A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy

Study Overview
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Brief Summary
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The purpose of this study is to evaluate the efficacy and safety of RT001 in patients with Infantile Neuroaxonal Dystrophy (INAD).

Detailed Description
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This is a single arm open-label study with a structured observation of INAD patients treated with RT001. Enrolled subjects will undergo observation and testing to determine the effect of RT001 treatment. Fifteen to twenty eligible subjects will be treated with RT001 for long-term evaluation of efficacy, safety, tolerability, and pharmacokinetics.

Official Title
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A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy

Conditions
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Infantile Neuroaxonal Dystrophy

Intervention / Treatment
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* Drug: RT001


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male or female 18 months to 10 years of age Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years) Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes) Must have impairment in at least 2 of the assessed categories at baseline Signed informed consent form (ICF) prior to entry into the study Able to provide the necessary blood samples Exclusion Criteria: Received treatment with other experimental therapies within the last 30 days prior to the first dose Requiring mechanical ventilation, other than positive air pressure support primarily for mitigation of sleep apnea. Have a life expectancy of less than one year Diagnosis of atypical NAD (ANAD) Unwilling or unable to comply with the requirements of this protocol, including the presence of any condition (physical, mental, or social) that is likely to affect the subject's ability to return for visits as scheduled

Ages Eligible for Study
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Minimum Age: 18 Months
Maximum Age: 10 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Interventional Model Description: Single arm open-label study
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: RT001<br>RT001, oral, 3.84 g/day | Drug: RT001<br>* RT001 is encapsulated di-deutero synthetic homologue of linoleic acid ethyl ester. Each capsule contains 960 mg of RT001.<br>* Other names: Deuterated linoleic acid;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Modified Ashworth Spasticity Scale | Change from baseline in the Modified Ashworth spasticity scale. | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| INAD Progression Composite | Change from baseline in an INAD composite score to assess the overall treatment effect on the most progressive aspects of the disease | 12 months | 
| Progression Free Survival Time | Progression free survival time (mortality or pneumonia) | All available data | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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INAD, Infantile Neuroaxonal Dystrophy