NH00004 IONIS Chart Review FUS-ALS

• Research type

  Research Study

• Full title

  A Retrospective Chart Review Study of the Natural History and Disease Progression in Amyotrophic Lateral Sclerosis Patients with Fused in Sarcoma Mutations (FUS-ALS)

• IRAS ID

  334139

• Sponsor organisation

  Ionis Pharmaceuticals, Inc.

• Duration of Study in the UK

  1 years, 0 months, 31 days

• Research summary

  This is a Retrospective, observational, study that will collect pseudonymised patient data from existing medical records of patients with Amyotrophic Lateral Sclerosis with Fused in Sarcoma Mutations (FUS-ALS) and record in the study eCRF.
  FUS-ALS is a rare disease, and its exact prevalence is not known. The natural history, particularly with regards to the variability of disease progression, remains largely uncharacterized. The unmet need in this disease is high as there are no available disease-modifying treatments.
  Published reports on FUS-ALS include retrospective chart reviews with a very limited number of patients and variable periods of follow-up. Therefore, there is a lack of real-world data describing the longitudinal evolution of FUS-ALS clinical characteristics, and patterns and variability of disease progression.
  Medical records or registry data from approximately 100-150 patients are planned to be included in this study, selected from multiple sites worldwide.
  The data will be collected from the retrospective time period from 01 Jan 2000 to End-of-Study Period (currently projected for 22 Dec 2023) only and no current or prospective data collection will occur. Eligible patients may be deceased or still alive at time of study start.
  For each participant, data will be extracted back since the first record of a sign or symptom suggestive of ALS disease process onset until the earliest of death or death equivalent, last chart record, or end of study observation period. In addition, medical, developmental, educational, and treatment history before onset will also be ascertained. The study will end when the data of the last participant are fully extracted. No direct participant identifiers (e.g., participant name, initials, institutional identification numbers, medical record number, complete date of birth, etc.) will be collected.
  The data collected in this retrospective natural history study will be critical in supporting future clinical trials to address the unmet need in this rare disease.

• REC name

  Yorkshire & The Humber - Leeds West Research Ethics Committee

• REC reference

  23/YH/0283

• Date of REC Opinion

  17 Jan 2024

• REC opinion

  Further Information Favourable Opinion