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. 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.