Motor Neurone Disease Trial, Recruiting

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

• You must be age 5 or older
• You may qualify under one of several groups: (1) you have a genetic diagnosis of ALS4 (a specific gene mutation called SETX); (2) you have a genetic diagnosis of a related condition affecting how the body processes genetic material (such as RNaseH1, RNaseH2, or recessive SETX mutations); (3) you are a healthy family member (first, second, or third degree relative) of someone with one of these genetic mutations; (4) you are an unrelated healthy person with no such family history; or (5) you have a genetic diagnosis of a "gain of function" mutation (for example, certain mutations in SETX or KCC3)
• You must be able to communicate well with the research team and be willing and able to follow the study requirements
• Adults must be able to give their own consent to participate; children must be able to give their agreement (assent) to take part

Who may not be able to join:

• You are pregnant
• You have a known fear of enclosed spaces (claustrophobia), a pacemaker, metal in your body, or any other condition that would make having an MRI scan unsafe (applies to some groups — confirm with trial site)
• You have a diagnosed neuromuscular disease or show muscle weakness on a physical exam (applies to healthy control groups)
• For adults who would be asked to have a spinal fluid sample (lumbar puncture) taken: you have abnormal blood clotting test results, a low platelet count (below 70,000), a history of a bleeding disorder, or you are taking blood-thinning medications — these individuals would not be able to take part in that specific procedure

Important: Always verify eligibility with the trial site directly before applying.