What changed for Rare Disease
A plain English summary of what recently moved in the public data Voxsanity tracks for Rare Disease. Updated from government registries. Not medical advice.
How to read these changes: every figure on this page is the difference between two snapshots of what Voxsanity had tracked on each date. Voxsanity only began taking daily snapshots in July 2026 and is still ingesting the public registries, so a rise here is mostly our own coverage expanding rather than new research appearing. Read it as our tracked coverage growing, not as a claim about real-world research changing this fast: it overstates how much actually changed.
Comparing the two most recent snapshots, 27 July 2026 and 28 July 2026.
- Trials recruiting worldwide 213 to 217 (+4)
- Late-stage (Phase 3) trials 11 to 12 (+1)
- Trials on record 916 to 942 (+26)
Newly subsidised on the PBS
No PBS-reviewed medicines are tracked for Rare Disease yet, so new PBS listings cannot be reported for it. This is a gap in what Voxsanity has mapped, not a statement that no medicines are subsidised — check the PBS directly.
Past updates
Tracking began in July 2026. Month on month changes will appear here once a second month of data has been recorded. Until then, the comparison above shows the most recent movement.
Recent trend
Weekly, most recent weeks (fills out to a monthly trend as history grows).
Recent trial results
The 30 most recent of 37 trials tracked for Rare Disease that have reported results to a public registry.
AI generated results summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
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NCT04046224 · results posted 14 April 2026
According to the results reported on ClinicalTrials.gov, this trial (NCT04046224) tested a gene therapy called ST-920 in people with Fabry disease, a rare inherited condition. The trial enrolled 33 participants in total, spread across nine groups that received either different doses of ST-920 or the same high dose but were selected based on specific characteristics (such as having heart or kidney involvement, being female, or having particular antibody levels). The trial was measuring how often unwanted health events occurred after receiving ST-920, and how levels of a specific enzyme — called...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT03635073 · results posted 19 March 2026
According to the results reported on ClinicalTrials.gov, this trial (NCT03635073) enrolled 156 participants who were given a study medicine called soticlestat. The trial was measuring a range of things, including how often participants experienced unexpected medical events (called adverse events) while taking the medicine, changes in behaviour and everyday living skills (using two questionnaires — the Vineland Adaptive Behavior Scale and the Aberrant Behavior Checklist), thoughts of self-harm (using a standard rating scale), and changes in certain blood test results. The reported data shows th...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT05998395 · results posted 3 February 2026
According to the results reported on ClinicalTrials.gov, this trial enrolled just one participant. The study was looking at a drug called ruxolitinib as a potential treatment for a very rare condition called Kohlmeier-Degos disease affecting the central nervous system (CNS) — meaning the brain and spinal cord. The main thing being measured was whether MRI scans (brain and spine imaging) showed that existing lesions (areas of abnormality) stayed stable or shrank, or whether no new lesions appeared, after the participant took ruxolitinib for between 13 and 73 weeks. The reported data shows that...
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NCT04221451 · results posted 28 January 2026
According to the results reported on ClinicalTrials.gov, this trial (NCT04221451) looked at a medicine called venglustat in people with certain rare inherited conditions affecting the nervous system. The main group studied had a condition called Niemann-Pick disease type C (referred to as the "primary population"), while a smaller "secondary population" included people with related conditions such as GM1 or GM2 gangliosidosis, sialidosis type 1, and galactosialidosis. In the first phase of the trial (up to about two years), 19 participants received a placebo (a dummy treatment with no active i...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT05612139 · results posted 26 January 2026
According to the results reported on ClinicalTrials.gov, this trial involved 14 participants, all of whom completed the study with no dropouts. The trial was examining a device called JTIN — an intramedullary nail (a rod inserted into the bone) — and was looking at how often unwanted medical events occurred during procedures involving it, as well as several measures related to how the implant and the treated bones performed over the follow-up period. The reported data shows that in 4% of procedures, at least one adverse event (an unwanted medical occurrence) that was considered certainly or p...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT05358717 · results posted 13 January 2026
According to the results reported on ClinicalTrials.gov, this trial (NCT05358717) enrolled 159 people across three groups — 53 received a placebo (a dummy treatment with no active ingredient), 52 received a 5 mg dose of PTC518, and 54 received a 10 mg dose of PTC518. The trial was studying PTC518, an investigational oral tablet being tested in people with Huntington's disease. The main things being measured were how many participants experienced unexpected medical events (called adverse events) after taking the study drug, and how much a specific protein linked to Huntington's disease — called...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT03936777 · results posted 17 November 2025
According to the results reported on ClinicalTrials.gov, this trial (NCT03936777) enrolled 412 participants who received an open-label (meaning everyone knew what treatment they were getting) dose of a medicine called ZX008. Of those, 360 completed the study and 52 did not. The trial was measuring how often unwanted medical events (called adverse events) occurred during treatment, and also tracking how participants' overall wellbeing, thinking, behaviour, and movement were rated over time by both parents/carers and the medical team running the trial. The reported data shows that the primary t...
