ORPHA:330050
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Publications
3,945
Trials
0
Interventional, condition-specific
Researchers
113
Distinct authors in sample
Gene link
DNM1L
Strong
Readiness
3/6
Stages with a signal
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:0013726
- OMIM:614388
- UMLS:C3280660
Additional Mondo synonyms (3)
DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect · encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 · lethal encephalopathy due to mitochondrial and peroxisomal fission defect
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
Strong — DNM1L
- LiteraturePresent
3,945 matched papers (3,073 in last 10 years) Source
- Phenotype characterisedPresent
67 HPO annotations (e.g. Pain insensitivity; Broad thumb; Elevated circulating hexacosanoic acid concentration) 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 (DNM1L).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
67
Associated phenotypes · MONDO:0013726
- Pain insensitivity
- Broad thumb
- Elevated circulating hexacosanoic acid concentration
- Drooling
- Optic disc pallor
Showing 5 of 67 — 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?
3,945
3,945 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.
3,945 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).
3,073 in the last 10 years · low confidence
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
113
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.
- 01Peng J2 papers · 2023
Department of Pediatrics, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Papers in Europe PMC - 02Wangler MF2 papers · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Papers in Europe PMC - 03Wu TH2 papers · 2023
Department of Pediatrics, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Papers in Europe PMC - 04Yang L2 papers · 2023
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 05Alessandri JL1 paper · 2021
Service de Réanimation Néonatale, Pole Femme-Mère-Enfant, CH Felix Guyon, CHU de La Réunion, Saint-Denis, La Réunion, France.
Papers in Europe PMC - 06Almannai M1 paper · 2022
Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, Riyadh P.O. Box 22490, Saudi Arabia.
Papers in Europe PMC - 07Assia Batzir N1 paper · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Papers in Europe PMC - 08Baudet H1 paper · 2023
Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
Papers in Europe PMC - 09Bellen HJ1 paper · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Papers in Europe PMC - 10Bhagwat PK1 paper · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, 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.
Broader category encephalopathy due to mitochondrial and peroxisomal fission defect also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: encephalopathy due to mitochondrial and peroxisomal fission defect
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. 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 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·2025-525020-99-00·Authorised·PROPHY-SEIN - Evaluation of the effect of antibiotic prophylaxis during lumpectomy for breast cancer: prospective randomised double-blind noninferiority study of placebo vs cefazolin
skipped — LLM skipped (--skip-llm)
- 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·2025-523149-80-00·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 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect — 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.
("DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect" OR "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" OR "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" OR "lethal encephalopathy due to mitochondrial and peroxisomal fission defect") OR ("DNM1L" OR "DNM1L syndrome" OR "DNM1L-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect" OR "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" OR "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" OR "lethal encephalopathy due to mitochondrial and peroxisomal fission defect"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"encephalopathy due to mitochondrial and peroxisomal fission defect"
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 (3945) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:05:03.088Z