Rare disease
Spinal Muscular Atrophy
Clinical trials recruiting in Australia for Spinal Muscular Atrophy, a rare disease, as the public registries list them.
Also called: SMA; 5q SMA; Proximal SMA; Spinal muscle degeneration; Spinal muscle wasting; Spinal amyotrophy
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At a glance
4 trials recruiting in Australia
95 trials recruiting overseas
Not recorded prevalence
Not recorded age of onset
15 October 2026 date last checked
Trials in Australia
This Australian count is likely to be on the low side. It counts the trials this site files under this condition; the registry’s own search is broader and also returns closely related conditions, some of which have their own page here. If you are searching widely, check the registry as well — every trial below links to its own record.
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Recruiting Not a phased study
Study for people with Spinal Muscular Atrophy
Where- Online Patient Enrollment System, Sydney — Recruiting
Who can join Age child, adult, older adult. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Sanford HealthTimelineStarted 1 July 2010 Today 16 October 2026 Estimated completion 1 December 2100NCT01793168 · Checked 11 October 2026
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Recruiting Phase 2
Phase 2 study for people with Spinal Muscular Atrophy
Where- Novartis Investigative Site, Camperdown (NSW) — Withdrawn
- Novartis Investigative Site, Wollongong (NSW) — Recruiting
Who can join Age 18 Years and over. Sex Male participants only. Healthy volunteers Not accepted.Sponsor Novartis PharmaceuticalsTimelineStarted 13 January 2026 Today 16 October 2026 Estimated completion 2 August 2032NCT07190300 · Checked 11 October 2026
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Recruiting Phase 3
Phase 3 study for people with Spinal Muscular Atrophy
Where- Sydney Children's Hospital_Randwick, Randwick (NSW) — Recruiting
Who can join Age 0 Days to 42 Days. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor BiogenTimelineStarted 28 April 2026 Today 16 October 2026 Estimated completion 28 November 2028NCT07221669 · Checked 11 October 2026
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Recruiting Phase 2
Phase 2 study for people with Spinal Muscular Atrophy
Where- Sydney Children's Hospital, Randwick, Randwick (NSW) — Recruiting
- Royal Children's Hospital, Parkville (VIC) — Not yet recruiting
Who can join Age 5 Years to 17 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor argenxTimelineStarted 19 December 2025 Today 16 October 2026 Estimated completion 28 May 2029NCT07287982 · Checked 15 October 2026
Trials overseas
95 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.
These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.
Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas
Trials not shown here
Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.
Key facts
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).
About Spinal Muscular Atrophy
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
What is spinal muscular atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in your arms, legs, face, chest, throat, and tongue. As the motor neurons die off, your muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing. What are the types of spinal muscular atrophy (SMA) and what are their symptoms? There are different types of SMA. They are based on how serious the disease is and when the symptoms start: - Type l is also called Werdnig-Hoffman disease or infantile-onset SMA. It is the most severe type. It is also the most common. Babies with this type usually show signs of the disease before 6 months of age. In more severe cases, the signs show up even before or just after birth (Types 0 or 1A). The babies may have trouble swallowing and breathing and may not move around a lot. They have chronic shortening of muscles or tendons (called contractures). They usually cannot sit up without help. Without treatment, many children with this type will die before 2 years of age. - Type ll is a moderate to severe type of SMA. It usually first noticed between 6 and 18 months of age. Most children with this type can sit without support but cannot stand or walk without help. They may also have trouble breathing. They can usually live into adolescence or young adulthood. - Type lll is also called Kugelberg-Welander disease. It is the mildest type that affects children. The signs of the disease usually show up after age 18 months. Children with this type can walk by themselves but may have trouble running, getting up from a chair, or climbing stairs. They may also have scoliosis (curvature of the spine), contractures, and respiratory infections. With treatment, most children with this type will have a normal lifespan. - Type IV is rare and often mild. It usually causes symptoms after 21 years of age. The symptoms include mild to moderate leg muscle weakness, tremors, and mild breathing problems. The symptoms slowly get worse over time. People with this type of SMA have a normal lifespan. What causes spinal muscular atrophy (SMA)? Most types of SMA are caused by a change in the SMN1 gene. This gene is responsible for making a protein that the motor neurons need to be healthy and to function. But when part of the SMN1 gene is missing or abnormal, there isn't enough protein for the motor neurons. This causes the motor neurons to die off. Most people have two copies of the SM1 gene - one from each parent. SMA normally only happens when both copies have the gene change. If only one copy has the change, there usually aren't any symptoms. But that gene could be passed down from parent to child. Some of the less common types of SMA may be caused by changes in other genes. How is spinal muscular atrophy (SMA) diagnosed? Your health care provider may use many tools to diagnose SMA: - A physical exam - A medical history, including asking about family history - Genetic testing to check for the gene changes that cause SMA - Electromyography and nerve conduction studies and a muscle biopsy may be done, especially if no gene changes were found Parents who have a family history of SMA may want to do a prenatal test to check to see whether their baby has an SMN1 gene change. An amniocentesis or in some cases a chorionic villi sampling (CVS) is used to get the sample for testing. In some states, genetic testing for SMA is part of newborn screening tests. What are the treatments for spinal muscular atrophy (SMA)? There is no cure for SMA. Treatments can help manage symptoms and prevent complications. They may include: - Medicines to help the body make more of the proteins that the motor neurons need - Gene therapy for children under 2 years of age - Physical, occupational, and rehabilitation therapy to help to improve posture and the mobility of the joints. These therapies may also improve blood flow and slow muscle weakness and atrophy. Some people may also need therapy for trouble speaking, chewing, and swallowing. - Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs to help people stay more independent - Good nutrition and a balanced diet to help maintain weight and strength. Some people might need a feeding tube in order to get the nutrition they need. - Breathing support for people who have muscle weakness in the neck, throat, and chest. The support may include devices to help with breathing during the day and to prevent sleep apnea at night. Some people might need to be on a ventilator. NIH: National Institute of Neurological Disorders and Stroke
US source; availability in Australia may differ.
Source: MedlinePlus Health Topics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.
Sources and dates
- ClinicalTrials.gov – trial records, statuses and site lists
- MedlinePlus – the About text above, reproduced exactly
- ClinicalTrials.gov processing date: 8 October 2026.
- This page last checked by Voxsanity: 15 October 2026.
Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.
Not medical advice.
Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.
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