ORPHA:96
Ataxia with vitamin E deficiency
Also known as: AVED · Ataxia with isolated vitamin E deficiency · Familial isolated vitamin E deficiency · Friedreich-like ataxia · Isolated vitamin E deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
629
85.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,135
Distinct authors in sample
Gene link
TTPA
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by spino-cerebellar , loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
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:0010188
- MeSH:C535393
- OMIM:277460
- UMLS:C1848533
Additional Mondo synonyms (5)
Ataxia with Vitamin E Deficiency · ataxia with isolated vitamin E deficiency · familial isolated deficiency of vitamin type E · familial isolated vitamin E deficiency · isolated vitamin E deficiency
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TTPA
- LiteraturePresent
629 matched papers (312 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (TTPA).
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?
629
629 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.
629 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).
312 in the last 10 years · medium confidence · 85.4th percentile (publications denominator)
Phrase hits: 629 · MeSH hits: 0
Who's working on it?
1,135
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Azzi A7 papers · 2026
School of Graduate Biomedical Pharmacology and Drug Development Program, Tufts University, Boston, MA, USA. Electronic address: angelo.azzi@tufts.edu.
Papers in Europe PMC - 02Traber MG7 papers · 2026
Linus Pauling Institute, Corvallis, OR, USA; School of Biological and Population Health Sciences, College of Public Health and Human Sciences, Oregon State University, Corvallis, OR, USA. Electronic address: maret.traber@oregonstate.edu.
Papers in Europe PMC - 03Finno CJ6 papers · 2024
Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA, United States.
Papers in Europe PMC - 04Manor D6 papers · 2026
Division of Nutritional Sciences, Cornell University, Ithaca, New York 14853, USA.
Papers in Europe PMC - 05Synofzik M6 papers · 2025
From the Research Division Translational Genomics of Neurodegenerative Diseases (A.T., M. Synofzik), Hertie-Institute for Clinical Brain Research and Center of Neurology, and German Center for Neurodegenerative Diseases (DZNE) (A.T., M. Synofzik), University of Tübingen; Department of Neurology and German Center for Vertigo and Balance Disorders (F.H., A.Z., M. Strupp), University Hospital, Ludwig-Maximilians University, Munich, Germany; Department of Biochemistry (M.B.), Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Institute of Medical Genetics and Applied Genomics (A.M.H., D.R.), University of Tübingen, Germany; Department of Psychiatry and Psychotherapy (M.B., C.D., O.R., T.H.), Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Austria; and Center for Rare Diseases (C.D., O.R., T.H.), University of Tübingen, Germany.
Papers in Europe PMC - 06Atkinson J5 papers · 2026
Department of Chemistry and Centre for Biotechnology, Brock University, St. Catharines, L2S3A1, Ontario, Canada.
Papers in Europe PMC - 07Arai H4 papers · 2022
Graduate School of Pharmaceutical Sciences, The University of Tokyo.
Papers in Europe PMC - 08Miller AD4 papers · 2025
Department of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY 14853, USA.
Papers in Europe PMC - 09Agarwal A3 papers · 2026
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 10Brais B3 papers · 2025
Departments of Neurology and Neurosurgery and Human Genetics, Montreal Neurological Institute-Hospital, Faculty of Medicine, McGill University, University Street, Montreal, Quebec, 3801H3A 2B4, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Ataxia with vitamin E deficiency" OR "Ataxia with isolated vitamin E deficiency" OR "Familial isolated vitamin E deficiency" OR "Friedreich-like ataxia" OR "Isolated vitamin E deficiency" OR "familial isolated deficiency of vitamin type E" OR "familial isolated deficiency of the vitamin type E"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ataxia with vitamin E deficiency" OR "Ataxia with isolated vitamin E deficiency" OR "Familial isolated vitamin E deficiency" OR "Friedreich-like ataxia" OR "Isolated vitamin E deficiency" OR "familial isolated deficiency of vitamin type E" OR "familial isolated deficiency of the vitamin type E" OR "TTPA" OR "inborn vitamin metabolic disorder" OR "autosomal recessive metabolic cerebellar ataxia"
Recall-expansion terms: TTPA, inborn vitamin metabolic disorder, autosomal recessive metabolic cerebellar ataxia
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AVED
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:24:26.373Z