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ORPHA:772

Infantile Refsum disease

medium confidenceDisorder

Also known as: IRD · Mild PBD-ZSD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Publications

414

63th percentile

Trials

1

Interventional, condition-specific

Researchers

1,114

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by , retinitis pigmentosa, , sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and adrenoleukodystrophy (NALD).

How rare: How common this is has not been clearly measured.

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.”

2/6 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

    414 matched papers (145 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 designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

414

414 papers have ever been published on this condition (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=3967) is 59.

414 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).

145 in the last 10 years · medium confidence · 63th percentile (publications denominator)

Phrase hits: 414 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,114

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
    Wanders RJ16 papers · 2016

    Laboratory Genetic Metabolic Diseases University of Amsterdam, Amsterdam 1105 AZ, The Netherlands.

    Papers in Europe PMC
  2. 02
    Shimozawa N12 papers · 2023

    Department of Pediatrics, Gifu University School of Medicine, Tsukasa-machi 40, Gifu 500-8705, Japan. nshim@cc.gifu-u.ac.jp

    Papers in Europe PMC
  3. 03
    Waterham HR11 papers · 2021

    Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Fujiki Y9 papers · 2021

    Department of Biology, Faculty of Sciences, Kyushu University Graduate School Fukuoka, Japan.

    Papers in Europe PMC
  5. 05
    Poll-The BT7 papers · 2015

    Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl

    Papers in Europe PMC
  6. 06
    Suzuki Y7 papers · 2004

    Department of Pediatrics, Gifu University School of Medicine, Japan. ysuz@cc.gifu-u.ac.jp

    Papers in Europe PMC
  7. 07
    Ferdinandusse S6 papers · 2022

    Laboratory of Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl

    Papers in Europe PMC
  8. 08
    Gootjes J6 papers · 2004

    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Kondo N6 papers · 2003
    Papers in Europe PMC
  10. 10
    Braverman NE5 papers · 2023

    Department of Human Genetics, McGill University, Quebec, Canada. nancy.braverman@mcgill.ca

    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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Infantile Refsum disease — 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.

"Infantile Refsum disease" OR "Mild PBD-ZSD" OR "Mild peroxisome biogenesis disorder-Zellweger spectrum disorder"

Run this search on Europe PMC

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

"Infantile Refsum disease" OR "Mild PBD-ZSD" OR "Mild peroxisome biogenesis disorder-Zellweger spectrum disorder"

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 · 0 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: IRD

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 2026-07-26T15:18:07.107Z