Last reviewed · How we verify
NCT06072079
Structural Chromosome Rearrangements and Brain Disorders
trial in Rare Diseases in 10,000 participants. Enrolling by invitation.
31 December 2029
Quick facts
| Lead sponsor | Karolinska Institutet |
|---|---|
| Status | ENROLLING BY INVITATION |
| Study type | OBSERVATIONAL |
| Enrollment | 10,000 |
| Start date | 20 December 2019 |
| Primary completion | 31 December 2029 |
| Estimated completion | 31 December 2029 |
| Sites | 1 location across Sweden |
Conditions studied
- Rare Diseases — all drugs for Rare Diseases →
- Genetic Disease — all drugs for Genetic Disease →
- Chromosome Abnormality — all drugs for Chromosome Abnormality →
Sponsor
Karolinska Institutet
Who can join
Eligibility, any sex, with Rare Diseases or Genetic Disease. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV. Many times, the specific disease-causing mechanism is not known. Here, the plan is to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved. First, genome sequencing will be done to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, the aim is to study how structural variants impact gene expression. Finally, disease mechanisms will be functionally explored in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells. The studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms the findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06072079
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Rare Diseases
Currently open trials in the same condition.
- NCT06595940 — Genetic Analysis of Uncommon Disease Presentations in Non-US Populations · recruiting
- NCT07247279 — Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia · recruiting
- NCT07102966 — Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas · NA · recruiting
- NCT06856902 — BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe · NA · recruiting
- NCT06926127 — Genomic Profiling of Genetic and Rare Diseases · NA · recruiting
Other Karolinska Institutet trials
Trials by the same sponsor.
- NCT06359262 — Evaluating the Hope@School Prevention Program · NA · not yet recruiting
- NCT07289490 — Bilateral vs Unilateral Inguinal Hernia Repairs With an Asymptomatic Inguinal Hernia in Bilateral Hernias · NA · not yet recruiting
- NCT06894264 — Emotion Processing and Regulation in People With Intellectual Disability · NA · not yet recruiting
- NCT07494266 — Safety of a Healthy Plant-based Diet With Higher Potassium Content, Compared to a Healthy Plant-based Diet With Limited · NA · not yet recruiting
- NCT07442032 — Cardiovascular Phenotypes in Sepsis · not yet 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 NCT06072079 (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 Karolinska Institutet
- Last refreshed: 4 September 2025
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/NCT06072079.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing