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ORPHA:99027

Adult-onset autosomal dominant leukodystrophy

medium confidenceDisorder

Also known as: ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Publications

146

57.1th percentile

Trials

1

Interventional, condition-specific

Researchers

842

Distinct authors in sample

Gene link

LMNB1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, slowly neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, and mild cognitive impairment.

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)

adult-onset autosomal dominant demyelinating leukodystrophy · adult-onset autosomal dominant leukodystrophy · leukodystrophy, adult-onset, autosomal dominant

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 identifiedPresent

    Strong — LMNB1

  2. LiteraturePresent

    146 matched papers (60 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 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 (LMNB1).

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?

146

146 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=5449) is 41.

146 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).

60 in the last 10 years · medium confidence · 57.1th percentile (publications denominator)

Phrase hits: 145 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

842

Distinct author names in 146 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
    Cortelli P9 papers · 2021

    Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto delle Scienze Neurologiche di Bologna, Clinica Neurologica, Ospedale Bellaria, Bologna, Italy; and Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Capellari S7 papers · 2018

    Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto delle Scienze Neurologiche di Bologna, Clinica Neurologica, Ospedale Bellaria, Bologna, Italy; and Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  3. 03
    Fu YH7 papers · 2014

    Department of Neurology, University of California, 1550 Fourth street, UCSF-Mission Bay, Rock Hall 548, San Francisco, CA 94158, USA. ying-hui.fu@ucsf.edu.

    Papers in Europe PMC
  4. 04
    Melberg A7 papers · 2015

    Department of Neuroscience and Neurology, Uppsala University, Uppsala, Sweden.

    Papers in Europe PMC
  5. 05
    Gasparini L6 papers · 2018

    Dept. of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy. laura.gasparini@abbvie.com.

    Papers in Europe PMC
  6. 06
    Raininko R6 papers · 2015

    Department of Radiology, Uppsala University, Uppsala, Sweden.

    Papers in Europe PMC
  7. 07
    Lin ST5 papers · 2014

    Department of Neurology and Howard Hughes Medical Institute, University of California, San Francisco, CA 94158.

    Papers in Europe PMC
  8. 08
    Worman HJ5 papers · 2014

    Department of Medicine, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. hjw14@columbia.edu

    Papers in Europe PMC
  9. 09
    Adam SA4 papers · 2015

    Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  10. 10
    Brusco A4 papers · 2015

    Department of Medical Sciences, University of Torino, Torino 10126, Italy, Città della Salute e della Scienza, University Hospital, Medical Genetics Unit, Torino 10126, Italy.

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

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.

Broader category: leukodystrophy

30

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

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.

"Adult-onset autosomal dominant leukodystrophy" OR "Adult-onset autosomal dominant demyelinating leukodystrophy" OR "leukodystrophy, adult-onset, autosomal dominant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

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

"Adult-onset autosomal dominant leukodystrophy" OR "Adult-onset autosomal dominant demyelinating leukodystrophy" OR "leukodystrophy, adult-onset, autosomal dominant" OR "Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant" OR "LMNB1"

Recall-expansion terms: LMNB1

Interventional trials matched via: recall-expansion (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.

Parent-category trials query:

"leukodystrophy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ADLD

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 2026-07-27T05:54:14.369Z