In fiscal year 2022, FDA’s Office of Orphan Products Development (OOPD) funded three natural history studies under the Orphan Products Grants program which serve to meet the intent of the ACT for ALS including for ALS, Myotonic Dystrophy Type 1 and Ataxia-Telangiectasia. The study for ALS, partially funded by the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke, has the potential to advance existing knowledge of the natural history of ALS, inform drug development and possibly support future regulatory decisions. The natural history studies include:

• University of Minnesota (Minneapolis, Minnesota); David Walk; Retrospective and prospective study in amyotrophic lateral sclerosis of clinic-based multicenter data collection; $1.6 million over four years
• Johns Hopkins University (Baltimore, Maryland); Howard Lederman; Prospective study in ataxia-telangiectasia; $1.6 million over four years  
• Virginia Commonwealth University (Richmond, Virginia); Nicholas Johnson; Prospective study in myotonic dystrophy type-1 to establish biomarkers and clinical endpoints; $1.6 million over four years

FDA also awarded two contracts:

• RTI International, ALS Functional Ratings Scale-Revised Clinical Outcome Assessment Remote-Use Equivalency Study, ~$1.91 million with a completion date in FY 2025

The ALS Functional Rating Scale-Revised Clinical Outcome Assessment Remote-Use Equivalency Study will adapt a trial endpoint, called the ALSFRS, for remote use. Typically, the ALSFRS is an assessment done by a health care professional in the office. This study will determine whether this assessment could be done at home, decreasing the amount of travel for patients and their families to participate in clinical trials. Additionally, the contract will include a Patient Committee for advice, transparency and oversight. This contract is partially funded by the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke.

• RTI International, Landscape Analysis of Brain-Computer Interface Focused Patient Preference Studies in ALS Patients, ~$330,000 over one year

The goal of this contract is to perform a landscape analysis of patient preference information (PPI) studies focused on brain-computer interface (BCI) devices. FDA is specifically interested BCI devices that communicate with the brain providing patients with the ability to interact with their families and health care professionals. The contract will review the literature to determine what is already known about BCI devices and PPI studies in ALS. This perspective will help inform FDA’s assessment of the benefit-risk profile for these devices and may lay the foundation for future PPI studies for BCIs in ALS patients.