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ORPHA:48818

Aceruloplasminemia

low confidenceDisorder

Also known as: Hereditary ceruloplasmin deficiency

Publications

2,203

Trials

1

Interventional, condition-specific

Researchers

1,012

Distinct authors in sample

Gene link

CP

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia (often microcytic), visceral and brain iron accumulation, diabetes, various neurological symptoms and retinal degeneration.

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.

Additional Mondo synonyms (3)

aceruloplasminemia · hereditary ceruloplasmin deficiency · hypoceruloplasminemia, hereditary

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CP

  2. LiteraturePresent

    2,203 matched papers (1,475 in last 10 years) Source

  3. Phenotype characterisedPresent

    58 HPO annotations (e.g. Increased circulating ferritin concentration; Hypochromic microcytic anemia; Abnormal circulating enzyme concentration or activity) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  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?

Yes — we know a specific gene responsible (CP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

58

Associated phenotypes · MONDO:0011426

  • Increased circulating ferritin concentration
  • Hypochromic microcytic anemia
  • Abnormal circulating enzyme concentration or activity
  • Gait ataxia
  • Limb ataxia

Showing 5 of 58 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0011426

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,203

2,203 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.

2,203 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).

1,475 in the last 10 years · low confidence

Phrase hits: 962 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,012

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
    Alessio M8 papers · 2025

    Proteome Biochemistry, COSR-Centre for Omics Sciences, IRCCS-San Raffaele Hospital, Milano, Italy.

    Papers in Europe PMC
  2. 02
    Langendonk JG8 papers · 2022

    Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address: j.g.langendonk@erasmusmc.nl.

    Papers in Europe PMC
  3. 03
    Piperno A7 papers · 2024

    Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

    Papers in Europe PMC
  4. 04
    Vroegindeweij LHP7 papers · 2022

    Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address: l.vroegindeweij@erasmusmc.nl.

    Papers in Europe PMC
  5. 05
    Miyajima H6 papers · 2025

    First Department of Medicine, Hamamatsu University School of Medicine, Japan.

    Papers in Europe PMC
  6. 06
    Zanardi A6 papers · 2025

    Proteome Biochemistry, COSR-Centre for Omics Sciences, IRCCS-San Raffaele Hospital, Milano, Italy.

    Papers in Europe PMC
  7. 07
    Boon AJW5 papers · 2021

    Department of Neurology, Erasmus MC Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address: a.j.w.boon@erasmusmc.nl.

    Papers in Europe PMC
  8. 08
    Bossoni L5 papers · 2022

    C. J. Gorter Center for High field MRI, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  9. 09
    Conti A5 papers · 2025

    Proteome Biochemistry, COSR-Centre for Omics Sciences, IRCCS-San Raffaele Hospital, Milano, Italy.

    Papers in Europe PMC
  10. 10
    van der Weerd L5 papers · 2022

    C. J. Gorter Center for High field MRI, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.

    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 · last trial check 28 July 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).

low 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.

Observational and natural-history studies

1 observational study matches 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.

Recruiting or not-yet-recruiting

  • NCT05522374·RECRUITING·TIRCON International NBIA Registry

    Not reviewed·Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via name phrase

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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)

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 Aceruloplasminemia — 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.

("Aceruloplasminemia" OR "Hereditary ceruloplasmin deficiency" OR "hypoceruloplasminemia, hereditary") OR ("CP syndrome" OR "CP-related")

Run this search on Europe PMC

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

"Aceruloplasminemia" OR "Hereditary ceruloplasmin deficiency" OR "hypoceruloplasminemia, hereditary"

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 · 1 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2203) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:16:50.341Z