Purpose

This study looks to describe the impact of using miglustat in children with CLN6 Batten's disease (also called variant late-infantile onset Batten's Disease).  As this medication has already been prescribed in this group of children, the study investigators will look to describe the group of children's baseline disease, response to medication, and if any side effects are noted.  The study looks to assist others in understanding how this medication works as there is currently no known medical information published in this area to guide care providers, patients, and families.  



Category

IRB Number
STUDY00001580
NCT Number
deleted
Sponsor
-



Study Contact

Principal Investigator
Brian Faux



Eligibility

Eligible Ages
0-17 years
Eligible Genders
Accepts Healthy Volunteers
No

Inclusion Criteria

    1. ​​​​​​​Males or females aged 1 to 17 years. 
    2. A genetically confirmed diagnosis of CLN6 Batten’s disease with details of specific variant
    3. Willing to complete surveys
    4. Administered miglustat for any period of time, with or without additional medications, with the intention to treat symptoms of Batten’s disease

Exclusion Criteria

    1. Major neurological insult (e.g., ischemic or hemorrhagic stroke before or during the treatment period) that in the opinion of the study investigators would cloud any perception of effect of treatment for Batten’s disease

Study Design

Retrospective caregiver survey

Arm Groups