Last reviewed · How we verify
NCT05750979: LBSL
Quantifying Disease Progression in LBSL
trial in LBSL in 20 participants. Status unknown.
31 December 2025
Quick facts
| Lead sponsor | M. Engelen |
|---|---|
| Status | Status unknown |
| Study type | OBSERVATIONAL |
| Enrollment | 20 |
| Start date | 11 March 2021 |
| Primary completion | 31 December 2025 |
| Estimated completion | 31 December 2025 |
| Sites | 1 location across Netherlands |
Conditions studied
- LBSL — all drugs for LBSL →
- Leukoencephalopathies — all drugs for Leukoencephalopathies →
Sponsor
M. Engelen
Who can join
16 and older, any sex, with LBSL or Leukoencephalopathies. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL) is a genetic disorder caused by biallelic mutations in the DARS2 gene that encodes mitochondrial aspartyl tRNA synthase.(1, 2) It is characterized by typical abnormalities on MRI of the brain and spinal cord.(3) Clinically, the disorder is heterogeneous and can present in the neonatal period, later in childhood or even in adults.(3) In general it can be stated that the earlier presentations are characterized by rapid progression leading to severe disability and death. Presentation at a later age is typically characterized by a more benign disease course, although considerable disability is common. Clinically, the disease presents as a slowly progressive myelopathy with mainly involvement of the corticospinal tracts and the dorsal columns. Although the natural history has been studied in large cohorts, the rate of progression has not been systematically studied with clinimetric outcome scales or potential surrogate outcomes for spinal cord disease.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT05750979
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
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Currently open trials in the same condition.
- NCT05443906 — Home Exercise for Individuals with Neurodegenerative Disease · NA · recruiting
- NCT03047369 — The Myelin Disorders Biorepository Project · recruiting
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 NCT05750979 (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 M. Engelen
- Last refreshed: 2 March 2023
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT05750979.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing