Principal Investigator: Joshua Bonkowsky
Keywords: pediatric , leukodystrophy , neurological disease , myelin Department: Pediatric Administration
IRB Number: 00116445
Specialty: Pediatric Neurology
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

Joshua Bonkowsky
joshua.bonkowsky@hsc.utah.edu
8012133599

Brief Summary

The purpose of this study is to: (Aim 1) define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders; (Aim 2) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (Aim 3) establish disease mechanisms in selected known leukodystrophies; and (Aim 4) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders.  This will be achieved by collecting data and samples in a longitudinal fashion across leukodystrophies.

Inclusion Criteria

Cases:

1)    Males or females of any age

2)    Suspected or confirmed diagnosis of leukodystrophy 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).

3)    Parental/guardian permission (informed consent) and if appropriate, child assent or patient consent

4)    Willingness to provide clinical data, participate in standardized assessment and provide biologic samples

 

Controls:

1)    Males or females of any age

2)    Individual having a relative with a suspected/confirmed leukodystrophy

3)    Parental/guardian permission (informed consent) and if appropriate, child assent or subject consent

Exclusion Criteria

Cases:

1)    Identification of a diagnosis not consistent with a genetic disorder of the white matter such as an acquired demyelinating condition (e.g. Multiple Sclerosis) or an infectious etiology prior to enrollment, with the exception of sequelae of congenital infections such as CMV

2)    Inability to obtain consent

3)    Weight below safe range for biological sample collection (typically <3kg)

 

Controls:

1)    Weight below safe range for biological sample collection (typically <3kg)

2)    Inability to provide consent