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

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ClinicalTrials.gov Identifier: NCT03570931
Recruitment Status : Active, not recruiting
First Posted : June 27, 2018
Last Update Posted : October 14, 2021
Sponsor:
Information provided by (Responsible Party):
Retrotope, Inc.

Tracking Information
First Submitted Date  ICMJE June 11, 2018
First Posted Date  ICMJE June 27, 2018
Last Update Posted Date October 14, 2021
Actual Study Start Date  ICMJE November 5, 2018
Actual Primary Completion Date August 9, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: October 6, 2021)
Modified Ashworth Spasticity Scale [ Time Frame: 12 months ]
Change from baseline in the Modified Ashworth spasticity scale.
Original Primary Outcome Measures  ICMJE
 (submitted: June 25, 2018)
Score derived from a structured pediatric neurological development exam tailored for INAD, involving elements of activities of daily living (ADL) and vital functions [ Time Frame: 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.
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: October 6, 2021)
  • INAD Progression Composite [ Time Frame: 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 [ Time Frame: All available data ]
    Progression free survival time (mortality or pneumonia)
Original Secondary Outcome Measures  ICMJE
 (submitted: June 25, 2018)
  • Bulbar function score derived from a structured pediatric neurological development exam tailored for INAD, involving elements of ADL and vital functions [ Time Frame: 12 months ]
    Change in score from baseline in the bulbar function category derived from a structured pediatric neurological development exam tailored for INAD, involving elements of activities of daily living and vital functions.
  • Modified Ashworth spasticity scale [ Time Frame: 12 months ]
    Change from baseline in the Modified Ashworth spasticity scale. The Modified Ashworth scale measures resistance during passive soft-tissue stretching and is used as a simple measure of spasticity. It is performed in the supine position, while moving the limb at the same speed that the limb would move if dropped naturally. It is performed a maximum of three times for each joint, and prior to any stretching of the limb and is scored from 0 to 4, with 4 the most severe measure.
  • Hammersmith and CHOP-INTEND neuro-development scales [ Time Frame: 12 months ]
    Change from baseline in the composite score of the Hammersmith and CHOP-INTEND neuro-development scales. The Hammersmith Infant Neurological Examination (HINE) includes 3 sections containing 26 items that assess different aspects of neurologic function. Section 1 assesses cranial nerve function, posture, movements, tone, reflexes, and reactions. Section 2 assesses developmental milestones. Section 3 is a behavioral assessment. Each section includes 7-10 items scored on a 5-point scale with 0 as the absence of activity, and a maximum score of 4 points. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) is used to evaluate the motor skills of infants. CHOP-Intend includes 16 items used to assess motor skills. Each item is graded on a scale of 0-4 and total score ranges from 0-64. A higher score indicating better motor skills.
  • Parental global clinical impression scale [ Time Frame: 6 and 12 months ]
    Assessment at 6 months and 12 months of parental global clinical impression questionnaire. Parents will complete a questionnaire assessing the effect of study drug on elements of activities of daily living and vital functions.
  • Parental severity assessment and visual analogue scale [ Time Frame: Monthly for 12 months ]
    Longitudinal assessment of monthly parental severity assessment and visual analogue scale. The parents will complete a visual analogue scale assessing the child's mood. The scale is scored 0-5 with 5 being typically happy. The parents will also complete a questionnaire assessing the severity of the impact of the disease on elements of activities of daily living and vital functions.
  • Score derived from a structured pediatric neurological development exam [ Time Frame: 6 and 12 months ]
    Longitudinal assessment at 6 months and 12 months of change in score derived from a structured pediatric neurological development exam tailored for INAD, involving elements of ADL and vital functions
Current Other Pre-specified Outcome Measures
 (submitted: October 6, 2021)
  • Modified Infantile Neuroaxonal Dystrophy Rating Scale (mINAD-RS24) [ Time Frame: 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.
  • Modified Parental Rating Scale (mPRS22) [ Time Frame: 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) [ Time Frame: 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.
  • Original Parental Rating Scale (mPRS33) [ Time Frame: 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
  • Incidence of Treatment-Emergent Adverse Events [ Time Frame: 12 months ]
    The incidence of treatment-emergent adverse events will be presented by severity and relationship to study drug.
Original Other Pre-specified Outcome Measures
 (submitted: June 25, 2018)
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] [ Time Frame: 12 months ]
The incidence of treatment-emergent adverse events will be presented by severity and relationship to study drug.
 
Descriptive Information
Brief Title  ICMJE A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Official Title  ICMJE A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With 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.
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 2
Phase 3
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description:
Single arm open-label study
Masking: None (Open Label)
Masking Description:
Open Label
Primary Purpose: Treatment
Condition  ICMJE Infantile Neuroaxonal Dystrophy
Intervention  ICMJE Drug: RT001
RT001 is encapsulated di-deutero synthetic homologue of linoleic acid ethyl ester. Each capsule contains 960 mg of RT001.
Other Name: Deuterated linoleic acid
Study Arms  ICMJE Experimental: RT001
RT001, oral, 3.84 g/day
Intervention: Drug: RT001
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Active, not recruiting
Actual Enrollment  ICMJE
 (submitted: July 10, 2019)
19
Original Estimated Enrollment  ICMJE
 (submitted: June 25, 2018)
15
Estimated Study Completion Date  ICMJE June 30, 2022
Actual Primary Completion Date August 9, 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Months to 10 Years   (Child)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03570931
Other Study ID Numbers  ICMJE RT001-008
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: Undecided
Responsible Party Retrotope, Inc.
Study Sponsor  ICMJE Retrotope, Inc.
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Study Director: Peter Milner, MD Chief Medical Officer
PRS Account Retrotope, Inc.
Verification Date October 2021

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP