Desipramine in Infantile Neuroaxonal Dystrophy (INAD).

NCT ID: NCT03726996

Last Updated: 2020-10-14

Basic Information

• Recruitment Status: TERMINATED
• Clinical Phase: PHASE4
• Total Enrollment: 4 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2019-01-14
• Study Completion Date: 2019-08-30

Brief 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.

Detailed 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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Conditions

Infantile Neuroaxonal Dystrophy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Children with INAD

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

Group Type: EXPERIMENTAL

Desipramine

Intervention Type: DRUG

Study drug (desipramine) provided in tablet form to be taken daily.

Interventions

Desipramine

Study drug (desipramine) provided in tablet form to be taken daily.

Intervention Type: DRUG

Eligibility 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

• Minimum Eligible Age: 3 Years
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Duke University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Yong-hui Jiang, MD

Role: PRINCIPAL_INVESTIGATOR

Duke University

Locations

Duke University Health Center

Durham, North Carolina, United States

Countries

United States

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

Pro00100799

Identifier Type: -

Identifier Source: org_study_id