Infantile Neuroaxonal Dystrophy
Conditions
Keywords
INAD, Infantile Neuroaxonal Dystrophy
Brief summary
The purpose of this study is to evaluate the efficacy and safety of RT001 in patients with Infantile Neuroaxonal Dystrophy (INAD).
Detailed description
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.
Interventions
DRUGRT001
RT001 is encapsulated di-deutero synthetic homologue of linoleic acid ethyl ester. Each capsule contains 960 mg of RT001.
Sponsors
Biojiva LLC
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Masking description
Open Label
Intervention model description
Single arm open-label study
Eligibility
Sex/Gender
ALL
Age
18 Months to 10 Years
Healthy volunteers
No
Inclusion criteria
1. Male or female 18 months to 10 years of age 2. Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years) 3. Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes) 4. Must have impairment in at least 2 of the assessed categories at baseline 5. Signed informed consent form (ICF) prior to entry into the study 6. Able to provide the necessary blood samples
Exclusion criteria
1. Received treatment with other experimental therapies within the last 30 days prior to the first dose 2. Requiring mechanical ventilation, other than positive air pressure support primarily for mitigation of sleep apnea. 3. Have a life expectancy of less than one year 4. Diagnosis of atypical NAD (ANAD) 5. 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Modified Ashworth Spasticity Scale | 12 months | Change from baseline in the Modified Ashworth spasticity scale. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| INAD Progression Composite | 12 months | Change from baseline in an INAD composite score to assess the overall treatment effect on the most progressive aspects of the disease |
| Progression Free Survival Time | All available data | Progression free survival time (mortality or pneumonia) |
Other
| Measure | Time frame | Description |
|---|---|---|
| Original Parental Rating Scale (mPRS33) | 12 months | Change in score from baseline from a parental rating scale tailored for INAD, involving elements of activities of daily living and vital functions |
| Modified Infantile Neuroaxonal Dystrophy Rating Scale (mINAD-RS24) | 12 months | Change in score from baseline derived from a structured pediatric neurological development exam tailored for INAD, involving elements of activities of daily living and vital functions. |
| Incidence of Treatment-Emergent Adverse Events | 12 months | The incidence of treatment-emergent adverse events will be presented by severity and relationship to study drug. |
| Modified Parental Rating Scale (mPRS22) | 12 months | Change in score from baseline from a parental rating scale tailored for INAD, involving elements of activities of daily living and vital functions |
| Original Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS40) | 12 months | Change in score from baseline derived from a structured pediatric neurological development exam tailored for INAD, involving elements of activities of daily living and vital functions. |
Countries
United States
Outcome results
None listed