Assessing inherited leukoencephalopathies through brain imaging and genetic analysis

The Fingerprinting of Inherited Leukoencephalopathies: A New Brain Imaging, Genetic and Clinical Assessment (FIABA)

This study is trying to see if advanced brain scans and genetic testing can help us understand inherited leukoencephalopathies in young people under 30.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 0 Years to 30 Years
• Sex: All
• Sponsor: IRCCS Fondazione Stella Maris (other)
• Locations: 3 sites (Troina, Enna and 2 other locations)
• Trial ID: NCT06332625 on ClinicalTrials.gov

What this trial studies

This observational study focuses on inherited leukoencephalopathies, a group of genetic disorders affecting the white matter of the central nervous system. It aims to utilize advanced diagnostic techniques, including next-generation genetic sequencing and brain quantitative magnetic resonance imaging (MRI), to better understand these conditions. The study will include patients under 30 years of age with diagnosed leukoencephalopathy and those undergoing MRI for other clinical reasons. By identifying genetic and imaging patterns, the study seeks to clarify the causes of these disorders, which remain unknown in many cases.

Who should consider this trial

Good fit: Ideal candidates include patients under 30 years of age with a diagnosed leukoencephalopathy or those undergoing MRI for unrelated clinical reasons with normal results.

Not a fit: Patients over 30 years of age or those without a diagnosis of leukoencephalopathy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic accuracy and better management strategies for patients with inherited leukoencephalopathies.

How similar studies have performed: Other studies have shown promise in using advanced imaging and genetic techniques for similar conditions, suggesting a potential for success in this approach.

Eligibility criteria

Inclusion Criteria:

* For MRI examinations at clinical fields:

  * Patients under 30 years of age with leukoencephalopathy already diagnosed and listed in institutional clinical databases or arriving at any Operational Unit during the project that meet the standard inclusion criteria;
  * Typical development patients under 30 years of age undergoing brain MRI for clinical reasons other than leukoencephalopathy (e.g., headache) with normal brain MRI results.
* For ultra-high field MRI (7T) examination:

  * Patients with leukoencephalopathy aged between 8 and 30 years, who are capable of cooperating with an MRI examination.
  * Patients suffering from leukoencephalopathy, who have already undergone a clinical field MRI (≤3T) as part of their diagnostic or research clinical pathway according to the diagnostic flowchart identified and shared with other institutes, and who present inconsistencies between clinical and imaging profiles or white matter patterns on clinical field imaging.

Exclusion Criteria:

* All subjects with absolute contraindications to undergoing an MRI exam, as determined by the medical history questionnaire.
* Patients with severe clinical conditions, such as the presence of a tracheostomy.

Additionally, further exclusion criteria for subjects participating in the 7T study will include:

* Age under 8 years;
* Inability to cooperate with undergoing an MRI exam.

Where this trial is running

Troina, Enna and 2 other locations

• IRCCS Associazione Oasi Maria SS Troina — Troina, Enna, Italy (RECRUITING)
• Ospedale San Raffaele — Milano, Italy (RECRUITING)
• Fondazione Istituto Neurologico Carlo Besta — Milano, Italy (RECRUITING)

Study contacts

• Study coordinator: Roberta Battini

Conditions: Leukoencephalopathies