Rare disease
Pompe Disease
Clinical trials recruiting in Australia for Pompe Disease, a rare disease, as the public registries list them.
Also called: Alpha-1,4-glucosidase acid deficiency; GSD due to acid maltase deficiency; GSD type 2; GSD type II; Glycogen storage disease type 2; Glycogen storage disease type II; Glycogenosis due to acid maltase deficiency; Glycogenosis type 2; Glycogenosis type II; Pompe disease; Pompe's disease; GSD II; GSD2; Acid maltase deficiency; GAA deficiency; Alpha-1,4-glucosidase deficiency
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At a glance
2 trials recruiting in Australia
31 trials recruiting overseas
Unknown (Point prevalence, Worldwide, Not yet validated) prevalence
Adolescent; Adult; Antenatal; Childhood; Infancy; Neonatal age of onset
11 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 Pompe Disease
Where- Investigational Site Number : 036013, Westmead (NSW) — Recruiting
- Investigational Site Number : 151069, Westmead (NSW) — Recruiting
- Investigational Site Number : 154087, Brisbane (QLD) — Completed
- Investigational Site Number : 152096, Brisbane (QLD) — Terminated
- Investigational Site Number : 151015, Murdoch (WA) — Recruiting
Who can join Age child, adult, older adult. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Genzyme, a Sanofi CompanyTimelineStarted 15 September 2004 Today 16 October 2026 Estimated completion 31 January 2034NCT00231400 · Checked 11 October 2026
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Recruiting Not a phased study
Study for people with Pompe Disease
Where- Investigational Site Number : 151069, Westmead (NSW) — Recruiting
Who can join Age child, adult, older adult. Sex Female participants only. Healthy volunteers Not accepted.Sponsor Genzyme, a Sanofi CompanyTimelineStarted 18 June 2007 Today 16 October 2026 Estimated completion 31 January 2034NCT00567073 · Checked 11 October 2026
Trials overseas
31 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 Pompe Disease
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
US source; availability in Australia may differ.
Source: MedlinePlus Genetics (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
- Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
- ClinicalTrials.gov processing date: 23 June 2026.
- This page last checked by Voxsanity: 11 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.
Orphanet citation
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). Accessed 20 September 2026.
Pompe Disease is one of the rare diseases tracked on the Voxsanity rare disease hub, where you can compare it with every other rare condition we follow and filter trials by country.
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