Condition (MeSH)
Leigh Disease
ClinicalTrials.gov lists 20 trials for Leigh Disease or a narrower condition beneath it. PTC Therapeutics has the most among industry and government lead sponsors, with 5.
Search trials, drugs, companies and investigators, and follow each one to the others. Individual plan, $249/seat/mo. Card required.
Trials per phase
20 of the 20 trials are tagged with Leigh Disease itself; the rest are tagged with a narrower condition beneath it.
When did Leigh Disease trials start? (11)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 1
- Phase 2
- Phase 2/3
- Phase 3
- Observational
Top of scale: 3
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2026 (partial year) | 1 |
| 2025 | 1 |
| 2022 | 3 |
| 2021 | 1 |
| 2020 | 2 |
| 2015 | 3 |
| 2014 | 2 |
| 2012 | 3 |
| 2011 | 1 |
| 2010 | 1 |
Showing 10 of 11 earlier years.
No forecast is made for this condition: it averages 0.8 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: 1 trial still running at the 2026-10-09 snapshot, fewer than the 5 needed for a median. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Leigh Disease trials in? (6)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 1 |
| Phase 2 | 8 |
| Phase 2/3 | 1 |
| Phase 3 | 1 |
| Observational | 8 |
| Expanded access | 1 |
How many Leigh Disease trials are recruiting? (8)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Not yet recruiting | 1 |
| Recruiting | 6 |
| Enrolling by invitation | 2 |
| Completed | 5 |
| Suspended | 1 |
Showing 5 of 8 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Leigh Disease trials? (7)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| PTC Therapeutics | 5 |
| Amgen | 2 |
| Khondrion BV | 2 |
| Aadi Bioscience, Inc. | 1 |
| National Human Genome Research Institute (NHGRI) | 1 |
Showing 5 of 7 sponsors.
Which drugs are being tested for Leigh Disease? (4)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| EPI-743 | 5 |
| (Cystagon) Cysteamine Bitartrate | 2 |
| KH176 | 2 |
| Sirolimus | 1 |
Interventions as named in the registry (4)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| off-label compassionate drug use | 1 |
| 20% mannitol | 1 |
| TTI-0102: cysteamine-pantetheine disulfide | 1 |
| ABI-009 | 1 |
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which serious adverse events do Leigh Disease trials report? (10)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Pneumonia | 20 | 2 |
| Vomiting | 15 | 4 |
| Seizure | 14 | 2 |
| Acute respiratory failure | 12 | 2 |
| COVID-19 | 10 | 2 |
Showing 5 of 10 adverse events.
Which publications cover Leigh Disease? (19)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations. | Stem cell research | 2023 | Yes |
| 258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands. | Neuromuscular disorders : NMD | 2023 | Yes |
| Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis. | Molecular genetics and metabolism | 2022 | Yes |
| A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. | Journal of inherited metabolic disease | 2022 | Yes |
| Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. | Nature communications | 2021 | Yes |
Showing 5 of 19 publications.
Prevalence (12)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Leigh syndrome | Prevalence at birth | 1-9 / 100 000 | Europe | Not stated | Exact |
| Leigh syndrome | Point prevalence | Unknown | Worldwide | Not stated | Exact |
| Leigh syndrome | Annual incidence | 1-9 / 100 000 | Australia | Not stated | Unspecified |
| Leigh syndrome | Annual incidence | 1-9 / 100 000 | Australia | Not stated | Exact |
| Leigh syndrome | Point prevalence | Unknown | Worldwide | Not stated | Exact |
Showing 5 of 12 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Leigh syndrome | 506 | Exact | Orphadata Science knowledge files, Product 1 |
| Leigh syndrome | 506 | Exact | Orphanet Rare Disease Ontology (ORDO) |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: sub-conditions in mesh.