Rare diseases
Every rare disease with a page on Voxsanity, and how many clinical trials each one has open to new participants at an Australian site. Most rare diseases have none here at any given time, and each page says where else to look.
At a glance
60 rare diseases with a page
49 of them with a trial recruiting in Australia
176 trials across all of them
15 October 2026 date the newest record was checked
These are the rare diseases Voxsanity has a page for, not every rare disease. Orphanet's catalogue lists thousands more. If yours is not here, the registry searches on any of these pages will still find trials for it.
Find a rare disease
60 of 60 rare diseases shown.
A disease can sit in more than one body system, so the groups overlap and adding them up gives more than 60. The body-system mapping and the alternative names were taken on 20 September 2026. 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).
A to Z
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Achondroplasia
6 trials recruiting in Australia
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Alpha-1 Antitrypsin Deficiency
5 trials recruiting in Australia · also called Alpha-1-proteinase inhibitor deficiency, Alpha1-antitrypsin deficiency
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Angelman Syndrome
1 trial recruiting in Australia
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Atypical Haemolytic Uraemic Syndrome
3 trials recruiting in Australia · also called Atypical HUS, aHUS
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Autosomal Dominant Polycystic Kidney Disease
4 trials recruiting in Australia · also called ADPKD
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Bronchopulmonary Dysplasia
1 trial recruiting in Australia · also called BPD
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Castleman Disease
1 trial recruiting in Australia · also called Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia
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Cleft Lip and Palate
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Congenital Diaphragmatic Hernia
No trials recruiting in Australia. The page lists the registry searches for elsewhere. · also called CDH
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Craniopharyngioma
4 trials recruiting in Australia
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Cystic Fibrosis
3 trials recruiting in Australia · also called CF, Mucoviscidosis
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Dermatomyositis
4 trials recruiting in Australia · also called Adult dermatomyositis
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Down Syndrome
1 trial recruiting in Australia · also called Trisomy 21
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Essential Thrombocythaemia
9 trials recruiting in Australia · also called ET, Essential thrombocytosis
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Fabry Disease
2 trials recruiting in Australia · also called Alpha-galactosidase A deficiency, Anderson-Fabry disease, FD
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Focal Segmental Glomerulosclerosis
5 trials recruiting in Australia
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Friedreich Ataxia
4 trials recruiting in Australia · also called FA, FRDA
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Gaucher Disease
2 trials recruiting in Australia · also called Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency
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Haemophilia
10 trials recruiting in Australia · also called Congenital F9 deficiency, Congenital factor IX deficiency, Christmas disease
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Hereditary Angioedema Type 2
7 trials recruiting in Australia · also called Familial angioneurotic edema, HAE, Hereditary angioneurotic edema, Hereditary bradykinine-induced angioedema, Hereditary non histamine-induced angioedema
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Hidradenitis Suppurativa
5 trials recruiting in Australia
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Huntington's Disease
6 trials recruiting in Australia · also called Huntington chorea
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Hypochondroplasia
6 trials recruiting in Australia
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Immune Thrombocytopenia
7 trials recruiting in Australia · also called ITP, Immune thrombocytopenic purpura
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Interstitial Cystitis
No trials recruiting in Australia. The page lists the registry searches for elsewhere. · also called Bladder pain syndrome, IC/BPS, IC/PBS, Interstitial cystitis/bladder pain syndrome, Interstitial cystitis/painful bladder syndrome, Painful bladder syndrome
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Leiomyosarcoma
5 trials recruiting in Australia
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Liposarcoma
4 trials recruiting in Australia
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Membranous Nephropathy
4 trials recruiting in Australia
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Meningioma
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Muscular Dystrophy
13 trials recruiting in Australia
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Neonatal Hypoxic-Ischaemic Encephalopathy
1 trial recruiting in Australia
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Neuroblastoma
4 trials recruiting in Australia
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Niemann-Pick Disease Type C
3 trials recruiting in Australia
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Osteosarcoma
4 trials recruiting in Australia · also called Osteogenic sarcoma
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Paroxysmal Nocturnal Haemoglobinuria
2 trials recruiting in Australia · also called Marchiafava-Micheli disease, PNH
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Pemphigus Vulgaris
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Phenylketonuria
4 trials recruiting in Australia · also called PKU
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Polycythaemia Vera
6 trials recruiting in Australia · also called Acquired primary erythrocytosis, Osler-Vaquez disease, PV, Polycythemia rubra vera, Vaquez disease
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Pompe Disease
2 trials recruiting in Australia · 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
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Primary Biliary Cholangitis
4 trials recruiting in Australia · also called Hanot syndrome, PBC, Primary biliary cirrhosis
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Primary Mediastinal B-Cell Lymphoma
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Propionic Acidaemia
1 trial recruiting in Australia · also called Ketotic hyperglycinemia, Propionic aciduria, Propionyl-CoA carboxylase deficiency
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Pulmonary Hypertension
12 trials recruiting in Australia · also called PAH
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Retinitis Pigmentosa
6 trials recruiting in Australia
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Rhabdomyosarcoma
3 trials recruiting in Australia
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Sarcoidosis
No trials recruiting in Australia. The page lists the registry searches for elsewhere. · also called Besnier-Boeck-Schaumann disease, Boeck sarcoid
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Short Bowel Syndrome
2 trials recruiting in Australia
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Sickle Cell Disease
2 trials recruiting in Australia · also called Homozygous hemoglobin S, Homozygous sickle cell anemia SS
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Spinal Muscular Atrophy
4 trials recruiting in Australia
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Synovial Sarcoma
2 trials recruiting in Australia · also called Synovialosarcoma
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Systemic Mastocytosis
2 trials recruiting in Australia
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Thymoma and Thymic Carcinoma
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Trigeminal Neuralgia
No trials recruiting in Australia. The page lists the registry searches for elsewhere.
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Turner Syndrome
No trials recruiting in Australia. The page lists the registry searches for elsewhere. · also called 45,X syndrome, 45,X/46,XX syndrome
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Vasculitis
6 trials recruiting in Australia · also called Systemic vasculitis
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Von Willebrand Disease
4 trials recruiting in Australia · also called Hereditary pseudohaemophilia, Hereditary von Willebrand disease
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Von Willebrand Disease Type 2
4 trials recruiting in Australia · also called Hereditary pseudohaemophilia, Hereditary von Willebrand disease
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Von Willebrand Disease Type 3
4 trials recruiting in Australia · also called Hereditary pseudohaemophilia, Hereditary von Willebrand disease
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Waldenstrom's Macroglobulinaemia
5 trials recruiting in Australia
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Wilson Disease
No trials recruiting in Australia. The page lists the registry searches for elsewhere. · also called Hepatolenticular degeneration
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By body system
Choose a body system to filter the list above. The groups come from the medical index each disease is classified under, and a disease can appear in more than one.
The weekly Australian trial update
One email a week listing the trials that started recruiting in Australia that week, grouped by condition. Nothing else. It is free, and you can unsubscribe from any email with one click.
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.
Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.
Not medical advice.