One shot of gene therapy aims to fix a rare Muscle-Weakening disease

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * A diagnosis of moderate to severe DOK7 CMS as defined by: 1. genetic mutation analysis, 2. demonstrated clinical findings such as limb girdle muscle weakness, 3. exercise intolerance. * Is willing to discontinue drugs known to worsen symptoms in DOK7 CMS patients such as 3,4-diaminopyridine (3,4-DAP) and pyridostigmine at least 1 month prior to Day 1. * If being treated with oral salbutamol, is clinically stable, and plans to remain on the same dose for the duration of the study through to EoS (approximately 6 months) - unless a change in dose is medically indicated at the discretion of the PI or designee. * If discontinuing oral salbutamol, is clinically stable, and has been off the medication for at least 1 month prior to Day 1 - unless a change in dose is clinically indicated at the discretion of the PI or designee. * Not pregnant or breastfeeding, or willing to cease breastfeeding. Exclusion Criteria: * Active infections including Epstein-Barr virus (EBV), cytomegalovirus (CMV), positive test for hepatitis C antibody (HCV), hepatitis B surface antigen (HBsAg), human immunodeficiency virus (HIV) antibody. * Have required oral or systemic corticosteroids within the last 14 days prior to Screening. * Rh74 AAV capsid binding antibody titers \> 1:100 as determined by ELISA immunoassay. * Platelet count below the lower limit of normal (LLN) at Screening. * Have received other gene transfer/gene therapy agents. * Clinically significant liver dysfunction, including significant hepatic fibrosis, liver cirrhosis of any etiology identified by liver ultrasound or other imaging modalities, portal hypertension, or a history of hepatic malignancy. * Current or history of clinically significant respiratory failure, including the requirement for long-term supplemental oxygen therapy, non-invasive ventilation, mechanical ventilation, or other evidence of severe respiratory impairment, as determined by medical history, physical examination, or pulmonary function assessment.