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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 : Enrolling by invitation
First Posted : June 27, 2018
Last Update Posted : November 8, 2018
Sponsor:
Information provided by (Responsible Party):
Retrotope, Inc.

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

Condition or disease Intervention/treatment Phase
Infantile Neuroaxonal Dystrophy Drug: RT001 Phase 2 Phase 3

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 eligible subjects will be treated with RT001 for long-term evaluation of efficacy, safety, tolerability, and pharmacokinetics.

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 15 participants
Intervention Model: Single Group Assignment
Intervention Model Description: Single arm open-label study
Masking: None (Open Label)
Masking Description: Open Label
Primary Purpose: Treatment
Official Title: A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Actual Study Start Date : November 5, 2018
Estimated Primary Completion Date : June 30, 2020
Estimated Study Completion Date : July 31, 2020


Arm Intervention/treatment
Experimental: RT001
RT001, oral, 3.84 g/day
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




Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.


  4. 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.

  5. 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.


  6. 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


Other Outcome Measures:
  1. 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.



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months to 10 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03570931


Locations
United States, New Jersey
Jacobs Levy Genomics and Research Program
Morristown, New Jersey, United States, 07960
Sponsors and Collaborators
Retrotope, Inc.
Investigators
Study Director: Peter Milner, MD Chief Medical Officer

Responsible Party: Retrotope, Inc.
ClinicalTrials.gov Identifier: NCT03570931     History of Changes
Other Study ID Numbers: RT001-008
First Posted: June 27, 2018    Key Record Dates
Last Update Posted: November 8, 2018
Last Verified: November 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Retrotope, Inc.:
INAD
Infantile Neuroaxonal Dystrophy

Additional relevant MeSH terms:
Neuroaxonal Dystrophies
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases