ORPHA:726
Alpers-Huttenlocher syndrome
Also known as: Alpers progressive sclerosing poliodystrophy · Alpers syndrome · Progressive neuronal degeneration of childhood with liver disease
Publications
1,278
91.7th percentile
Trials
1
Interventional, condition-specific
Researchers
1,248
Distinct authors in sample
Gene link
POLG
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A cerebrohepatopathy and a rare and severe form of DNA (mtDNA) depletion syndrome characterized by the triad of developmental regression, intractable , and hepatic failure.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008758
- OMIM:203700
- UMLS:C0205710
- NCIT:C35257
Additional Mondo synonyms (14)
AHD · AHS · Alper syndrome · Alper's disease · Alper's syndrome · Alpers Disease · Alpers Huttenlocher disease · Alpers Huttenlocher syndrome · Alpers disease · Alpers progressive infantile poliodystrophy · Alpers-Huttenlocher · mitochondrial DNA depletion syndrome 4A · mitochondrial DNA depletion syndrome type 4a · progressive neuronal degeneration of childhood with liver disease
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — POLG
- LiteraturePresent
1,278 matched papers (662 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (POLG).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,278
1,278 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,278 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
662 in the last 10 years · medium confidence · 91.7th percentile (publications denominator)
Phrase hits: 1,278 · MeSH hits: 0
Who's working on it?
1,248
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Finsterer J9 papers · 2025
Danube University Krems, Krems, Austria. fifigs1@yahoo.de
Papers in Europe PMC - 02Copeland WC6 papers · 2025
Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), NIH, Research Triangle Park, NC 27709, USA.
Papers in Europe PMC - 03Saneto RP6 papers · 2025
Center for Integrative Brain Research, Neuroscience Institute, Seattle, WA 98101, USA.
Papers in Europe PMC - 04
- 05Cohen BH4 papers · 2025
Department of Pediatrics, Children's Hospital Medical Center of Akron and Northeast Ohio Medical University, Akron, OH, USA.
Papers in Europe PMC - 06Gorman GS4 papers · 2025
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle United Kingdom.
Papers in Europe PMC - 07McFarland R4 papers · 2025
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle United Kingdom.
Papers in Europe PMC - 08Rahman S4 papers · 2021
Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, United Kingdom.
Papers in Europe PMC - 09Chen A3 papers · 2026
Department of Neurosurgery, Xinhua Hospital Affiliated with Shanghai Jiaotong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 10Chen S3 papers · 2025
Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Alpers-Huttenlocher syndrome" OR "Alpers progressive sclerosing poliodystrophy" OR "Alpers syndrome" OR "Progressive neuronal degeneration of childhood with liver disease" OR "Progressive neuronal degeneration of the childhood with liver disease" OR "Alper syndrome" OR "Alper's disease" OR "Alper's syndrome" OR "Alpers Disease" OR "Alpers Huttenlocher disease" OR "Alpers Huttenlocher syndrome" OR "Alpers progressive infantile poliodystrophy" OR "Alpers-Huttenlocher" OR "mitochondrial DNA depletion syndrome 4A" OR "mitochondrial DNA depletion syndrome type 4a"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alpers-Huttenlocher syndrome" OR "Alpers progressive sclerosing poliodystrophy" OR "Alpers syndrome" OR "Progressive neuronal degeneration of childhood with liver disease" OR "Progressive neuronal degeneration of the childhood with liver disease" OR "Alper syndrome" OR "Alper's disease" OR "Alper's syndrome" OR "Alpers Disease" OR "Alpers Huttenlocher disease" OR "Alpers Huttenlocher syndrome" OR "Alpers progressive infantile poliodystrophy" OR "Alpers-Huttenlocher" OR "mitochondrial DNA depletion syndrome 4A" OR "mitochondrial DNA depletion syndrome type 4a" OR "POLG"
Recall-expansion terms: POLG
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AHD; AHS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:03:53.653Z