@chuc.min-saude.pt> ###### Joana Ribeiro, MD #### Centro Hospitalar Universitario de Porto, EPE Recruiting Porto,4050-371,Portugal ###### Cristina Garrido, MD Phone: [(+351) 222 077 500]() Email: ###### Cristina Garrido, MD #### Centro Hospitalar Universitario de Sao Joao, EPE Recruiting Porto,4200-319,Portugal ###### Raquel Carvalho Sousa, MD Phone: [(+351) 225 512 100]() Email: ###### Raquel Carvalho Sousa #### Centro Hospitalar Universitaria de Lisboa Central, EPE Recruiting Lisbon,1169-045,Portugal ###### Jose Pedro Vieira, MD Phone: [(+351) 213 126 944]() Email: ###### Jose Pedro Vieira, MD #### Centro Hospitalar Universitario Lisboa Norte, EPE Recruiting Lisbon,1649-035,Portugal ###### Joana Coelho, MD Phone: [(+351) 965 560 339]() Email: ###### Teresa Moreno, MD Phone: [(+351) 915 668 130]() Email: ###### Teresa Moreno, MD Romania #### Centrul de Recuperare pentru Copii dr. Nicolae Robanescu Recruiting Bucharest,041408,Romania ###### Madalina Cristina Leanca, MD Phone: [(+40) 726 274 907]() Email: ###### Madalina Cristina Leanca #### Spitalul Clinic de Psihiatrie Recruiting Bucharest,041914,Romania ###### Loana Minciu, MD Phone: [(+40) 722 548 137]() Email: ###### Loana Minciu Russia #### Almazov National Medical Research Centre Recruiting Saint Petersburg,197341,Russia ###### Natalia Petrova, MD Phone: [+79110090808](tel:+79110090808) Email: ###### Natalia Petrova, md South Korea #### Kyungpook National University Hospital Recruiting Daegu,41944,South Korea ###### Jeong Jin Yun, SC Phone: [+82-10-7942-7673](tel:+82-10-7942-7673) Email: ###### Yunjeong Lee, MD #### Seoul National University Bundang Hospital Recruiting Seongnam-si,13620,South Korea ###### Anna Cho, MD Phone: [+82-31-787-7301](tel:+82-31-787-7301) Email: ###### Anna Cho, MD #### Seoul National University Children's Hospital Recruiting Seoul,03080,South Korea ###### Jong Hee Chae ###### MD ###### Miae Kim, SC Phone: [+82-2-6072-5185](tel:+82-2-6072-5185) Email: #### Severance Hospital Recruiting Seoul,03722,South Korea ###### Hoonchul Kang, MD Phone: [02-2228-2050](tel:02-2228-2050) Email: ###### Hoonchul Kang, MD #### Samsung Medical Centre Recruiting Seoul,06351,South Korea ###### Jiwon Lee ###### Min Jeong Kim, SC Phone: [+82-2-2148-7606](tel:+82-2-2148-7606) Email: #### Pusan National University Yangsan Hospital Recruiting Yangsan,50612,South Korea ###### Yunjin Lee, MD Phone: [+82-55-360-2180](tel:+82-55-360-2180) Email: ###### Yunjin Lee, MD #### Yongin Severance Hospital Recruiting Yongin-si,16995,South Korea ###### Haneul Lee ###### Lae-song Noh, SC Phone: [+82-10-4061-2483](tel:+82-10-4061-2483) Email: Taiwan #### China Medical University Hospital Recruiting Taichung,404327,Taiwan Phone: [+886- 4-22052121]() Email: <004009@tool.caaumed.org.tw> ###### I-Ching Chou, MD Phone: [+886- 4-22052121]() Email: <004009@tool.caaumed.org.tw> ###### I-Ching Chou #### National Taiwan University Hospital Recruiting Taipei,100229,Taiwan ###### Yin-Hsiu CHIEN, MD Phone: [+886-2-23123456 #271937]() Email: ###### Yin-Hsiu CHIEN, MD #### Taipei Veterans General Hospital Recruiting Taipei,11217,Taiwan ###### Dau-Ming NIU, MD Phone: [+886-2-28712121 #8486]() Email: ###### Dau-Ming NIU #### Kaohsiung Medical University Chung-Ho Memorial Hospital Recruiting Kaohsiung City,80756,Taiwan ###### Yuh-Jyh Jong, MD ###### Yuh-Jyh Jong, MD Phone: [+886-7-312-1101](tel:+886-7-312-1101) Email: #### Chang Gung Memorial Hospital Linkou Branch Recruiting Taoyuan,333,Taiwan ###### I-Jun CHOU, MD Phone: [+886-3-328-1200 #7865]() Email: ###### I-Jun CHOU, MD United States #### Phoenix Children's Hospital Recruiting Phoenix,Arizona,85016,United States ###### Alison Lane Phone: [602-933-0885](tel:602-933-0885) Email: ###### Saunder Bernes, MD #### Arkansas Children's Hospital Recruiting Little Rock,Arkansas,72202,United States ###### Kapil Arya, MD ###### Kapil Arya Phone: [501-364-1850](tel:501-364-1850) Email: #### Children's Hospital of Los Angeles Recruiting Los Angeles,California,90027,United States ###### Claudia Dozal Phone: [(323) 361-5825]() Email: ###### Leigh Maria Ramos-Platt, MD ###### Martha Arellano-Garcia Phone: [323-361-5812](tel:323-361-5812) Email: #### University of California Los Angeles Health Recruiting Los Angeles,California,90095,United States ###### Huynh Jennifer Phone: [310-825-3564](tel:310-825-3564) Email: ###### Perry Shieh, MD, PhD #### Valley Children's Healthcare Recruiting Madera,California,93636,United States ###### Raymund David, MD ###### Raymund David, MD Phone: [559-353-6215](tel:559-353-6215) Email: #### Children's Hospital of Orange County Recruiting Madera,California,93638,United States ###### Amanda Fernandez, MD Phone: [559-353-6215](tel:559-353-6215) Email: ###### Amanda Fernandez, MD ###### Linda Do Phone: [(714) 696-2665]() Email: #### University of California Davis Health System Recruiting Sacramento,California,95817,United States ###### Nanette Joyce, DO ###### Rachel (Ja Yoon) Baek Phone: [916-734-2439](tel:916-734-2439) Email: #### Rady Children's Hospital San Diego Recruiting San Diego,California,92123,United States ###### Chamindra Konersman, MD Phone: [858-966-5819](tel:858-966-5819) Email: ###### Chamindra Konersman, MD ###### Napat Intarachumnum Phone: [858-576-1700](tel:858-576-1700) Email: #### Children's Hospital Colorado Recruiting Aurora,Colorado,80045,United States ###### Julie Parsons, MD ###### Margaret Finlay Phone: [720-777-1234](tel:720-777-1234) Email: #### Connecticut Children's Medical Center Recruiting Farmington,Connecticut,06034,United States ###### Gyula Acsadi, MD, PhD ###### Hendriana Nielsen Phone: [860-837-5881](tel:860-837-5881) Email: ###### James Santanelli Phone: [(860) 837-5873]() Email: #### Yale-New Haven Health System Recruiting New Haven,Connecticut,06510,United States ###### Catherine Tsao Phone: [203-785-4390](tel:203-785-4390) Email: ###### Cristian Ionita, MD #### Golisano Children's Hospital of Southwest Florida Recruiting Fort Myers,Florida,33908,United States ###### Britt Stroud, MD Phone: [239-343-5437](tel:239-343-5437) Email: ###### Britt Stroud, MD ###### Molly Arnstrom Phone: [(239) 343-5437]() Email: #### Jackson South Medical Center Recruiting Palmetto Bay,Florida,33157,United States ###### Paula Schleifer, MD ###### Paula Schleifer, MD Phone: [305-279-2226](tel:305-279-2226) Email: #### Indiana University Health University Hospital (IUHUH) Recruiting Indianapolis,Indiana,46202,United States ###### Leanne Dunn Phone: [317-278-7815](tel:317-278-7815) Email: ###### Marcia Felker, MD Phone: [317-948-7450](tel:317-948-7450) Email: ###### Marcia Felker, MD #### University of Iowa Recruiting Iowa City,Iowa,52242-1009,United States ###### Carrie Stephan Phone: [(319) 356-2673]() Email: ###### Chandra Miller Phone: [319-384-9618](tel:319-384-9618) Email: ###### Katherine Mathews, MD #### University of Kansas Medical Center Recruiting Kansas City,Kansas,66160,United States ###### Jeffrey Statland, MD ###### Rebecca Clay Phone: [913-588-1227](tel:913-588-1227) Email: #### University of Louisville Recruiting Louisville,Kentucky,40202,United States ###### Arpita Lakhotia, MD ###### Lauren Evanczyk Phone: [502-588-3650](tel:502-588-3650) Email: #### University of Minnesota Recruiting Minneapolis,Minnesota,55455,United States ###### Peter Karachunski, MD ###### Seth Stafki, MD Phone: [218-298-2747](tel:218-298-2747) Email: #### University of Missouri Health System Recruiting Columbia,Missouri,65212,United States ###### Anne Bonnett Phone: [573-884-6119](tel:573-884-6119) Email: ###### Jane Emerson, MD #### Atlantic Health System Recruiting Morristown,New Jersey,07960,United States ###### Darius Adams, MD Phone: [518-262-5120](tel:518-262-5120) Email: ###### Darius Adams, MD #### University of Rochester Medical Center Recruiting Rochester,New York,14642,United States ###### Bohoon Lee, MD ###### Bohoon Lee Phone: [585-275-2776](tel:585-275-2776) Email: [Bohoon\_Lee@URMC.Rochester.edu](mailto:Bohoon_Lee@URMC.Rochester.edu) ###### Kim Hart Kim\_ Email: #### The State University of New York Recruiting Stony Brook,New York,11794,United States ###### Christine Pol Phone: [631-444-9083](tel:631-444-9083) Email: ###### Simona Treidler, MD #### Duke Health Recruiting Durham,North Carolina,27705,United States ###### Karen Cornett Phone: [919-684-1143](tel:919-684-1143) Email: ###### Mai Elmallah, MD #### Cincinnati Children's Hospital Medical Center Recruiting Cincinnati,Ohio,45229-3026,United States ###### Cuixia Tian, MD ###### Emily Hunsaker Phone: [513-636-5511](tel:513-636-5511) Email: #### Nationwide Children's Hospital Recruiting Columbus,Ohio,43205,United States ###### Megan Waldrop, MD ###### Megan Waldrop Phone: [614-722-2231](tel:614-722-2231) Email: #### Oregon Health and Science University Recruiting Portland,Oregon,97239-3098,United States ###### Bryn McCarthy Phone: [503-418-8297](tel:503-418-8297) Email: ###### Erika Finanger, MD #### Penn State Hershey Recruiting Hershey,Pennsylvania,17033,United States ###### Ashutosh Kumar, MD Phone: [(717) 531-8790]() Email: ###### Ellen Stoute Phone: [717-531-1260](tel:717-531-1260) Email: #### University of Pittsburgh Medical Center Recruiting Pittsburgh,Pennsylvania,15224,United States ###### Emma Sekscinski Phone: [302-393-6102](tel:302-393-6102) Email: ###### Hoda Abdel-Hamid, MD #### Prisma Health Recruiting Greenville,South Carolina,29615,United States ###### Addie Hunnicutt Hunnicutt Phone: [864-454-5110](tel:864-454-5110) Email: ###### Addie Hunnicutt, MD ###### Addie Hunnicutt Phone: [(864) 454-5110]() Email: #### Methodist Le Bonheur Healthcare Recruiting Memphis,Tennessee,38103,United States ###### Elena Caron, MD ###### Farimah Salami Phone: [901-287-4509](tel:901-287-4509) Email: #### Cook Children's Recruiting Fort Worth,Texas,76104,United States ###### Kayla Blough Phone: [682-319-5312](tel:682-319-5312) Email: ###### Warren Marks, MD #### Texas Children's Hospital Recruiting Houston,Texas,77030,United States ###### Felize Singleton Phone: [832-824-1640](tel:832-824-1640) Email: ###### Timothy Lotze, MD #### CHRISTUS Health Recruiting San Antonio,Texas,78207,United States ###### Melissa Svoboda, MD Phone: [210-704-4715](tel:210-704-4715) Email: ###### Melissa Svoboda, MD #### University of Utah Recruiting Salt Lake City,Utah,84113,United States ###### Russell Butterfield, MD, PhD ###### Sarah Moldt Phone: [801-585-9399](tel:801-585-9399) Email: #### University of Virginia Health System Recruiting Charlottesville,Virginia,22908,United States ###### Chelsea Masterson Phone: [434-297-5737](tel:434-297-5737) Email: ###### Rebecca Scharf, MD #### Children's Hospital of The King's Daughters Recruiting Norfolk,Virginia,23507,United States ###### Cassandra Todd Phone: [757-846-1969](tel:757-846-1969) Email: ###### Crystal Proud, MD #### Virginia Commonwealth University Health System Recruiting Richmond,Virginia,23298,United States ###### Amy Harper, MD ###### Ana Rosa Rezeq Phone: [804-828-1445](tel:804-828-1445) Email: #### Seattle Children's Recruiting Seattle,Washington,98105,United States ###### Marissa Robertson Phone: [206-987-5457](tel:206-987-5457) Email: ###### Seth Perlman, MD #### MultiCare Health System Recruiting Tacoma,Washington,98405,United States ###### Anisha Schwarz, MD ###### Beky Stone Phone: [971-319-0237](tel:971-319-0237) Email: #### University of Wisconsin Recruiting Madison,Wisconsin,53792,United States ###### Jennifer Kwon, MD ###### Maggie Chilsen Phone: [608-263-2704](tel:608-263-2704) Email: #### Children's Hospital of Wisconsin Recruiting Milwaukee,Wisconsin,53226,United States ###### Matthew Harmelink, MD ###### Rebecca Rehborg Phone: [(414) 805-8369]() Email: ###### Rupa Nallamothu Phone: [414-955-0685](tel:414-955-0685) Email: #### Washington University School of Medicine in St. Louis Recruiting St Louis,Missouri,63110,United States ###### Craig Zaidman, MD ###### Natalie Goedeker Phone: [314-362-4919](tel:314-362-4919) Email: ## Worldwide Contacts If the location of your choosing does not feature any contact detail, please reach out using the information below. #### Novartis Gene Therapies Phone: [ +4161324111](tel:+4161324111) Email: [](mailto:) #### Novartis Gene Therapies Phone: [ 1-888-669-6682](tel:1-888-669-6682) Email: