ORPHA:206443
Late-infantile/juvenile Krabbe disease
Also known as: Krabbe disease, late-onset
Publications
1
8th percentile
Trials
0
Interventional, condition-specific
Researchers
5
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.
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
1 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
47 HPO annotations (e.g. Slurred speech; Pes cavus; Acroparesthesia) 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)
47
Associated phenotypes · MONDO:0016090
- Slurred speech
- Pes cavus
- Acroparesthesia
- Irritability
- Increased CSF protein concentration
Showing 5 of 47 — 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 2026-07-29
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?
1
1 paper 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.
1 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 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
5
Distinct author names in 1 sampled paper — 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.
- 01Ashbaugh L1 paper · 2021
Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62671, USA.
Papers in Europe PMC - 02Balster F1 paper · 2021
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Papers in Europe PMC - 03Basheeruddin K1 paper · 2021
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Papers in Europe PMC - 04Gardley P1 paper · 2021
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Papers in Europe PMC - 05Shao R1 paper · 2021
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Papers 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 11 September 2026 · last trial check 11 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 27 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · dropped 0 · fetched 2026-07-30
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 (26)
- ctis·2025-524082-25-00·Authorised·A Phase 1b/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-520842-31-00·Authorised·ANTIPROM - Comparison of two prophylactic antibiotic regimens in case of preterm prelabor rupture of membranes before 34 weeks of gestation: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523284-37-00·Authorised, ongoing·CHARACTERIZATION OF ASTROCYTE REACTIVITY WITH [18F]F-DED PET IN NEURODEGENERATIVE DISEASES
skipped — LLM skipped (--skip-llm)
- ctis·2025-522146-40-00·Authorised, ongoing·A phase 2, multicenter, randomized, placebo-controlled, double-blind study to investigate the safety, pharmacodynamics, and preliminary efficacy of S-606001 as an add-on to enzyme replacement therapy in patients with late-onset Pompe disease.
skipped — LLM skipped (--skip-llm)
- ctis·2022-503070-36-00·Authorised, ongoing·C1091009 - A PHASE 3, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLINDED TRIAL TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A MULTIVALENT GROUP B STREPTOCOCCUS VACCINE IN HEALTHY PREGNANT WOMEN AND THEIR INFANTS
skipped — LLM skipped (--skip-llm)
- ctis·2025-521497-34-00·Authorised, ongoing·Long-term follow-up of patients treated with GD2IL18CART
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-511340-29-02·Cancelled·Impact of peri-operative tEstosterone levels oN Functional and oncological Outcomes following RadiCal prostatEctomy (ENFORCE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516566-11-00·Expired·Impact of microglial activation on synaptic density in Alzheimer’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-514255-15-01·Authorised, ongoing·Open label, single-center pilot study to investigate enzyme replacement therapy (ERT) frequency reduction from 2 to 4 weeks in a subgroup of elderly patients with late-onset Pompe disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-517102-29-00·Authorised, ongoing·A Multi-center, Double-Blind, Randomized, Two-Arm, Parallel-Group, Placebo Controlled Study to Assess the Safety of ELGN-2112 in Populations of Interest
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511898-30-00·Cancelled·Impact of post-Acute respiratory distress syndrome COVID sedation on late neuroinflammation (PET-DEXDOCOVID)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514337-38-00·Expired·A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8 (AAV8)-mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients with Late-onset OTC Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-515356-21-00·Cancelled·GFM-EPO-PRETAR: A randomized trial testing early versus late onset of EPO alfa treatment in lower risk MDS with non RBC transfusion dependent anemia and without del 5q
skipped — LLM skipped (--skip-llm)
- ctis·2023-509303-32-00·Authorised, recruiting·Phase 1/2 Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-514773-22-00·Expired·A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France
skipped — LLM skipped (--skip-llm)
- ctis·2023-505170-15-00·Expired·A Phase 3 Open-label Extension Study to Assess the Long-term Safety and Efficacy of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late-onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-512004-19-01·Authorised, ongoing·The NIPA study: A randomized double-blind control clinical trial Naloxegol administration to prevent opioids induced gastrointestinal motility disturbance in brain Injured PAtients.
skipped — LLM skipped (--skip-llm)
- ctis·2023-505832-36-01·Cancelled·OPEN-LABEL EXTENSION STUDY TO ASSESS THE SAFETY AND LONG-TERM EFFECTIVENESS OF ORALLY ADMINISTERED EFAVIRENZ IN PATIENTS DIAGNOSED WITH ADULT OR LATE-ONSET JUVENILE TYPE C NIEMANN-PICK DISEASE WITH COGNITIVE IMPAIRMENT
skipped — LLM skipped (--skip-llm)
- ctis·2023-507041-28-00·Authorised, ongoing·Long-term Follow-up Study for Participants of Kite-Sponsored Interventional Studies Treated With Gene-Modified Cells
skipped — LLM skipped (--skip-llm)
- ctis·2022-501648-14-00·Authorised, ongoing·Long-Term Follow-up of Patients Treated with Miltenyi Cell and Gene Therapies
skipped — LLM skipped (--skip-llm)
- ctis·2023-503705-10-00·Authorised, ongoing·Patient- and care-related benefits of amyloid PET imaging (ENABLE)
skipped — LLM skipped (--skip-llm)
- ctis·2022-502547-36-00·Cancelled·An Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Pediatric Subjects Aged 0 to < 18 Years with Late-onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-504900-28-00·11·A Phase 1/2 Clinical Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation (RESKUE)
skipped — LLM skipped (--skip-llm)
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 Late-infantile/juvenile 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.
"Late-infantile/juvenile Krabbe disease" OR "Krabbe disease, late-onset"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Late-infantile/juvenile Krabbe disease" OR "Krabbe disease, late-onset"
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 2026-07-27T09:16:48.624Z