# Genetic Diagnosis in Inborn Errors of Metabolism

> **NCT06376279** · — · ENROLLING_BY_INVITATION · sponsor: **Region Stockholm** · enrollment: 1000 (estimated)

## Conditions studied

- Metabolic Disease
- Mitochondrial Diseases
- Epilepsy in Children
- Epilepsy
- LHON
- Motor Neuron Disease

## Interventions

- **GENETIC:** IEM-EP

## Key facts

- **NCT ID:** NCT06376279
- **Lead sponsor:** Region Stockholm
- **Sponsor class:** OTHER_GOV
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** ENROLLING_BY_INVITATION
- **Start date:** 2008-04-29
- **Primary completion:** 2030-12-31
- **Final completion:** 2030-12-31
- **Target enrollment:** 1000 (ESTIMATED)
- **Last updated:** 2024-04-19

## Collaborators

- [object Object]

## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT06376279

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT06376279, "Genetic Diagnosis in Inborn Errors of Metabolism". Retrieved via AI Analytics 2026-08-12 from https://api.ai-analytics.org/clinical/NCT06376279. Licensed CC0.

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