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NCT04200664 · results posted 10 June 2025
According to the results reported on ClinicalTrials.gov, this trial (NCT04200664) looked at hearing and balance function in people with a condition called idiopathic superficial siderosis (iSS) — a rare condition where iron deposits build up around the brain and spinal cord. The study planned to include three groups: people with iSS, people with age-related hearing loss, and a healthy control group. However, the reported data shows that only the iSS group enrolled any participants — 11 people started the study and 10 completed it. No participants were enrolled in the other two groups, so no co...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT04612790 · results posted 29 November 2024
According to the results reported on ClinicalTrials.gov, this trial (NCT04612790) looked at a medicine called benralizumab compared to a placebo (a dummy treatment with no active ingredient) in people with a skin condition called bullous pemphigoid. In the first part of the trial (the "double-blind period," lasting up to 36 weeks), 34 people received benralizumab and 33 received placebo — neither the participants nor the researchers knew who was getting which treatment. A smaller follow-on "open-label extension" period then took place, in which 16 and 18 participants respectively continued or...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT03474640 · results posted 22 November 2024
According to the results reported on ClinicalTrials.gov, this trial tested a drug called toripalimab in people with advanced cancers. The trial had two parts: Part A looked at three different dose levels of the drug (80 mg, 240 mg, and 480 mg, given every 14 days) to examine how the body responded to each dose, while Part B enrolled participants grouped by their cancer type — including sarcoma (59 people), biliary tract cancer (42 people), gastric cancer (29 people), neuroendocrine cancer (22 people), oesophageal cancer (11 people), and other tumours (3 people). In total, 177 people took part...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT04316143 · results posted 15 October 2024
According to the results reported on ClinicalTrials.gov, this trial (NCT04316143) tested a medicine called zamicastat across four different daily doses: 50 mg, 100 mg, 150 mg, and 200 mg. The trial followed a stepped approach, where participants moved through each dose level in sequence — 29 people started at the 50 mg stage, 27 continued to the 100 mg stage, 21 to the 150 mg stage, and 19 reached the 200 mg stage. The trial was primarily measuring how the drug moved through the body — specifically how much of it got into the bloodstream, how high the levels peaked, and how quickly that peak w...
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NCT04966741 · results posted 10 July 2024
According to the results reported on ClinicalTrials.gov, this trial (NCT04966741) enrolled 12 children in total — 7 with a condition called PPL (Pomc, Pcsk1, or Lepr deficiency) and 5 with a condition called BBS (Bardet-Biedl syndrome). Both are rare genetic conditions linked to obesity. The trial was testing a medicine called setmelanotide over 52 weeks (about one year), and the main things being measured were changes in body weight relative to height — specifically something called BMI (body mass index) and a related score that compares a child's BMI to others of the same age and sex. The r...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT03679598 · results posted 9 July 2024
According to the results reported on ClinicalTrials.gov, this trial (NCT03679598) enrolled 63 people in total — 32 received a medicine called alvelestat (also known as MPH966) twice a day for 12 weeks, and 31 received a placebo (a dummy treatment with no active ingredient). The trial was set up to measure two main things: changes in a blood substance called desmosine/isodesmosine (a marker linked to tissue breakdown in the lungs) and how many participants experienced at least one unwanted health event (called a treatment-emergent adverse event) during the study. A number of additional blood ma...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT03434418 · results posted 17 October 2023
According to the results reported on ClinicalTrials.gov, this trial enrolled 17 people, all of whom received the drug osimertinib. The trial was measuring how well the drug could shrink tumours in participants, as well as tracking how long it took for their disease to worsen and how long they survived overall. Of the 17 who started, 2 completed the study and 15 did not complete it (the reasons for this are not detailed in the reported data). The reported data shows that 8 out of 17 participants had their tumours shrink by a meaningful amount — meaning their scans showed either a large reducti...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT02034110 · results posted 21 August 2023
According to the results reported on ClinicalTrials.gov, this trial (NCT02034110) enrolled a total of 206 participants across eight different cancer types: anaplastic thyroid cancer (36 people), biliary tract cancer (43 people), gastrointestinal stromal tumour (1 person), low-grade glioma — a type of brain tumour (13 people), high-grade glioma (45 people), adenocarcinoma of the small intestine (3 people), hairy cell leukaemia (55 people), and multiple myeloma (10 people). The trial was primarily measuring the "overall response rate" — that is, the percentage of participants in each cancer grou...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT02651675 · results posted 13 July 2023
