ORPHA:206448
Adult Krabbe disease
Publications
15
28.2th percentile
Trials
0
Interventional, condition-specific
Researchers
90
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016091
- UMLS:C0268252
Additional Mondo synonyms (1)
Krabbe disease of adults
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
15 matched papers (10 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Babinski sign; Hyperactive deep tendon reflexes; Progressive spastic paraparesis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 6 for broader category Krabbe disease
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)
45
Associated phenotypes · MONDO:0016091
- Babinski sign
- Hyperactive deep tendon reflexes
- Progressive spastic paraparesis
- CNS demyelination
- Mental deterioration
Showing 5 of 45 — open Monarch for the full list.
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 2026-07-27
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?
15
15 papers have ever been indexed 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.
15 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).
10 in the last 10 years · high confidence · 28.2th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
90
Distinct author names in 15 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sakai N3 papers · 2024
Child Healthcare and Genetic Science Laboratory, Division of Health Science, Osaka University Graduate School of Medicine, Osaka, Japan.
Papers in Europe PMC - 02Laule C2 papers · 2018
Department of Radiology, University of British Columbia, Vancouver, BC, V6T 2B5 Canada. claule@physics.ubc.ca
Papers in Europe PMC - 03MacKay AL2 papers · 2018
Department of Radiology, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 04Shukla PK2 papers · 2025
Department of Computer Science & Engineering , University Institute of Technology, Rajiv Gandhi Proudyogiki Vishwavidyalaya (State Technological University), Bhopal, Madhya Pradesh, India.
Papers in Europe PMC - 05Vavasour IM2 papers · 2018
Department of Radiology, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 06Abugabah A1 paper · 2025
College of Technological Innovation, Zayed University, Abu Dhabi, United Arab Emirates.
Papers in Europe PMC - 07Al-Khenaizan S1 paper · 2019
King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Department of Dermatology, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Alfadhel M1 paper · 2019
King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Attems J1 paper · 2026
Translational and Clinical Research Institute, Newcastle University, Newcastle, UK.
Papers in Europe PMC - 10Aubourg P1 paper · 2013Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 6 trials are registered for Krabbe disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
6 interventional trials matched Krabbe disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Krabbe disease
6
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
- NCT07740512·NOT YET RECRUITING·Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
Conditions: Lysosomal Storage Disorders · Sandhoff Disease · Krabbe Disease · CLN2·Matched via name phrase
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 2026-07-27
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 Adult Krabbe disease — check Associations / patient organisations on that page.
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.
"Adult Krabbe disease" OR "Krabbe disease of adults"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adult Krabbe disease" OR "Krabbe disease of adults" OR "Krabbe disease of the adults"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Krabbe disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T02:16:19.236Z