Study of Clinical Features and Biomarkers in ALS4 and Other Inherited Neurological Disorders Affecting RNA Processing

What this Trial Is About

Researchers are studying Amyotrophic Lateral Sclerosis Type 4 ALS4, an inherited motor neuron disease caused by mutations in the senataxin SETX gene, along with other inherited neurological disorders involving RNA processing defects and gain of function mutations. The goal is to understand how RNA-DNA binding units called R-loops relate to disease progression and to identify clinical and molecular biomarkers. These biomarkers may help evaluate future treatments for ALS4 and similar neurological diseases. Participants in this observational study include those with ALS4, other RNA metabolism disorders, gain of function mutations, and healthy control groups. The study involves annual visits over 3 years for ALS4 and disease control participants, and up to 5 years for the gain of function group, with one visit for healthy controls. Evaluations include medical history, physical exams, muscle strength tests, blood tests, skin biopsies, MRI scans, and DEXA scans to measure muscle and body composition. During the study, participants will undergo various assessments such as neuromuscular ultrasound, functional tests like the 6-minute walk, and questionnaires about health and function. Researchers will monitor disease progression using thigh muscle volume and other measures annually. Some tests are optional, and safety monitoring includes pregnancy tests when applicable. Total involvement varies by group, with up to 4 visits over 3 years or up to 11 visits over 5 years, depending on the cohort.

Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing