for people ages 18 months to 10 years (full criteria)
at San Francisco, California and other locations
study started
estimated completion



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

Official Title

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


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.


Infantile Neuroaxonal Dystrophy, INAD, Neuroaxonal Dystrophies


You can join if…

Open to people ages 18 months to 10 years

  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

You CAN'T join if...

  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


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


in progress, not accepting new patients
Start Date
Completion Date
Retrotope, Inc.
Phase 2/3 Infantile Neuroaxonal Dystrophy Research Study
Study Type
About 19 people participating
Last Updated