ORPHA:44
Neonatal adrenoleukodystrophy
Also known as: Intermediate PBD-ZSD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder · NALD
Publications
552
74.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,248
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by , leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and Refsum disease (IRD).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018598
- NCIT:C99251
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
552 matched papers (159 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 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)
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?
552
552 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.
552 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).
159 in the last 10 years · medium confidence · 74.9th percentile (publications denominator)
Phrase hits: 552 · MeSH hits: 0
Who's working on it?
1,248
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.
- 01Wanders RJ13 papers · 2016
Department of Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands. r.j.wanders@amc.uva.nl
Papers in Europe PMC - 02Waterham HR11 papers · 2021
Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Ferdinandusse S8 papers · 2022
Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Shimozawa N8 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 - 05Fujiki Y6 papers · 2021
Department of Biology, Faculty of Sciences, Kyushu University Graduate School Fukuoka, Japan.
Papers in Europe PMC - 06Poll-The BT5 papers · 2015
Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl
Papers in Europe PMC - 07Suzuki Y5 papers · 2005Papers in Europe PMC
- 08Braverman NE4 papers · 2023
Department of Human Genetics, McGill University, Quebec, Canada. nancy.braverman@mcgill.ca
Papers in Europe PMC - 09Gootjes J4 papers · 2004
Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 10Kondo N4 papers · 2005Papers 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
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.
"Neonatal adrenoleukodystrophy" OR "Intermediate PBD-ZSD" OR "Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal adrenoleukodystrophy" OR "Intermediate PBD-ZSD" OR "Intermediate 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: NALD
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 2026-07-26T12:12:38.991Z