Desipramine in Infantile Neuroaxonal Dystrophy (INAD).

• Status: Terminated
• Trial end date: 2019-08-30
• Target enrollment: 0
• Participant gender: All

Summary

This is a research study to find out if clinically prescribed desipramine is effective at improving the symptoms and slowing the progression of Infantile Neuroaxonal Dystrophy (INAD) in affected children.

Participants will receive an initial oral dose of study drug once a day. This dose may be changed depending on response to study drug Clinically collected data will be recorded for up to 5 years. Investigators will also ask for participant permission to obtain a sample of child's skin biopsy from unused clinical sample previously collected for standard of care.

• Phase: Phase 4
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Duke University
• Treatments: Desipramine

Criteria

Inclusion Criteria:

• 03-17years.

• Any gender

• Confirmed homozygotes or compound heterozygotes of pathogenic mutation variant(s) in PLA2G6

• Confirmed homozygotes of pathogenic mutation in PLA2G6

• Documentation of clinical presentation (signs and symptoms of neurodegenerative process) of INAD

Exclusion Criteria:

• Patient has sign and symptom suggesting an ongoing acute or chronic illness such as fever of unknown origin or infection.

• Patient has a second genetic condition

• Parents are unable or unwilling to return for continued care for up to 12 months