According to the results reported on ClinicalTrials.gov, this trial enrolled nine participants in total, split across three groups: Cohort 1 (3 people), Cohort 2 (3 people), and a Cohort 2 Expansion group (3 people). Eight of the nine participants completed the study — one person in the Cohort 2 Expansion group did not finish. The trial was measuring how the investigational product (a gene therapy delivered via a viral vector) behaved in the body, including tracking unwanted events (called adverse events) linked to the treatment, changes in blood fat levels such as LDL cholesterol, and how muc...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT04179890 · results posted 25 May 2023
According to the results reported on ClinicalTrials.gov, this trial enrolled 255 participants in the "Uncommon EGFR Mutation Cohort" (people whose lung cancer had a less common type of gene change called an EGFR mutation) and 207 participants in the "Sequencing Cohort" (people with a more common type of EGFR mutation who received two targeted medicines one after the other — first afatinib, then osimertinib). Of those who started, 246 and 191 participants respectively completed the study. The trial was primarily measuring how long participants stayed on their targeted cancer medicine (called an...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT04240886 · results posted 19 May 2023
According to the results reported on ClinicalTrials.gov, this trial (NCT04240886) enrolled 21 adults who received the study drug fosmanogepix (also called APX001) as part of Cohort A. The trial was investigating a treatment for serious fungal infections, and it tracked what happened to participants over roughly six weeks (up to Day 42). Of the 21 people who started the treatment phase, 11 completed it and 10 did not. The trial measured things like survival, how the fungal infection responded, and what medical events occurred during the study. The reported data shows that 25% of participants (...
Read the full trial page · View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT02702115 · results posted 26 January 2023
According to the results reported on ClinicalTrials.gov, this trial (NCT02702115) tested an investigational gene therapy called SB-318 in people with a rare inherited condition affecting the body's ability to break down certain complex sugars. Participants were placed into three groups, each receiving a different dose of SB-318. One person was enrolled in the lowest-dose group (Cohort 1), two people were enrolled in the middle-dose group (Cohort 2), and no participants were enrolled or completed the highest-dose group (Cohort 3). The trial was measuring things such as unwanted medical events t...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT02358538 · results posted 7 September 2022
According to the results reported on ClinicalTrials.gov, this trial enrolled 30 people across four groups defined by their type of epilepsy syndrome: 7 with CDKL5, 2 with CSWS, 10 with Lennox-Gastaut syndrome, and 11 with PCDH19. The trial was measuring how often seizures occurred over a 28-day period, comparing that rate to each participant's starting (baseline) rate, and tracking this at around 3 months, 26 weeks, and through a 52-week extension period. Not everyone completed the full study — by the end of the 52-week extension, 4 CDKL5, 0 CSWS, 2 Lennox-Gastaut, and 2 PCDH19 participants ha...
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NCT02985710 · results posted 7 October 2021
According to the results reported on ClinicalTrials.gov, this trial (NCT02985710) enrolled a total of 102 people across two groups: 69 in the "Sudoscan Only" group and 33 in the "Sudoscan Plus" group. The trial was measuring whether a device called Sudoscan — which checks how well the skin conducts a small electrical signal as an indirect measure of sweating ability — could detect nerve-related abnormalities in people with Fabry disease, a rare inherited condition. Specifically, the trial looked at whether the device's readings matched up with clinical signs of a type of nerve damage called sm...
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NCT02317562 · results posted 20 April 2021
According to the results reported on ClinicalTrials.gov, this trial (NCT02317562) enrolled 19 participants, all in a single group called the "I10E Arm." The trial was measuring a "responder rate" at the end of the study — that is, how many participants met certain criteria related to their disability score (a standard scale used to track how a nerve condition called CIDP affects daily functioning) and whether their treatment needed to be changed. Of the 19 people who started, only 5 completed the study, while 14 did not finish. The reported data shows that 15 out of 19 participants were count...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT00004418 · results posted 23 October 2020
According to the results reported on ClinicalTrials.gov, this trial enrolled 126 participants, all of whom completed the study with none dropping out. The trial involved a single treatment group who received a combination called GTO/GTE (types of dietary oils). The study was measuring two main things: changes in the blood levels of certain fatty acids known as very long chain fatty acids (VLCFAs — a type of fat that builds up in the body in a condition called Adrenoleukodystrophy, or ALD), and whether any participants showed brain changes on MRI scans linked to childhood ALD. The reported dat...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT02293460 · results posted 9 March 2020
According to the results reported on ClinicalTrials.gov, this trial (NCT02293460) enrolled 43 participants in a single group — meaning everyone received the same treatment, with no comparison group. The trial was measuring whether participants showed a meaningful improvement on a disability scale called the adjusted INCAT score, which runs from 0 (no disability) to 9 (the highest level of disability). A "responder" was defined as someone whose score dropped by at least 1 point from their starting point by the end of the study. By the time the study finished, 37 of the 43 participants had compl...
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NCT02465528 · results posted 21 October 2019
According to the results reported on ClinicalTrials.gov, this trial (NCT02465528) enrolled 22 people in total across four groups based on their cancer type: 1 person with Anaplastic Large Cell Lymphoma (ALCL, a blood cancer), 4 with Inflammatory Myofibroblastic Tumour (IMT, a rare soft-tissue tumour), 12 with Glioblastoma (GBM, an aggressive brain tumour), and 5 with other cancers that share a specific gene change called ALK-positive. The trial was measuring how the drug ceritinib performed across these different cancer types, looking at things like how many participants had their disease cont...
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NCT01908816 · results posted 12 August 2019
According to the results reported on ClinicalTrials.gov, this trial enrolled 270 people in total across four groups defined by their eye condition: 93 people with choroidal neovascularisation (abnormal blood vessel growth under the retina, or CNV), 84 with macular oedema (fluid swelling in the central part of the retina, or ME), 58 with rubeosis iridis/neovascular glaucoma (abnormal blood vessels on the iris combined with raised eye pressure, or RI/NVG), and 35 with proliferative diabetic retinopathy/vitreous (PDR/V). The trial was measuring the number of adverse events (unwanted medical occur...
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NCT02432144 · results posted 30 July 2019
According to the results reported on ClinicalTrials.gov, this trial (NCT02432144) enrolled 12 participants, all of whom received the study treatment called UX003. Eleven of the 12 participants completed the trial, and one did not finish. The trial was measuring two main things: first, how many participants experienced unwanted medical events (called treatment-emergent adverse events, or TEAEs) while on the treatment; and second, how levels of a substance called dermatan sulfate — a type of sugar-like molecule that can build up in the body — changed in participants' urine over time. The report...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT01920477 · results posted 6 June 2019
According to the results reported on ClinicalTrials.gov, this trial enrolled 35 people in total — 17 received a medicine called ofatumumab and 18 received a placebo (a dummy treatment with no active ingredient). The trial was studying a skin condition and looking at whether participants could reach a point where their disease was under control ("remission") while taking only a low dose of steroid tablets (10 mg per day or less). The trial ran to 60 weeks, and only a small number of participants — 2 in the ofatumumab group and 1 in the placebo group — completed it in full. The reported data sh...
Read the full trial page · View reported results on ClinicalTrials.gov ↗
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NCT01197378 · results posted 24 July 2018
According to the results reported on ClinicalTrials.gov, this trial enrolled 60 people, all of whom were given a medicine called cysteamine bitartrate. The trial was looking at two main things: how often participants experienced unwanted health events (called adverse events) while taking the medicine, and how the medicine behaved in the body over time — specifically, how much of the medicine could be detected in the blood, and how much of a substance called cystine (which builds up in the cells of people with cystinosis, a rare inherited condition) was present in white blood cells. Of the 60 w...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
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NCT01733316 · results posted 24 May 2017
According to the results reported on ClinicalTrials.gov, this trial enrolled 41 participants, all of whom had cystinosis — a rare condition where a substance called cystine builds up harmfully in the body's cells. The trial compared two forms of a medicine: an older version called Cystagon® (taken four times a day) and a newer delayed-release version called RP103 (taken twice a day). The main thing the trial was measuring was the level of cystine inside white blood cells at different times of day — specifically, whether there was a difference between morning and non-morning readings — as a way...
View reported results on ClinicalTrials.gov ↗ · Linked publication on PubMed ↗
See all 37 reported results for Rare Disease
These are the results as reported to the registry, not medical advice. Verify independently with the trial site and discuss what they mean for you with your doctor.
What is coming
AI generated pipeline summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
According to NIH funding data, public investment in this condition is currently at a very large level, and the direction of that funding is rising year on year. This is an encouraging signal for patients, as sustained and growing public funding tends to support ongoing research into causes, mechanisms and potential treatments. While funding alone does not guarantee new therapies, it does suggest t...
See the full Rare Disease page
Not medical advice. Voxsanity republishes public government health data in plain English. These figures describe research and registry activity, not the suitability of any treatment for any person. Trial status can change; always verify current status directly with the trial site and confirm Australian availability with your doctor.