Clinical trial · Observational
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
NCT06796751CI-TRIAL-00085366PREDICT-LRSrecruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Rare Diseases | — | UNRESOLVED | — |
| Whole Exome Sequencing | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| DNA/RNA sequencing and bioinformatic data analysis | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (4)
- label
- Patients with CNVs of unknown significance
- description
- The first subgroup of patients are those with SVs of unknown significance or uncertain disease mechanism.
- interventionNames
- Genetic: DNA/RNA sequencing and bioinformatic data analysis
- label
- Patients with complex genomic rearrengements
- description
- Other complex rearrangements can be studied with LRS (i.e. ring chromosomes, isochromosome, chromosomal translocations, somatic SV found in tumors, etc.) to gain a better understanding of the molecular mechanisms of pathogenicity.
- interventionNames
- Genetic: DNA/RNA sequencing and bioinformatic data analysis
- label
- Patients with a monoallelic variant in an AR gene
- description
- A third subgroup of patients eligible for the study are those with identified monoallelic alteration in autosomal recessive (AR) genes.
- interventionNames
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 28 Days
Show eligibility criteria text
Inclusion Criteria: * patients/relatives of patients with Copy Number Variations (CNVs), previously detected by aCGH, with uncertain clinical significance; * patients/relatives of patients with inconclusive WES and aCGH data (no pathogenic/likely pathogenic variant); * patients/relatives of patients with a known single hit (a pathogenic or likely pathogenic variant) in an AR gene detected with WES or aCGH; * patients/relatives of patients with a finding of complex structural variants whose molecular disease mechanism is to be elucidated. Exclusion Criteria: * none
References
Publications (0)
Data not yet available
No reference posted for this study.