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

Phase 2

Active, not recruiting

• Conditions: Infantile Neuroaxonal Dystrophy
• Interventions: Drug: RT001

• Registration Number: NCT03570931
• Lead Sponsor: 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).

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 Timeline

• Study First Submitted: 2018-06-11
• Study First Submitted QC: 2018-06-25
• Study First Posted: 2018-06-27
• Study Start: 2018-11-05
• Primary Completion: 2020-08-09
• Status Verified: 2021-10
• Last Update Submitted: 2021-10-06
• Last Update Posted: 2021-10-14
• Study Completion: 2022-06-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 19

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
RT001	RT001	RT001, oral, 3.84 g/day

Primary Outcome Measures

Name	Time	Method
Modified Ashworth Spasticity Scale	12 months	Change from baseline in the Modified Ashworth spasticity scale.

Secondary Outcome Measures

Name	Time	Method
Progression Free Survival Time	All available data	Progression free survival time (mortality or pneumonia)
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

Trial Locations

Locations (2)

Jacobs Levy Genomics and Research Program; 🇺🇸 Morristown, New Jersey, United States

University of California San Francisco, Benioff Children's Hospital; 🇺🇸 San Francisco, California, United States