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

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

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

Study Overview

• Status: Active, not recruiting
• Conditions: Infantile Neuroaxonal Dystrophy
• Intervention / Treatment: Drug: RT001

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: Interventional
• Enrollment (Actual): 19
• Phase: Phase 2; Phase 3

Contacts and Locations

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94158
      • University of California San Francisco, Benioff Children's Hospital
  • New Jersey
    • Morristown, New Jersey, United States, 07960
      • Jacobs Levy Genomics and Research Program

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 10 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / 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 Names: Deuterated linoleic acid

What is the study measuring?

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Modified Infantile Neuroaxonal Dystrophy Rating Scale (mINAD-RS24)	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.	12 months
Modified Parental Rating Scale (mPRS22)	Change in score from baseline from a parental rating scale tailored for INAD, involving elements of activities of daily living and vital functions	12 months
Original Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS40)	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.	12 months
Original Parental Rating Scale (mPRS33)	Change in score from baseline from a parental rating scale tailored for INAD, involving elements of activities of daily living and vital functions	12 months
Incidence of Treatment-Emergent Adverse Events	The incidence of treatment-emergent adverse events will be presented by severity and relationship to study drug.	12 months

Collaborators and Investigators

• Sponsor: Retrotope, Inc.
• Investigators: Study Director: Peter Milner, MD, Chief Medical Officer

Study record dates

Study Major Dates

• Study Start (Actual): November 5, 2018
• Primary Completion (Actual): August 9, 2020
• Study Completion (Anticipated): June 30, 2022

Study Registration Dates

• First Submitted: June 11, 2018
• First Submitted That Met QC Criteria: June 25, 2018
• First Posted (Actual): June 27, 2018

Study Record Updates

• Last Update Posted (Actual): October 14, 2021
• Last Update Submitted That Met QC Criteria: October 6, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Keywords: INAD; Infantile Neuroaxonal Dystrophy
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuroaxonal Dystrophies
• Other Study ID Numbers: RT001-008

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No