ORPHA:209370
MECP2-related severe neonatal encephalopathy
Also known as: Severe congenital encephalopathy due to MECP2 mutation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17,365
Trials
0
Interventional, condition-specific
Researchers
75
Distinct authors in sample
Gene link
MECP2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Severe -onset with microcephaly is a rare monogenic disease with characterized by -onset , microcephaly, severe or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable , abnormal muscle tone and involuntary movements. Early death is usual.
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:0010397
- MeSH:C566878
- OMIM:300673
- UMLS:C1968556
- NCIT:C132293
Additional Mondo synonyms (3)
encephalopathy, neonatal severe, X-linked recessive · severe congenital encephalopathy due to MECP2 mutation · severe neonatal encephalopathy due to MECP2 mutations
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MECP2
- LiteraturePresent
17,365 matched papers (10,306 in last 10 years) Source
- Phenotype characterisedPresent
37 HPO annotations (e.g. Polymicrogyria; Multifocal epileptiform discharges; Encephalopathy) 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 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?
Yes — we know a specific gene responsible (MECP2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
37
Associated phenotypes · MONDO:0010397
- Polymicrogyria
- Multifocal epileptiform discharges
- Encephalopathy
- Respiratory insufficiency
- Apnea
Showing 5 of 37 — 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?
17,365
17,365 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.
17,365 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).
10,306 in the last 10 years · low confidence
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
75
Distinct author names in 12 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.
- 01Gorman M2 papers · 2006Papers in Europe PMC
- 02van Hoff J2 papers · 2006Papers in Europe PMC
- 03Ahmad-Molaei L1 paper · 2020
Neuroscience Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 04Anegon I1 paper · 2021
CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, Université de Nantes, Nantes, France.
Papers in Europe PMC - 05Armstrong DMM1 paper · 2023
Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 06Arvio M1 paper · 2021
Neurology Päijät-Häme Joint Municipal Authority Lahti Finland.
Papers in Europe PMC - 07Baehring J1 paper · 2006Papers in Europe PMC
- 08Baehring JM1 paper · 2006Papers in Europe PMC
- 09Bjelogrlić N1 paper · 2025
Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Papers in Europe PMC - 10Buhrfiend CM1 paper · 2023
Department of Pediatrics, Rush University Medical College, Chicago, IL, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 54 · after dedupe 53 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 53 · 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 (53)
- ctis·2026-526167-38-00·Authorised·ALBUMINUS: Dose reduction of human albumin during large-volume paracentesis in patients with cirrhosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524876-43-00·Authorised·HO183 CAR T: A phase III randomized trial comparing academically produced BCMA-directed CAR T-cells (ARI0002h) with standard of care regimen in patients with relapsed/refractory multiple myeloma
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·2025-523149-80-00·Authorised·KARMA - INtenSive care TreAtmeNT with adjuvant KetAmine and Recovery after Mechanical ventilAtion: a multicenter doubleblind randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522674-36-00·Authorised, ongoing·N1T-MC-MALO: A Master Protocol for a Randomized, Controlled, Clinical Trial of Multiple Pharmacologic Agents in Adult Participants With Metabolic Dysfunction-Associated Steatotic Liver Disease Who Are at Increased Risk of Developing Major Adverse Liver Outcomes (SYNERGY-Outcomes); N1T-MC-TZ01 Tirzepatide in participants with high-risk MASLD; N1T-MC-RT01 Retatrutide in participants with high-risk MASLD
skipped — LLM skipped (--skip-llm)
- ctis·2025-520538-49-00·Authorised·ACUMEN: Phase I Dose Escalation and Cohort Expansion study to affirm the safety of pharmacological doses of a novel formulation of intravenous melatonin in babies with hypoxic-ischaemic encephalopathy (HIE) to augment therapeutic hypothermia (HT) treatment; to reduce the incidence and severity of disability in babies with moderate-severe HIE.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521029-34-00·Cancelled·A Phase 2, Randomized, Controlled, Open Label, Adaptive Dose Design, Proof-of-Concept Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Two Different Dwell Times of VS-01 on Top of Standard of Care versus Standard of Care Alone in Patients with Overt Hepatic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521701-41-00·Authorised, ongoing·Darbepoetin in patients candidates for liver transplant: randomized clinical trial (EPO_LT trial)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521455-23-00·Authorised, ongoing·Evaluation of safety, side effects and how the drug CHF6467 administrated via intranasal route is absorbed, modified and removed in healthy subjects.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513332-17-00·Authorised, ongoing·A Phase Ib/II first-in-human, multicentre, open-label, multiple ascending dose study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamic effect of intrathecal S230815 in paediatric participants with KCNT1-related Developmental and Epileptic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519783-41-00·Authorised·Early optimization of ceftazidine dosing regimen in critical care : FORTOPTIM_1
skipped — LLM skipped (--skip-llm)
- ctis·2024-515598-82-00·Authorised, recruiting·A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-516525-31-01·Authorised, recruiting·AFFIRM: A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Effect of Seladelpar on Clinical Outcomes in Patients with Primary Biliary Cholangitis (PBC) and Compensated Cirrhosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-514974-39-00·Authorised, ongoing·A Phase 3, Open-Label Study to Investigate the Long-Term Safety and Efficacy of LP352 in the Treatment of Seizures in Children and Adults with Developmental and Epileptic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-516412-17-00·Expired·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults with Developmental and
Epileptic Encephalopathies
skipped — LLM skipped (--skip-llm)
- ctis·2023-507771-22-01·Cancelled·A Phase 3, Open-Label, Long-Term Safety Extension Study Evaluating the Safety and Tolerability of the Fixed-Dose Combination of Obeticholic Acid and Bezafibrate in Subjects with Primary Biliary Cholangitis
skipped — LLM skipped (--skip-llm)
- ctis·2024-511663-28-00·Authorised, ongoing·Effect of long-term carvedilol to prevent decompensation or death in patients with asymptomatic Child-Pugh A5 to B8 cirrhosis and clinically significant portal hypertension: a multicenter, double-blind, randomized controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2023-509151-13-00·Authorised, ongoing·Fecal Microbiome Transplantation in Cirrhosis. Randomized, Double-blinded, Placebo-Controlled trial in patients with decompensated cirrhosis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519227-22-00·Cancelled·Fedratinib in Combination with CC-486, a Hypomethylating Agent, in Patients with Accelerated Phase Myelofibrosis - FAMy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518003-22-00·Expired·A Single Group Treatment, Phase 2 study to investigate Pharmacokinetics, Safety and Tolerability of Cefepime-Enmetazobactam administered by intra-venous infusion over 2 hours in Male or Female Participants from birth to less than 18 years of age hospitalized with complicated urinary tract infections (cUTI) including Acute Pyelonephritis (AP).
skipped — LLM skipped (--skip-llm)
- ctis·2024-517675-20-00·Authorised, ongoing·Oxytocin versus Prostaglandins for labor Induction of women with an unfavorable Cervix after 24 hours of cervical ripening: a multicenter non inferiority randomized trial (OPIC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513352-15-00·Authorised, ongoing·Norfloxacin for amelioration of portal hypertension in decompensated cirrhosis - a randomized, placebo-controlled, double-blinded clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2023-508928-35-00·Authorised·SHINE trial - Effect of Sildenafil in association to Hypothermia on survival without brain lesions In term Neonates with hypoxic-ischemic Encephalopathy: a randomized, double-blinded, placebo-controlled, multicenter trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516849-39-01·Authorised·BICCS - Beta-lactam Intermittent versus Continuous infusion and Combination antibiotic therapy in Sepsis
skipped — LLM skipped (--skip-llm)
- ctis·2024-516288-10-00·Expired·An Open-label Phase 1/2 Multicentre Study to Evaluate the Safety, Tolerability and Efficacy of RTX001 Autologous Macrophages in Participants with Liver Cirrhosis who have Hepatic Decompensation (EMERALD)
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 MECP2-related severe neonatal encephalopathy — 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.
("MECP2-related severe neonatal encephalopathy" OR "Severe congenital encephalopathy due to MECP2 mutation" OR "encephalopathy, neonatal severe, X-linked recessive" OR "severe neonatal encephalopathy due to MECP2 mutations") OR (MESH:"Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations") OR ("MECP2" OR "MECP2 syndrome" OR "MECP2-related")MeSH descriptor terms unioned into the query: Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MECP2-related severe neonatal encephalopathy" OR "Severe congenital encephalopathy due to MECP2 mutation" OR "encephalopathy, neonatal severe, X-linked recessive" OR "severe neonatal encephalopathy due to MECP2 mutations" OR "Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations"
Study-type breakdown: 0 interventional · 1 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
- Publication count (17365) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:24:44.906Z