Natural history and genotype-phenotype patterns in mitochondrial leukoencephalopathies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study collects clinical, imaging, and genetic data from individuals with mitochondrial leukoencephalopathies to describe disease progression and genotype-phenotype correlations. Participants are required to have neuroradiological patterns of leukoencephalopathy or pathogenic variants in relevant genes and to provide informed consent. Data from medical records, including symptom onset, progression, and management, will be analyzed to identify common trajectories and potential genotype associations. Exclusion criteria ensure confirmed diagnoses with appropriate imaging or genetic confirmation. The research is led by Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan, with no listed collaborators at this time.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Confirmed diagnosis of ML, confirmed by:

  * Neuroradiological evidence of a MRI pattern of white matter alterations compatible with leukoencephalopathy
  * Genetic evidence of pathogenic variants in nuclear or mitochondrial genes
* Availability of clinical data, including medical records detailing symptom onset, disease progression, neuroimaging findings, and clinical management.
* Written informed consent obtained from the patient or their legal guardian (for minors or individuals with cognitive impairment). If the patient is deceased, consent for the use of medical records in this study will be obtained from the legally authorized representative or next of kin

Exclusion Criteria:

* Unconfirmed diagnosis of mitochondrial leukoencephalopathy , including cases where:

  * MRI findings do not demonstrate a white matter alteration pattern compatible with leukoencephalopathy
  * There is neither genetic confirmation of a pathogenic variant in nuclear or mitochondrial genes
* Insufficient clinical data, including cases where medical records lack essential information on symptom onset, disease progression, neuroimaging findings, or clinical management, preventing a meaningful contribution to the study's objectives.
* Concomitant diagnosis of another genetic disorder that may independently contribute to white matter abnormalities or neurological symptoms, confounding the assessment of ML progression and clinical outcomes
* Unavailability of written informed consent

Where it's running

• Fondazione IRCCS Istituto Neurologico Carlo Besta
  Milan, Italy Recruiting

Study contacts

• Principal investigator: Anna Ardissone, MD — Fondazione IRCCS Istituto Neurologico Carlo Besta
• Study coordinator: Anna Ardissone, MD
• Email: anna.ardissone@istituto-besta.it
• Phone: + 39 02.2394

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.