ORPHA:538096
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5
2.3th percentile
Trials
0
Interventional, condition-specific
Researchers
17
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, axonal motor and sensory disease characterized by onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular , rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011463
- MeSH:C565773
- OMIM:604431
- UMLS:C1858353
Additional Mondo synonyms (1)
polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5 matched papers (0 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
5
5 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.
5 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).
0 in the last 10 years · high confidence · 2.3th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
17
Distinct author names in 5 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.
- 01Sobue G2 papers · 1995
Department of Neurology, Nagoya University School of Medicine, Japan.
Papers in Europe PMC - 02Benecke R1 paper · 1991Papers in Europe PMC
- 03Chu CC1 paper · 2002
Department of Neurology, Chang Gung Memorial Hospital and Medical College, Taipei, Taiwan.
Papers in Europe PMC - 04Hashizume Y1 paper · 1994Papers in Europe PMC
- 05
- 06Heidenreich F1 paper · 1991Papers in Europe PMC
- 07Huang CC1 paper · 2002Papers in Europe PMC
- 08Jockusch H1 paper · 1991Papers in Europe PMC
- 09Kaupmann K1 paper · 1991
Developmental Biology Unit, University of Bielefeld, POB 8640, D(W)-4800 Bielefeld 1, FRG.
Papers in Europe PMC - 10Kuo HC1 paper · 2002Papers 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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 38 · after dedupe 37 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 37 · 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 (37)
- ctis·2025-522544-40-00·Authorised, ongoing·TRITON-PN: A Phase 3, Global, Randomized, Open-Label Study to Evaluate the Efficacy and Safety of Nucresiran in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy (hATTR-PN)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521985-82-00·Authorised·Efficacy and safety of a combined therapy with Alpha-Lipoic Acid and Benfotiamine in the symptomatic treatment of diabetic sensorimotor polyneuropathy - a prospective, randomized, controlled, parallel group, double-blind, double-dummy 3-arm trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-520805-10-00·Authorised, recruiting·A Phase 3, Randomized, Double-Blinded, Placebo-Controlled Study Evaluating the Efficacy and Safety of Empasiprubart IV in Adults With Chronic Inflammatory Demyelinating Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-523091-23-00·Authorised, ongoing·ZANUBRUTINIB, A SECOND GENERATION BTK INHIBITOR, IN ANTI-MAG ANTIBODY NEUROPATHY: A PHASE II ITALIAN MULTICENTER CLINICAL TRIAL (MAZINGA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-520097-36-00·Authorised, recruiting·A Phase 3, Randomized, Double-Blinded, Double-Dummy Study Evaluating the Efficacy and Safety of Intravenous Empasiprubart Versus Intravenous Immunoglobulin in Adults With Chronic Inflammatory Demyelinating Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517614-14-00·Authorised, ongoing·A Phase 2b, Multi-center, Randomized, Double-blind, Placebo controlled Study of IMVT-1402 Treatment in Adult Participants with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-517529-26-00·Authorised, ongoing·A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of DNTH103 in Adults with Chronic Inflammatory Demyelinating Polyneuropathy (CAPTIVATE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513435-24-01·Cancelled·J4F-MC-CYAB: A Phase 2, Randomized, Double-Blind, Placebo Controlled, Dose-Finding Study Evaluating LY3848575 in Chronic Neuropathic Pain Associated With Distal Sensory Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517032-22-00·Authorised, recruiting·Long-term extension study to evaluate the safety and efficacy of riliprubart (SAR445088) in participants with chronic inflammatory demyelinating polyneuropathy (CIDP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515386-34-00·Cancelled·A Phase 2, Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of Intravenous NVG-2089 in Participants with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518364-12-00·Cancelled·An Open-Label Extension Study to Assess Long-term Safety and Tolerability of Batoclimab in Adult Participants with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513547-82-00·Authorised, ongoing·A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled Study of Acoramidis for Transthyretin Amyloidosis Prevention in the Young (ACT-EARLY Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512276-35-00·Authorised, ongoing·Selinexor with alternating bortezomib or lenalidomide plus dexamethasone in transplant ineligible newly diagnosed multiple myeloma patients (SABLe): An Investigator Sponsored Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515898-96-01·Cancelled·Randomized, parallel study of subcutaneous versus intravenous immunoglobulin in treatment-naïve patients with chronic inflammatory demyelinating polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-512646-42-00·Cancelled·A Phase 2b, Multi-center, Randomized, Quadruple-blind, Placebo-controlled Study of Batoclimab Treatment in Adult Participants with Active Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512506-25-00·Authorised, ongoing·Rituximab-induced remission in CIDP (ReCIX study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511170-69-00·Cancelled·Phase 1 Two-Part (Open-label, Single Ascending Dose (Part 1) and Open-label, Single Dose Expansion (Part 2)) Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511201-32-00·Authorised, ongoing·An Open-label, Extension Study to Assess the Long-Term Safety and Efficacy of ION-682884 in Patients with Hereditary Transthyretin-Mediated Amyloid Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-511008-17-00·Cancelled·(LAX) A Randomized, open label, Non-inferiority trial on the efficacy of Lacosamide versus Duloxetine in Patients with Chemotherapy-induced Polyneuropathy - A strategy trial
skipped — LLM skipped (--skip-llm)
- ctis·2023-508338-33-00·Authorised, ongoing·A Phase 3, randomized, double-blind study evaluating efficacy and safety of riliprubart versus intravenous immunoglobulin (IVIg) in participants with chronic inflammatory demyelinating polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514494-21-00·Authorised, ongoing·A Multicenter Randomized, Controlled, Double-blinded Trial to Evaluate Efficacy and Safety of Bortezomib in Patients With Severe Autoimmune Encephalitis
skipped — LLM skipped (--skip-llm)
- ctis·2024-512345-16-00·Cancelled·A Phase 2, multicenter, open-label, non-randomized, proof-of-concept study evaluating the efficacy, safety, and tolerability of SAR445088 in adults with chronic inflammatory demyelinating polyneuropathy (CIDP)
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 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy — 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.
"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy" OR "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive"
MeSH descriptor terms unioned into the query: Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy" OR "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T18:11:13.428Z