Clinical trial NCT03570931: A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Official title: A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE2
PHASE3
Conditions: Infantile Neuroaxonal Dystrophy
Keywords: INAD
Infantile Neuroaxonal Dystrophy
Lead sponsor: Biojiva LLC
Sponsor class: INDUSTRY
First posted: 2018-06-27
Enrollment: 19
Sex: ALL
Minimum age (years): 18
Maximum age (years): 10
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Single arm open-label study
Primary purpose: TREATMENT

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.

Eligibility criteria: 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

Primary outcomes:
measure: Modified Ashworth Spasticity Scale
timeFrame: 12 months
Secondary outcomes:
measure: INAD Progression Composite
timeFrame: 12 months
measure: Progression Free Survival Time
timeFrame: All available data
Other outcomes:
measure: Modified Infantile Neuroaxonal Dystrophy Rating Scale (mINAD-RS24)
timeFrame: 12 months
measure: Modified Parental Rating Scale (mPRS22)
timeFrame: 12 months
measure: Original Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS40)
timeFrame: 12 months
measure: Original Parental Rating Scale (mPRS33)
timeFrame: 12 months
measure: Incidence of Treatment-Emergent Adverse Events
timeFrame: 12 months
Locations:
city: San Francisco
country: United States
facility: University of California San Francisco, Benioff Children's Hospital
state: California
city: Morristown
country: United States
facility: Jacobs Levy Genomics and Research Program
state: New Jersey
Study officials:
affiliation: Chief Medical Officer
name: Peter Milner, MD
role: STUDY_DIRECTOR
References: