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ORPHA:543470

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

high confidenceDisorder

Publications

1

7th percentile

Trials

0

Interventional, condition-specific

Researchers

15

Distinct authors in sample

Gene link

FDXR

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disease characterized by a variable clinical with the core features of optic atrophy, , and . Additional common manifestations include global with or without regression, , spasticity, and microcephaly, less frequently , movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — FDXR

  2. LiteraturePresent

    1 matched papers (1 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 779 for broader category peripheral neuropathy

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 (FDXR).

GenCC classification: Strong.

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

1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1 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).

1 in the last 10 years · high confidence · 7th percentile (publications denominator)

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

15

Distinct author names in 1 sampled paper — 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.

  1. 01
    Alonso-Riaño M1 paper · 2024

    Pathology Department, 12 de Octubre University Hospital, Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Campbell TM1 paper · 2024

    Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.

    Papers in Europe PMC
  3. 03
    du Toit T1 paper · 2024

    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.

    Papers in Europe PMC
  4. 04
    Flück CE1 paper · 2024

    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.

    Papers in Europe PMC
  5. 05
    Gómez Cano MÁ1 paper · 2024

    Department of Pediatrics, Endocrinology Unit, and.

    Papers in Europe PMC
  6. 06
    Huang T1 paper · 2024

    Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.

    Papers in Europe PMC
  7. 07
    Longo N1 paper · 2024

    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

    Papers in Europe PMC
  8. 08
    Martínez-Azorín F1 paper · 2024

    Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre (imas12), E-28041 Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Neilson DE1 paper · 2024

    Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, Arizona, USA.

    Papers in Europe PMC
  10. 10
    Pandey AV1 paper · 2024

    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.

    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. 779 trials are registered for peripheral neuropathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

779 interventional trials matched peripheral neuropathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: peripheral neuropathy

779

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" OR "FDXR" OR "hereditary peripheral neuropathy" OR "FDXR-related optic atrophy mitochondrial dysfunction syndrome"

Recall-expansion terms: FDXR, hereditary peripheral neuropathy, FDXR-related optic atrophy mitochondrial dysfunction syndrome

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"peripheral neuropathy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T18:16:13.690Z