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

Retrotope

Status and phase: Active, not recruiting; Phase 3; Phase 2

Conditions: Infantile Neuroaxonal Dystrophy

Treatments: Drug: RT001

Study type: Interventional

Funder types: Industry

Identifiers

NCT03570931

RT001-008

Details and patient eligibility

About

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

Full 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.

Enrollment: 19 patients

Sex: All

Ages: 18 months to 10 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

19 participants in 1 patient group

RT001

Experimental group

Description:

RT001, oral, 3.84 g/day

Treatment:

Drug: RT001