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

Last Update: Nov 04, 2024

A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

ClinicalTrials.gov Identifier:

Novartis Reference Number:COAV101A12001

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 Participants

500

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.

University General Hospital Attikon

Recruiting

Chaïdári,Athens,124 62,Greece

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

Study Description

Interventions

Prospective observational registry

Zolgensma

Eligibility Criteria

University General Hospital Attikon

Argyrios Dinopoulos, MD

Argyrios Dinopoulos, MD

Penteli Children's Hospital

Chrysanthi Tsimakidi

Chrysanthi Tsimakidi

St. Sophia Children's Hospital

Maria Roser-Pons, MD, MD

Maria Roser-Pons, MD

General Hospital of Thessaloniki Ippokrateio

Dimitrios Zafeiriou, MD

Dimitrios Zafeiriou, MD

Children's University Hospital-UCD School of Medicine Scoil an Leighis

Declan O Rourke, MD

Soroka Medical Centre

Iris Noyman, MD

Iris Noyman, MD

Wolfson Medical Center

Mira Ginsberg, MD

Mira Ginsberg, MD

Tel-Aviv Sourasky Medical Center

Aviva Fattal, MD

Aviva Fattal, MD

Schneider- Children's Medical Center

Sharon Aharoni, MD

Sharon Aharoni, MD

Samsung Medical Centre

Jiwon Lee

Min Jeong Kim, SC

Pusan National University Yangsan Hospital

Yunjin Lee, MD

Yunjin Lee, MD

Kyungpook National University Hospital

Jeong Jin Yun, SC

Yunjeong Lee, MD

Yongin Severance Hospital

Haneul Lee

Lae-song Noh, SC

Seoul National University Bundang Hospital

Anna Cho, MD

Anna Cho, MD

Seoul National University Children's Hospital

Jong Hee Chae

MD

Miae Kim, SC

Severance Hospital

Hoonchul Kang, MD

Hoonchul Kang, MD

Uniwersytecki Szpital Dzieciec

Magdalena Chroscinska-Krawczyk, MD

Magdalena Chroscinska-Krawczyk, MD

Centro Hospitalar Universitario Lisboa Norte, EPE

Teresa Moreno, MD

Teresa Moreno, MD

Joana Coelho, MD

Centro Hospitalar Universitario de Sao Joao, EPE

Raquel Carvalho Sousa

Raquel Carvalho Sousa, MD

CHUC - Hospital Pediatrico

Joana Ribeiro, MD

Joana Ribeiro, MD

Centro Hospitalar Universitaria de Lisboa Central, EPE

Jose Pedro Vieira, MD

Jose Pedro Vieira, MD

Centro Hospitalar Universitario de Porto, EPE

Cristina Garrido, MD

Cristina Garrido, MD

Centrul de Recuperare pentru Copii dr. Nicolae Robanescu

Madalina Cristina Leanca, MD

Madalina Cristina Leanca

Spitalul Clinic de Psihiatrie

Loana Minciu, MD

Loana Minciu

Almazov National Medical Research Centre