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ORPHA:35069

PLA2G6-related neurodegeneration, infantile-onset

low confidenceDisorder

Also known as: INAD · Infantile neuroaxonal dystrophy · Infantile PLAN · Infantile phospholipase A2-associated neurodegeneration · Seitelberger disease · PLA2G6-associated neurodegeneration, infantile-onset

Publications

2,954

Trials

2

Interventional, condition-specific

Researchers

1,341

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegeneration with brain iron accumulation (NBIA) disorder characterized by global and eventual regression, increasing neurological involvement with symmetrical spastic tetraplegia, loss of cognitive and bulbar function, and optic atrophy. The form of PLAN, which has onset before three years of age, is most common relative to juvenile-onset and adult-onset forms, and individuals may present with symptoms anywhere along a continuum.

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

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,954 matched papers (1,963 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. 9-cis, 12-cis-11,11-D2-linoleic acid ethyl ester Source

  6. Interventional trialPresent

    2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

2

Designations · no FDA orphan-indication approval yet

  • EMA 9-cis, 12-cis-11,11-D2-linoleic acid ethyl esterTreatment of infantile neuroaxonal dystrophy · 26/02/2019 · PositiveEMA designation
  • EMA adeno-associated viral vector serotype 9 containing the human PLA2G6 geneTreatment of infantile neuroaxonal dystrophy · 10/12/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,954

2,954 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=3967) is 59.

2,954 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,963 in the last 10 years · low confidence

Phrase hits: 661 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,341

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.

  1. 01
    Hayflick SJ6 papers · 2026

    Departments of Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, OR, United States. Electronic address: hayflick@ohsu.edu.

    Papers in Europe PMC
  2. 02
    Kurian MA6 papers · 2025

    Molecular Neurosciences Developmental Neurosciences UCL-Institute of Child Health London United Kingdom.

    Papers in Europe PMC
  3. 03
    Panwala L6 papers · 2025

    INADcure Foundation, Fairfield, NJ, United States.

    Papers in Europe PMC
  4. 04
    Bellen HJ5 papers · 2023

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

    Papers in Europe PMC
  5. 05
    Hogarth P5 papers · 2026

    Departments of Molecular and Medical Genetics and Neurology, Oregon Health and Science University, Portland, OR, United States.

    Papers in Europe PMC
  6. 06
    Hope A5 papers · 2025

    INADcure Foundation, Jersey City, United States.

    Papers in Europe PMC
  7. 07
    Liu Y5 papers · 2026

    F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  8. 08
    Midei M5 papers · 2020

    Retrotope Inc., Los Altos, CA, USA.

    Papers in Europe PMC
  9. 09
    Milner P5 papers · 2020

    Retrotope Inc., Los Altos, CA, USA.

    Papers in Europe PMC
  10. 10
    Wang J5 papers · 2026

    State Key Laboratory of Medical Neurobiology, Department of Neurology and National Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (12)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for PLA2G6-related neurodegeneration, infantile-onset — check Associations / patient organisations on that page.

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.

("PLA2G6-related neurodegeneration, infantile-onset" OR "Infantile neuroaxonal dystrophy" OR "Infantile PLAN" OR "Infantile phospholipase A2-associated neurodegeneration" OR "Seitelberger disease" OR "PLA2G6-associated neurodegeneration, infantile-onset") OR ("PLA2G6" OR "PLA2G6 syndrome" OR "PLA2G6-related")

Run this search on Europe PMC

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

"PLA2G6-related neurodegeneration, infantile-onset" OR "Infantile neuroaxonal dystrophy" OR "Infantile PLAN" OR "Infantile phospholipase A2-associated neurodegeneration" OR "Seitelberger disease" OR "PLA2G6-associated neurodegeneration, infantile-onset"

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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: INAD

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
  • Publication count (2954) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:43:02.612Z