A First-In-Human, Phase 1, Open-Label, Non-Randomized, Single Dose Study to Assess the Safety, Tolerability and Preliminary Efficacy of AMP-101 in Participants Diagnosed With DOK7 Congenital Myasthenic Syndrome

Amplo Biotechnology0 个研究点目标入组 4 人开始时间: 2026年10月1日最近更新: 2026年9月21日

适应症

干预措施

试验速览

阶段: 1 期
状态: 尚未招募
发起方
入组人数: 4
主要终点: Incidence of TEAEs.

研究概览研究设计入排标准研究组 & 干预措施结局指标研究者记录与标识符相似试验

研究概览

简要总结

This study is evaluating the safety and potential effects of AMP-101 in people with DOK7 Congenital Myasthenia Syndrome (CMS). Participants will receive a single dose of the study treatment and will be monitored to assess their health and response to treatment. Approximately 4 participants are expected to take part in the study.

研究设计

研究类型: Interventional
分配方式: Na
干预模型: Single Group
主要目的: Treatment
盲法: None

入排标准

年龄范围: 7 Years 至 —（Child, Adult, Older Adult）
性别: All
接受健康志愿者: 否

入选标准

•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
•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.

排除标准

•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.

研究组 & 干预措施

AMP-101

Experimental

干预措施: AMP-101 (Drug)