| NCT ID | Title | Study type | Status | Sponsor | Start date | Planned enrollment | Key endpoints | Notes |
|---|---|---|---|---|---|---:|---|---|
| NCT03866954 | Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy | Interventional, Phase 2, open-label, multi-centre, sequential | Withdrawn | St George's, University of London; collaborator: Neovii Biotech | Estimated 2024-11 | 12 | Safety/tolerability; plasma and urine thymidine/deoxyuridine pharmacodynamics; efficacy measures including BMI; additional outcomes included anti-TP antibodies, TPN use, handgrip strength, RODS, 10 m walk, CGI-I, EQ-5D, PROMIS GI | EE-TP via autologous erythrocytes loaded with E. coli TP; dosing every 3 weeks until metabolic correction then every 2-4 weeks for planned 24 months plus 90-day follow-up; actual enrollment 0; withdrawn due to change of circumstances with commercial partner (pqac-00000027, pqac-00000028, pqac-00000033) |
| NCT07627217 | MNGIE Natural History Study | Observational, retrospective natural history study/registry | Recruiting | University of Cambridge; collaborator: University of Bologna | 2026-03-17 | 50 | Primary: survival time at enrollment; additional data capture for genotype-phenotype subgroups, biomarkers/outcome measures, demographics, HPO-coded history, investigations, and prior treatments | International retrospective REDCap-based study; estimated primary/completion 2027-07-31; records prior EE-TP, HSCT, transplant, and dialysis exposures (pqac-00000030, pqac-00000035) |
| NCT01694953 | The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) | Observational, multicenter, prospective cohort | Recruiting | Columbia University | 2013-02 | 20 | Primary: Timed Water Swallow; secondary: Degree of Neuropathy; other outcomes include MMSE, GI function, lean body mass, neuropsychological capability, quality of life, nutrition, motor function, biochemical parameters | Follow-up every 6 months for up to 5 years; includes patients age >=5 years with TYMP/TP defect and elevated plasma thymidine/deoxyuridine (pqac-00000031) |
| NCT04245917 | Natural History Study of MNGIE | Observational, prospective, multicenter, non-interventional | Suspended | Entrada Therapeutics, Inc. | 2020-08-06 | 60 | Primary: “MNGIE Clinical Course” over 5 years | Suspended for business reason; primary completion estimated 2025-02 and study completion estimated 2026-02 (pqac-00000032) |
| NCT06784453 | Evolution of Nutritional Status and Intestinal Function in Patients With MNGIE | Observational cohort | Completed | IRCCS Azienda Ospedaliero-Universitaria di Bologna | Not stated in extracted context | 8 | Primary nutritional-status measures: BMI, body composition, serum albumin; serial intestinal assessments including SIBO testing, fecal calprotectin, endoscopy, abdominal ultrasound, hepatic elastometry | Real-world natural history/supportive care study in genetically confirmed TYMP cases; records nutritional interventions and marrow/liver transplant exposures; follow-up every 4 months and at last follow-up/death (pqac-00000034) |


*Table: This table summarizes active or recent ClinicalTrials.gov studies relevant to MNGIE, including the withdrawn EE-TP interventional trial and major natural history cohorts. It is useful for identifying current research infrastructure, planned endpoints, and practical notes such as enrollment targets, follow-up duration, and reasons for suspension or withdrawal.*