Desipramine in Infantile Neuroaxonal Dystrophy (INAD).

Duke University

Status and phase: Terminated; Phase 4

Conditions: Infantile Neuroaxonal Dystrophy

Treatments: Drug: Desipramine

Study type: Interventional

Funder types: Other

Identifiers

NCT03726996

Pro00100799

Details and patient eligibility

About

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.

Full description

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.

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Enrollment: 4 patients

Sex: All

Ages: 3 to 17 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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4 participants in 1 patient group

Children with INAD

Experimental group

Description:

Infantile neuroaxonal dystrophy (INAD) is an extremely rare autosomal recessive neurodegenerative disorder that has grave clinical outcome and significant morbidity and mortality.

Treatment:

Drug: Desipramine