Congenital Myasthenia SyndromePhase 1NCT07830563
Evaluating the Safety and Effects of AMP-101 in People With DOK7 Congenital Myasthenia Syndrome
A Phase 1 study testing AMP-101 in people with Congenital Myasthenia Syndrome, run by Amplo Biotechnology.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Congenital Myasthenia Syndrome
- What is being tested?
- AMP-101
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- No sites listed yet
- Study dates
- 1 Oct 2026to 1 Oct 2031
- Phase
- Phase 1
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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
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.
- Conditions
- Congenital Myasthenia Syndrome
- Being tested
- AMP-101
- Medical subject headings
- Myasthenic Syndromes, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AMP-101Drug
Route of Administration: intravenous infusion Unit Dose Strength: 5.02 x10^13 Vg/ml in a volume of 1 mL/vial
| Study group | Role | What they receive |
|---|---|---|
| AMP-101 | Experimental | Not described Receives: Drug: AMP-101 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of TEAEs.
Measured: From Screening to Day 180 (EOT visit)
Incidence of AESIs (Adverse events of special interest)
Measured: From Screening to Day 180 (EOT visit)
Incidence of SAEs.
Measured: From Screening to Day 180 (EOT visit)
Number of participants with abnormal vital signs
Measured: From Screening to Day 180 (EOT visit)
Number of participants with abnormal ECG readings
Measured: From Screening to Day 180 (EOT visit)
Number of participants with abnormal Laboratory findings
Measured: From Screening to Day 180 (EOT visit)
Incidence of anti-AAV antibodies.
Measured: Day 28, Day 63, Day 90 and Day 180 (EOT visit)
Secondary outcomes (2)
Changes in Modified QMGS (Quantitative Myasthenia Gravis Score) from baseline
This will be assessed by a Test comprising 13 physician-evaluate items endorsed by Myasthenia Gravis Foundation of America (MGFA).
Measured: Days 1, 28, 56,90 and Day 180 (EOT visit)
Changes in MG-ADL (Myasthenia Gravis Activities of Daily Living Scale) score from baseline
This will be assessed by an 8-item patient-reported scale containing 2 items of daily life activities, and 6 items reflecting MG symptoms. The tests assess functional impact of MG using 0-3 scaling system, with scoring range from 0 to 24
Measured: Days 1, 28, 56,90 and Day 180 (EOT visit)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2026
- Study start1 Oct 2026 (estimated)
- Primary completion1 Oct 2028 (estimated)
- Study completion1 Oct 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Myasthenia SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Amplo Biotechnology
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07830563
- Sponsor's protocol ID
- AMP-101-001
- Status last verified
- Sep 2026
- First submitted
- 15 Sep 2026
- Last updated
- 21 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No