Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
| Status: | Enrolling by invitation |
|---|---|
| Healthy: | No |
| Age Range: | 3 - 17 |
| Updated: | 1/18/2019 |
| Start Date: | January 14, 2019 |
| End Date: | November 30, 2020 |
Novel Off-label Use of Desipramine in Infantile Neuroaxonal Dystrophy: Targeting the Sphingolipid Metabolism Pathway to Reduce Accumulation of Ceramide.
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.
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.
To be eligible participants must be able to swallow tablets The study drug is to be taken
once daily Schedule of events. Day 0 - ECG and blood tests (4 ml or ¾ teaspoon) Day 3 - ECG
and blood tests (4 ml or ¾ teaspoon) Day 7 - ECG and blood tests (4 ml or ¾ teaspoon) Weeks
2, 3, 4, 8 & 12. ECG and blood tests (4 ml or ¾ teaspoon) Every 3 months for up to 5 years.
once daily Schedule of events. Day 0 - ECG and blood tests (4 ml or ¾ teaspoon) Day 3 - ECG
and blood tests (4 ml or ¾ teaspoon) Day 7 - ECG and blood tests (4 ml or ¾ teaspoon) Weeks
2, 3, 4, 8 & 12. ECG and blood tests (4 ml or ¾ teaspoon) Every 3 months for up to 5 years.
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
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