NCT06060184Not yet recruiting
Initiative for Clinical Long-read Sequencing
Initiative for Clinical Long-read Sequencing - Towards Implementation of Long-read Genome Sequencing in Routine Diagnostics
Source: ClinicalTrials.gov · Last updated 29 Sept 2023 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read Genome sequencing (SR-GS) to establish firm genetic diagnoses, the investigators will rely on a multi-center "Translate Nationale Aktionsbündnis für Menschen mit Seltenen Erkrankungen" (Translate National Action Alliance for People with Rare Diseases Germany, TNAMSE) cohort of unsolved patients with neurological, neurodevelopmental, and imprinting disorders that is expectedly enriched for complex genomic variation. Within the framework of genomDE, the investigators will then implement, for the first time, LR-GS in the diagnostic work-up of a prospective cohort of patients with a broad range of clinical indications including rare diseases and cancer predisposition.
- Status (registry)
- Not yet recruiting
- Study type
- Interventional
- Enrollment
- 500 (estimated)
- First submitted
- 13 Sept 2023
- Start date
- 1 Dec 2023
- Primary completion date
- 1 Dec 2025
- Lead sponsor
- University Hospital Tuebingen
- Diseases
- Childhood cancers
- NCT number
- NCT06060184
What you commit to
- Study type: Interventional
- Planned participants: 500
- From 1 Dec 2023 to the primary completion date, 1 Dec 2025
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- \- Missing informed consent of the patient or legal guardian
Who the study is looking for
- Unclear molecular cause of the disease (retrospective cohort)
- Indication for genome diagnostics (prospective cohort; e.g. within the initiative for genomic medicine (genomDE) based on §64e SGB V)
- Suspected genetic cause of the disease
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University Hospital Tübingen Coordinator of this site? Confirm its status | Tübingen | Germany | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.