ORPHA:557064
Neonatal epileptic encephalopathy due to glutaminase deficiency
Clinical definition (Orphanet)
A rare genetic neurometabolic disease characterized by early refractory , , and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
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.
Is anyone studying this?
12
12 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=183) is 38.
12 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
12 in the last 10 years · high confidence · 33.3th percentile (publications denominator)
Is a treatment being tested?
14
trials for this specific condition
14 interventional trials matched this specific condition name; 5 currently recruiting in our sample.
Data as of 26 July 2026
0
no matched trials for glutaminase deficiency, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
14 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 88th percentile).
high confidence · 88th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GLS).
GenCC classification: Strong.
Who's working on it?
108
Distinct author names in 12 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Achanta U1 paper · 2024
Department of Paediatrics SRM Medical College Hospital and Research Centre Chengalpattu India.
Papers in Europe PMC - 02Adani F1 paper · 2023
Gruppo Ricicla Labs., Dipartimento di Scienze Agrarie e Ambientali-Produzione, Territorio, Agroenergia (DiSAA), Università Degli Studi Di Milano, Via Celoria 2, 20133, Milano, Italy. Fabrizio.Adani@unimi.it.
Papers in Europe PMC - 03Agha Gholizadeh M1 paper · 2024
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Papers in Europe PMC - 04Ahimaz PR1 paper · 2021
Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Papers in Europe PMC - 05Aiyappan SK1 paper · 2024
Department of Radiology SRM Medical College Hospital and Research Centre Chengalpattu India.
Papers in Europe PMC - 06Alagoz M1 paper · 2020
Department of Molecular Biology and Genetics, Genome Centre, Biruni University, Zeytinburnu, Istanbul, Turkey.
Papers in Europe PMC - 07Alizadeh F1 paper · 2021
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Papers in Europe PMC - 08Assmann B1 paper · 2026
Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Papers in Europe PMC - 09Badmann S1 paper · 2026
Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.
Papers in Europe PMC - 10Ballhausen D1 paper · 2026
Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
14 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07723976·A Study to Evaluate the Safety and Efficacy of CBD-OS in Participants With DEE
- NCT07227857·A First-in-human Study of S230815 in Pediatric Participants With KCNT1-related Developmental and Epileptic Encephalopathy
- NCT06908226·A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
- NCT07010471·A Clinical Trial for Participants With DEE to Assess Efficacy, Safety, Tolerability, and PK of Relutrigine
- NCT05737784·A Clinical Trial of PRAX-222 in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
Observational and natural-history studies
6 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT06092346·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
- NCT06380192·Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
- NCT07396883·Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
- NCT07413211·Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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 below but are not added to the query string.
"Neonatal epileptic encephalopathy due to glutaminase deficiency" OR "DEE71" OR "EIEE71" OR "developmental and epileptic encephalopathy 71" OR "epileptic encephalopathy, early infantile, 71"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal epileptic encephalopathy due to glutaminase deficiency" OR "DEE71" OR "EIEE71" OR "developmental and epileptic encephalopathy 71" OR "epileptic encephalopathy, early infantile, 71" OR "GLS" OR "genetic developmental and epileptic encephalopathy" OR "developmental and epileptic encephalopathy"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 14 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:618328 UMLS:C5193030
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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