Clinical Trials

Inclusion Criteria

Cases 

• Male or female of any age.
• Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems (Vanderver et al., 1993, Parikh et al., 2015, Vanderver et al., 2015).
• Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.
• Willingness to provide clinical data, participate in standardized assessments, and/or provide biologic samples.

Healthy Controls 

• Male or female of any age.
• Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain.
• Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.

Exclusion Criteria

Cases

• Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g., multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV.
• Inability to provide consent.

Healthy Controls

• Inability to provide consent.
• Subjects that do not meet all of the enrollment criteria may not be enrolled.
• Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 1/9/24. Questions regarding updates should be directed to the study team contact.