Rare Disease Trial, Recruiting (NCT06549218)

Rare Disease Trial, Recruiting NCT06549218 Sponsor: University Hospital Freiburg Condition: Rare Disease

Printed from Voxsanity (voxsanity.com.au) — NCT06549218 — Data sourced from ClinicalTrials.gov. Verify directly with the trial site before attending. Not medical advice.

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Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

For the basic genetic screening part (TREAT-panel):

Your baby must be a newborn or infant
Your baby must have been born at one of the hospitals or birth centres taking part in this study
Both parents or legal guardians must have signed a consent form agreeing to take part in the genetic newborn screening

For the whole genome sequencing (full genetic testing) part:

Your child must already be taking part in the TREAT-panel part of this study
Your child must be showing signs that could suggest a genetic condition, and this must happen within the first 2 years of life
Both parents or legal guardians must have signed consent forms agreeing to both the newborn genetic screening and the full genome sequencing

Who may not be able to join:

Families where both parents or legal guardians have not signed the required consent forms will not be able to participate

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.

Last synced 28 July 2026

This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Alessandra Ferlini, Professor, Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

Phone: +39 0532 974439

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Voxsanity

Clinical trials and treatments, explained plainly · voxsanity.com.au

Date:

To: My Doctor

Re: Clinical trial enquiry

I am writing to enquire about the following clinical trial which may be relevant to my care:

Trial: NCT06549218

Sponsor: University Hospital Freiburg

Phase: Not Applicable

Status: Recruiting

Condition: Rare Disease

Trial contact: +39 0532 974439

More information: https://clinicaltrials.gov/study/NCT06549218

Eligibility summary (AI generated)

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

For the basic genetic screening part (TREAT-panel):

Your baby must be a newborn or infant
Your baby must have been born at one of the hospitals or birth centres taking part in this study
Both parents or legal guardians must have signed a consent form agreeing to take part in the genetic newborn screening

For the whole genome sequencing (full genetic testing) part:

Your child must already be taking part in the TREAT-panel part of this study
Your child must be showing signs that could suggest a genetic condition, and this must happen within the first 2 years of life
Both parents or legal guardians must have signed consent forms agreeing to both the newborn genetic screening and the full genome sequencing

Who may not be able to join:

Families where both parents or legal guardians have not signed the required consent forms will not be able to participate

Important: Always verify eligibility with the trial site directly before applying.

Access in Australia: A treatment being studied in a clinical trial is generally not yet listed on the PBS. Where a medicine is not approved or not available through a trial, the TGA Special Access Scheme may allow a doctor to access unapproved therapeutic goods for individual patients. See voxsanity.com.au/sas-navigator/ for a plain English explainer.

This information was sourced from ClinicalTrials.gov via Voxsanity (data last synced 28 July 2026). It is not medical advice. Please verify the trial's current status directly with the trial site before acting.

Trial details

Status

Recruiting

Phase

Not Applicable

Sponsor

University Hospital Freiburg

Registry

ClinicalTrials.gov

Start date

3 December 2024

Est. completion

1 December 2026

Where this trial is recruiting

🇫🇷 France 🇩🇪 Germany 🇮🇹 Italy

Primary endpoints

TREAT-panel; TREAT-panel; Whole Genome Sequencing; Whole Genome Sequencing; Whole Genome Sequencing

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov