The NBIA Disorders Association posts the information at this link for informational purposes only. While the organization supports and encourages the discovery of treatments for NBIA individuals and willingly posts information concerning research studies (such as questionnaires and clinical trial enrollment), we do not endorse specific studies. Nor do we advise NBIA individuals or their families to take part in a particular study. Rather, we believe that those decisions are best made by affected individuals and/or their families, in collaboration with their doctors.
For more information, see https://clinicaltrials.gov
Project Title: CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
Responsible Party: Penelope Hogarth, Oregon Health and Science University
The purpose of this study is to learn more about how people with the condition pantothenate kinase-associated neurodegeneration (PKAN) respond to a specialized study product. We are hoping to find out if the study product is safe, what effects—good and bad—the study product causes, and whether the study product changes certain measures of PKAN disease.
Project Title: NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
Responsible Party: Susan Hayflick, Oregon Health and Science University
The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN), PLA2G6-associated Neurodegeneration (PLAN) and Beta-propeller Protein-associated Neurodegeneration (BPAN). The study will be (1) collecting information about how symptoms and findings in NBIA change over time and (2) identifying measures of NBIA that can be used in future clinical trials. Participants will follow links to a secure website every 6 months for a period of 5 years to electronically complete a set of rating scales as related to their NBIA disorder.
Project Title: A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Responsible Party: Retrotope, Inc.
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.
Project Title: Novel Off-label Use of Desipramine in Infantile Neuroaxonal Dystrophy: Targeting the Sphingolipid Metabolism Pathway to Reduce Accumulation of Ceramide
Responsible Party: Yong-Hui Jiang, Duke University
This is a research study to find out if clinically prescribed desipramine is effective at improving the symptoms and slowing the progression of Infantile Neuroaxonal Dystrophy (INAD) in affected children.
The burden falls on us to volunteer for clinical trials if we are ever to have improved treatments or cures. This article contains information about the clinical trial process.