Desipramine in Infantile Neuroaxonal Dystrophy (INAD).

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT03726996
• Date of registration: 29/10/2018
• Prospective Registration: Yes
• Primary sponsor: Duke University
• Public title: Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
• Scientific title: Novel Off-label Use of Desipramine in Infantile Neuroaxonal Dystrophy: Targeting the Sphingolipid Metabolism Pathway to Reduce Accumulation of Ceramide.
• Date of first enrolment: January 14, 2019
• Target sample size: 4
• Recruitment status: Terminated
• URL: https://clinicaltrials.gov/show/NCT03726996
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 4

Countries of recruitment

United States

Contacts

• Name: Yong-hui Jiang, MD
• Affiliation: Duke University

Key inclusion & exclusion 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



Age minimum: 3 Years
Age maximum: 17 Years
Gender: All

Health Condition(s) or Problem(s) studied

Infantile Neuroaxonal Dystrophy

Intervention(s)

Drug: Desipramine

Primary Outcome(s)

Number of Participants With Change in Q-T Interval on ECG [Time Frame: Baseline, 3, 6, 9, and 12 months]

Change in Gross Motor Function as Measured by Gross Motor Function Measure (GMFM-66) [Time Frame: Baseline, 3, 6, 9, and 12 months]

Change in Motor Function as Measured by Quick Motor Function Test (QMFT) [Time Frame: Baseline, 3, 6, 9, and 12 months]

Number of Participants With Abnormal Transaminase Values [Time Frame: Baseline, 3, 6, 9, and 12 months]

Change in Cognitive Function as Measured by the Vineland Adaptive Behavioral Scale [Time Frame: Baseline, 3, 6, 9, and 12 months]

Secondary ID(s)

Pro00100799

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 14/10/2020
• URL: https://clinicaltrials.gov/ct2/show/results/NCT03726996