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

Last Update: Apr 19, 2023

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

ClinicalTrials.gov Identifier:

Novartis Reference Number:AVXS-101-RG-001

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.

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. 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 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.

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

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

Schneider- Children's Medical Center

Sharon Aharoni, MD

Sharon Aharoni, 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

Shiga Medical Center for Children

Kenji Inoue

Kenji Inoue

Kumamoto University Hospital

Shiro Ozasa

Shiro Ozasa

Center Hospital of the National Center for Global Health and Medicine

Reiko Arakawa

Reiko Arakawa, MD

Sapporo Medical University Hospital

Shinobu Fukumura

Shinobu Fukumura

Chiba children's Hospital

Taku Omata, MD

Taku Omata

Fukui Prefectural Hospital

Genrei Ohta

Genrei Ohta

Hamamatsu University School of Medicine, University Hospital

Tokiko Fukuda

Tokiko Fukuda

Miyagi Children's Hospital

Yukimune Okubo

Yukimune Okubo

Kagawa University Hospital

Yukihiko Konishi

Yukihiko Konishi

Kurume University Hospital

Kotaro Yuge, MD

Kotaro Yuge

Jichi Medical University Hospital

Takanori Yamagata

Takanori Yamagata

Obihiro Kosei Hospital

Kimiaki Uetake

Kimiaki Uetake

Kanagawa Children's Medical Center

Tomohide Goto, MD

Tomohide Goto

Gifu Prefectural General Medical Center

Atsushi Imamura, MD

Atsushi Imamura

Seoul National University Bundang Hospital

Anna Cho, MD

Anna Cho, MD

Severance Hospital

Hoonchul Kang, MD

Hoonchul Kang, MD

Pusan National University Yangsan Hospital

Yunjin Lee, MD

Yunjin Lee, MD

Kyungpook National University Hospital

Yunjeong Lee, MD

Yunjeong Lee, MD