ORPHA:477814
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Publications
2,496
Trials
0
Interventional, condition-specific
Researchers
600
Distinct authors in sample
Gene link
DIAPH1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
microcephaly--cortical blindness- syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, microcephaly and early-onset , associated with delayed global development, bilateral cortical visual impairment and moderate to severe . Additional manifestations include short stature, generalized and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and screenings are normal.
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:0014714
- OMIM:616632
- UMLS:C5567650
Additional Mondo synonyms (2)
SCBMS · seizures, cortical blindness, microcephaly syndrome
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 — DIAPH1
- LiteraturePresent
2,496 matched papers (1,607 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Microcephaly; Hypoplasia of the corpus callosum; Short stature) 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 (DIAPH1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
33
Associated phenotypes · MONDO:0014714
- Microcephaly
- Hypoplasia of the corpus callosum
- Short stature
- Seizure
- Optic atrophy
Showing 5 of 33 — 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?
2,496
2,496 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,496 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).
1,607 in the last 10 years · low confidence
Phrase hits: 85 · MeSH hits: 0
Who's working on it?
600
Distinct author names in 85 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.
- 01
- 02Cosgrove D6 papers · 2025
Boys Town National Research Hospital, Omaha, NE, USA; University of Nebraska Medical Center, Omaha, NE, USA. Electronic address: Dominic.cosgrove@boystown.org.
Papers in Europe PMC - 03Gratton MA6 papers · 2025
Department of Otolaryngology, Head and Neck Surgery, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 04
- 05Camilleri M4 papers · 2016
Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER), Mayo Clinic, Rochester, Minnesota 55905, USA. camilleri.michael@mayo.edu
Papers in Europe PMC - 06
- 07Ke M4 papers · 2016
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China.
Papers in Europe PMC - 08
- 09Piessevaux H4 papers · 2017
Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Papers in Europe PMC - 10Quigley EM4 papers · 2015
Division of Gastroenterology and Hepatology, Houston Methodist Hospital and Weill Cornell Medical College, Houston, TX, 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).
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.
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 60 · after dedupe 57 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 57 · 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 (57)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2026-526581-24-01·Authorised·Oral versus Intravenous Tranexamic Acid for Blood Loss Prevention in Off-Pump Coronary Artery Bypass Surgery: A
Randomised Non-Inferiority Trial (TRANSCAB Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2026-525770-19-00·Authorised, ongoing·Optimising the protocol of labour induction using misoprostol – randomised open-label clinical trial (OPTIMISO)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525153-39-00·Authorised·Effect of vasopressin versus norepinephrine on post-operative mean pulmonary arterial pressure following pulmonary endarterectomy surgery, a randomized open label trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524195-29-00·Authorised·A randomized, placebo-controlled trial to assess the efficacy, tolerability, and pharmacokinetics of clemastine in children and adults with Pitt-Hopkins syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524038-24-00·Authorised, recruiting·A Double-blind, Randomized Clinical Trial Evaluating the Efficacy and Safety of Vormatrigine in Adults with Focal Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2025-523709-13-00·Authorised·Sevoflurane vs. propofol for general Anesthesia in patients with acute ischemic stroke treated with endoVascular treatmEnt (SAVE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515663-59-00·Authorised·Efficacy of prophylactic levetiracetam for improving functional outcome in the acute phase of intracerebral haemorrhage:
a randomised, double-blind, placebo-controlled, phase 3 trial
PEACH 2
skipped — LLM skipped (--skip-llm)
- ctis·2025-523475-33-00·Authorised, ongoing·Caffeine Administration for Preterms: Pharmacokinetics, Utilization and Correlation Inhibiting Nociception Outcome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522346-46-00·Authorised, ongoing·Study of Oral MC-1 for the Treatment of Patients with PNPO Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-512261-14-00·Authorised, ongoing·A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and Young Children with Hypochondroplasia, Aged 0 to < 36 Months
skipped — LLM skipped (--skip-llm)
- ctis·2025-520587-18-00·Authorised, ongoing·RENAISSANCE 2:
A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of SPN-817 in Adults with Focal Onset Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-519133-29-00·Authorised·Efficacy of probenecid on cluster seizures during dosage reduction of Anti Seizure Medication (ASM) in presurgical focal epilepsy video-EEG monitoring
skipped — LLM skipped (--skip-llm)
- ctis·2025-521640-38-00·Authorised, ongoing·Open Label Extension Clinical Trial of Vormatrigine in Adult Patients with Epilepsy.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
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·2024-516148-24-00·Authorised, ongoing·A phase III, randomized, double-blinded study of the efficacy and safety of LEvetiracetam to prevent Seizures in Symptomatic Alzheimer's Disease in adults with Down syndrome (the LESS-AD trial).
skipped — LLM skipped (--skip-llm)
- ctis·2024-516410-38-00·Authorised, ongoing·PDH-RAVICTI - A PHASE II, MULTICENTRIC, PROSPECTIVE, NON-COMPARATIVE CLINICAL TRIAL TO ASSESS THE EFFICACY AND SAFETY OF THE TREATMENT OF PYRUVATE DEHYDROGENASE DEFICIENCY (PDH) PATIENTS WITH GLYCEROL PHENYLBUTYRATE (RAVICTI®)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517061-16-01·Cancelled·An Open Label Clinical Trial to Evaluate the Efficacy and Safety of PRAX-628 in Adult Patients with Focal Onset or Primary Generalized Tonic-Clonic Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-514499-42-00·Authorised, recruiting·A Double-Blind, Randomized, Placebo and Active Controlled Study to Evaluate the Efficacy and Safety of Once Daily, Extended Release Levetiracetam as Add-on Therapy in Patients with Refractory Partial Onset Epilepsy.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514045-11-00·Cancelled·A Phase I, Open-Label, Pharmacokinetic, Dose-Escalation Study of Cenobamate (YKP3089) in Pediatric Subjects with Partial Onset Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-520171-27-00·Authorised, ongoing·Treatment with full-spectrum cannabis extract of refractory epilepsy associated with Tuberous Sclerosis Complex (TSC): SPECTRUM
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 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome — 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.
("Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" OR "SCBMS" OR "seizures, cortical blindness, microcephaly syndrome") OR ("DIAPH1" OR "DIAPH1 syndrome" OR "DIAPH1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" OR "SCBMS" OR "seizures, cortical blindness, microcephaly syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (2496) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:09:16.457Z