ORPHA:86788
X-linked severe congenital neutropenia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
12,751,463
Trials
0
Interventional, condition-specific
Researchers
178
Distinct authors in sample
Gene link
WAS
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
X-linked severe neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked trait and is caused by mutations in the WAS gene, encoding the WASP protein.
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:0010294
- MeSH:C564539
- OMIM:300299
- UMLS:C1845987
Additional Mondo synonyms (2)
neutropenia, severe congenital, X-linked, X-linked recessive · severe congenital neutropenia, X-linked
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — WAS
- LiteraturePresent
12,751,463 matched papers (7,213,403 in last 10 years) Source
- Phenotype characterisedPresent
9 HPO annotations (e.g. Decreased total neutrophil count; Recurrent bacterial infections; Decreased total monocyte count) 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; 11 for broader category severe congenital neutropenia
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 (WAS).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
9
Associated phenotypes · MONDO:0010294
- Decreased total neutrophil count
- Recurrent bacterial infections
- Decreased total monocyte count
- Eczematoid dermatitis
Showing 4 of 9 — 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?
12,751,463
12,751,463 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
12,751,463 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).
7,213,403 in the last 10 years · low confidence
Phrase hits: 25 · MeSH hits: 0
Who's working on it?
178
Distinct author names in 25 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.
- 01George B2 papers · 2014
Department of Clinical Haematology, Christian Medical College and Hospital, Vellore, 632004 India.
Papers in Europe PMC - 02Abraham SM1 paper · 2021
Division of Hematology and Oncology, Department of Pediatrics, University of New Mexico, Albuquerque, NM.
Papers in Europe PMC - 03Abrahamsen TG1 paper · 2020
Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Papers in Europe PMC - 04Adhish M1 paper · 2023
School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, 632 014, India.
Papers in Europe PMC - 05Allen C1 paper · 2012Papers in Europe PMC
- 06Alme C1 paper · 2020
Department of Paediatric Haematology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Papers in Europe PMC - 07
- 08Ancliff PJ1 paper · 2009Papers in Europe PMC
- 09Aprikyan AA1 paper · 2012Papers in Europe PMC
- 10Bach A1 paper · 2021
Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
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). 11 trials are registered for severe congenital neutropenia, 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.
low 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.
11 interventional trials matched severe congenital neutropenia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: severe congenital neutropenia
11
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.
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 70 · after dedupe 69 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 69 · 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 (69)
- ctis·2024-519985-35-00·Authorised·Obinutuzumab for systemic lupus erythematosus pure membranous nephropathy: a phase II trial
(OBLUMEN)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524264-38-00·Authorised, ongoing·Phase IV, randomized, open label, parallel groups clinical trial for evaluating the early Stop of antibiotic Treatment in high-risk febrile neutropenic Oncohaematological Paediatric patients (e-STOP 2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521836-12-00·Authorised·Colchicine to Quench the Inflammatory Response after Deep Vein Thrombosis: The CONQUER-DVT Randomized Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524209-34-00·Authorised, ongoing·A Randomized, Multi-Center, Double-Blind, Phase III Study Evaluating the Efficacy and Safety of Hetrombopag Olamine Tablets vs Placebo in Patients with Chemotherapy-Induced Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2024-511807-41-01·Authorised·TIC-TAC-SAM « Comparison of two strategies of etoposide initiation in severe sporadic hemophagocytic lymphohistiocytosis in intensive care: a randomized trial »
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-521634-29-00·Authorised, ongoing·A Randomized, Open-labelled, Multicenter Trial Evaluating Efficacy and Safety of A Reduced Venetoclax Exposure To Seven Days Versus Standard Continuous Venetoclax Exposure Combined With Azacitidine in Treatment Naïve Subjects with Acute Myeloid Leukemia Who Are Ineligible for Intensive Induction (SEVENAZA)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521696-31-00·Authorised·DOSABEMA-Pharmacokinetic model of abemaciclib: correlation with severe diarrhea as the primary toxicity endpoint in patients with hormone receptor-positive localized breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-520128-27-00·Authorised, ongoing·BEvacizumab plus Trifluridine/tipiracil in a bi-WEEkly administration to reduce grade 3-4 Neutropenia in patients with mCRC: A prospective, multicenter, comparative, randomized GERCOR G-124 BETWEEN phase II study
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520473-40-00·Authorised, ongoing·A Multicentre, Parallel-group, Phase IIb, Randomised, Double blind, Placebo-controlled, 4-Arm, 24-Week Study to Evaluate the Efficacy and Safety of AZD6793 Tablets in Adult Participants with Moderate to Very Severe Chronic Obstructive Pulmonary Disease (PRESTO).
skipped — LLM skipped (--skip-llm)
- ctis·2025-521478-32-00·Authorised·ANAKINRA IN THE TREATMENT OF PEDIATRIC ACUTE MYOCARDITIS. ANAPEM
skipped — LLM skipped (--skip-llm)
- ctis·2025-520995-24-00·Authorised·Efficacy of an empirical treatment with Amoxicillin-clavulanate (AC) compared to the combination Amoxicillin-clavulanate and Ciprofloxacin (AC+C) in the outpatient care of chemotherapy-induced fever in adult haematology patients. AC-CIF Protocol
skipped — LLM skipped (--skip-llm)
- ctis·2024-519966-31-00·Authorised, ongoing·Phase I/IIa clinical trial with dose escalation to evaluate safety and efficacy of the infusion of CART84 in relapsed/refractory (R/R) acute myeloid leukemia (AML) and acute lymphoblastic T leukemia patients (T-ALL).
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·2024-515956-19-00·Authorised·TociCCAre - Randomized, double-blind, multicenter trial of tocilizumab versus placebo in chronic polyarticular inflammatory of calcium pyrophosphate deposition disease refractory to standard treatments
skipped — LLM skipped (--skip-llm)
- ctis·2025-520742-29-00·Authorised, ongoing·Efficacy and Safety Clinical Trial for Immune-Guided Prevention of CMV Infection in Low-Risk Kidney Transplantation.
(INMUNOVIR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520854-12-00·Authorised, ongoing·Use of tacrolimus and MTOR inhibitors with anticipatory therapy vs. tacrolimus and mycophenolic acid with universal prophylaxis in renal recipients at high risk of post-transplant cytomegalovirus. Phase IV clinical trial (TIMTOR STUDY).
skipped — LLM skipped (--skip-llm)
- ctis·2024-518369-92-00·Authorised, ongoing·A Long-term Follow-up Study for Subjects Previously Treated with Autologous ex vivo Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome (WAS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Authorised, ongoing·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-519009-36-01·Authorised·Use of pegfilgrastim in severe chronic neutropenia
skipped — LLM skipped (--skip-llm)
- ctis·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
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 X-linked severe congenital neutropenia — 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.
("X-linked severe congenital neutropenia" OR "neutropenia, severe congenital, X-linked, X-linked recessive" OR "severe congenital neutropenia, X-linked") OR (MESH:"Neutropenia, Severe Congenital, X-Linked") OR ("WAS syndrome" OR "WAS-related")MeSH descriptor terms unioned into the query: Neutropenia, Severe Congenital, X-Linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked severe congenital neutropenia" OR "neutropenia, severe congenital, X-linked, X-linked recessive" OR "severe congenital neutropenia, X-linked" OR "Neutropenia, Severe Congenital, X-Linked"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"severe congenital neutropenia"
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
- Publication count (12751463) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:04:47.649Z