TerminatedPhase 4

Desipramine in Infantile Neuroaxonal Dystrophy (INAD).

Stopped: Funding exhausted

United States4 participantsStarted 2019-01-14

Plain-language 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.

Who can participate

Age range

3 Years – 17 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in Gross Motor Function as Measured by Gross Motor Function Measure (GMFM-66)

Timeframe: Baseline, 3, 6, 9, and 12 months

Change in Motor Function as Measured by Quick Motor Function Test (QMFT)

Timeframe: Baseline, 3, 6, 9, and 12 months

Change in Cognitive Function as Measured by the Vineland Adaptive Behavioral Scale

Timeframe: Baseline, 3, 6, 9, and 12 months

Number of Participants With Change in Q-T Interval on ECG

Timeframe: Baseline, 3, 6, 9, and 12 months

Number of Participants With Abnormal Transaminase Values

Timeframe: Baseline, 3, 6, 9, and 12 months

Trial details

NCT IDNCT03726996

SponsorDuke University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2019-08-30

Results submitted2020-08-13

View on ClinicalTrials.gov More Infantile Neuroaxonal Dystrophy trials

Plain-language summary

Who can participate

Age range

3 Years – 17 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Change in Gross Motor Function as Measured by Gross Motor Function Measure (GMFM-66)

Timeframe: Baseline, 3, 6, 9, and 12 months

Change in Motor Function as Measured by Quick Motor Function Test (QMFT)

Timeframe: Baseline, 3, 6, 9, and 12 months

Change in Cognitive Function as Measured by the Vineland Adaptive Behavioral Scale

Timeframe: Baseline, 3, 6, 9, and 12 months

Number of Participants With Change in Q-T Interval on ECG

Timeframe: Baseline, 3, 6, 9, and 12 months

Number of Participants With Abnormal Transaminase Values

Timeframe: Baseline, 3, 6, 9, and 12 months