Evaluating the Safety and Effects of AMP-101 in People With DOK7 Congenital Myasthenia Syndrome

Inclusion criteria

• A diagnosis of moderate to severe DOK7 CMS as defined by:

• genetic mutation analysis,
• demonstrated clinical findings such as limb girdle muscle weakness,
• 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.