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NCT06376279
Genetic Diagnosis in Inborn Errors of Metabolism
trial testing IEM-EP in Metabolic Disease in 1,000 participants. Enrolling by invitation.
31 December 2030
Quick facts
| Lead sponsor | Region Stockholm |
|---|---|
| Status | ENROLLING BY INVITATION |
| Study type | OBSERVATIONAL |
| Enrollment | 1,000 |
| Start date | 29 April 2008 |
| Primary completion | 31 December 2030 |
| Estimated completion | 31 December 2030 |
Drugs / interventions tested
- IEM-EP
Conditions studied
- Metabolic Disease — all drugs for Metabolic Disease →
- Mitochondrial Diseases — all drugs for Mitochondrial Diseases →
- Epilepsy in Children — all drugs for Epilepsy in Children →
- Epilepsy — all drugs for Epilepsy →
Sponsor
Region Stockholm — full company profile →
Who can join
Eligibility, any sex, with Metabolic Disease or Mitochondrial Diseases. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many diseases novel therapies are being developed. Without treatment, many of the conditions result in early death or severe irreversible handicaps. The Centre for Inherited Metabolic Diseases, CMMS at Karolinska university hospital, is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine, combining clinical genetics, clinical chemistry, pediatrics, neurology, and endocrinology. The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06376279
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06376279 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Region Stockholm
- Last refreshed: 19 April 2024
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Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing