AOC 1001 for Myotonic Dystrophy

Phase-Based Progress Estimates
1
Effectiveness
1
Safety
Virginia Commonwealth University, Richmond, VA
Myotonic Dystrophy+8 More
AOC 1001 - Drug
Eligibility
18+
All Sexes
What conditions do you have?
Select

Study Summary

This study is evaluating whether a drug can improve muscle strength in people with myotonic dystrophy type 1.

See full description

Eligible Conditions

  • Myotonic Dystrophy
  • Myotonic Dystrophy 1
  • Myotonic Muscular Dystrophy
  • Myotonic Dystrophy, Type 1 (DM1)
  • DM1
  • Dystrophy Myotonic
  • Myotonic Disorders
  • Steinert's Disease

Treatment Effectiveness

Effectiveness Progress

1 of 3

Study Objectives

This trial is evaluating whether AOC 1001 will improve 1 primary outcome and 5 secondary outcomes in patients with Myotonic Dystrophy. Measurement will happen over the course of Through study completion, up to Day 183.

Day 183
AOC 1001 levels in muscle tissue
Change and percentage change from baseline in DMPK mRNA knockdown
Change and percentage change from baseline in Spliceopathy
Frequency of treatment emergent adverse events (TEAEs)
Plasma pharmacokinetic (PK) parameters
Urine pharmacokinetic (PK) parameters

Trial Safety

Safety Progress

1 of 3

Trial Design

4 Treatment Groups

Part B Multiple Ascending Dose: AOC 1001 Dose Levels 2-4
1 of 4
Part A Single Dose: AOC 1001 Dose Level 1
1 of 4
Part B Multiple Ascending Dose: Placebo
1 of 4
Part A Single Dose: Placebo
1 of 4
Experimental Treatment
Non-Treatment Group

This trial requires 44 total participants across 4 different treatment groups

This trial involves 4 different treatments. AOC 1001 is the primary treatment being studied. Participants will be divided into 2 treatment groups. Some patients will receive a placebo treatment. The treatments being tested are in Phase 1 & 2 and have already been tested with other people.

Part B Multiple Ascending Dose: AOC 1001 Dose Levels 2-4
Drug
AOC 1001 will be administered three times.
Part A Single Dose: AOC 1001 Dose Level 1
Drug
AOC 1001 will be administered once.
Part B Multiple Ascending Dose: Placebo
Drug
Saline will be administered three times.
Part A Single Dose: Placebo
Drug
Saline will be administered once.

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: through study completion, up to day 183
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly through study completion, up to day 183 for reporting.

Closest Location

Virginia Commonwealth University - Richmond, VA

Eligibility Criteria

This trial is for patients born any sex aged 18 and older. There are 4 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
The genetic diagnosis of DM1 is made when the CTG repeat length is greater than or equal to 100. show original
A clinician assessed the signs of diabetes mellitus type 1 in a patient show original
The person has to be able to walk independently for 10 meters and they can use ankle braces or orthoses if needed. show original
Key

Patient Q&A Section

Can myotonic dystrophy be cured?

"It is not possible to cure myotonic dystrophy. For some patients, the best course for them may be to live as effectively and with as little disability as possible." - Anonymous Online Contributor

Unverified Answer

What are the signs of myotonic dystrophy?

"Clinically significant myotonic dystrophy was present in 5.5% of our study group. The severity of myotonic dystrophy in the family members of this group of patients was relatively low (average disease scores were not significantly higher for first or second degree relatives) and therefore, there was no recommendation to obtain muscle biopsies in other close relatives where a mutation was identified." - Anonymous Online Contributor

Unverified Answer

What is myotonic dystrophy?

"Myotonic dystrophy is a genetic disease that causes muscle stiffness and weakness. It may cause a progressive loss of muscle strength and progressive damage to organs including the heart, muscles and eye. The most common presenting feature is sudden, severe muscle weakness and the characteristic 'jitteriness' that characterizes myotonic dystrophy symptoms and myotonic signs can be misleading to a range of illnesses causing a similar clinical syndrome. Muscle weakness and muscle jitteriness may also occur as a result of myotonic dystrophy in some people who do not carry the gene. Many cases of myotonic dystrophy are of unknown genetic origin." - Anonymous Online Contributor

Unverified Answer

How many people get myotonic dystrophy a year in the United States?

"An annual estimation of the number of patients diagnosed and treated with a specific condition (such as myotonic dystrophy) in a given country reflects the epidemiological situation, with corresponding estimates made for the different diseases associated with the condition (such as amyotrophic lateral sclerosis). Epidemiological statistics are an important means of making an estimate of the incidence of a particular condition." - Anonymous Online Contributor

Unverified Answer

What are common treatments for myotonic dystrophy?

"There are a variety of treatments for myotonic dystrophy and may include medications and/or physical therapy. A team approach may be advisable. Patients typically receive medication and therapies to enhance muscle strength, flexibility, and endurance, as well as the ability to walk and maintain balance. The primary goal of treatment for myotonic dystrophy is to reduce symptoms. These treatments may include medications used to treat the specific symptoms experienced by the patient, as well as supportive care, such as walking and assisting in daily self-care. Other techniques that may be used include: exercise programmes, muscle strengthening and endurance training, and compensatory techniques of postural stability." - Anonymous Online Contributor

Unverified Answer

What causes myotonic dystrophy?

"A variety of mutations of the myotonic dystrophy gene, 'DM1', cause myotonic dystrophy. 'DM1' is located on chr 15q11.2. The myotonic dystrophy gene, 'DMPK' (DM1 pseudogene), is also known as 'DM3' and is located on chromosome 15 close to myotonic dystrophy. The myotonic dystrophy gene, 'DMPK', encodes myotonic protein kinase, a member of the serine/threonine protein kinase family. 'DM3' encodes a protein kinase domain. The two genes are very closely related, showing a high degree of conservation." - Anonymous Online Contributor

Unverified Answer

What is the average age someone gets myotonic dystrophy?

"The average date of age at onset of myotonic dystrophy differs from the birth year, leading some to question whether the disease is a true age-dependent, multisystemic degenerative disorder or a rare sporadic disease, with the onset of the disease being linked to any age-associated event. The average age at onset was 40 yr.9 yr, which is higher than reported in previous reports. Age, however, is not the only factor that can exacerbate or impede progress in most other diseases." - Anonymous Online Contributor

Unverified Answer

How does aoc 1001 work?

"While [FMO5]/aoc 1018 is an inhibitor of [FMO5]/aoc 1019, both are still active in pre-clinical models and in vivo experiments. Furthermore, they are non-toxic to cultured cells, and are being pursued in preclinical studies.\n" - Anonymous Online Contributor

Unverified Answer

What is the primary cause of myotonic dystrophy?

"Myotonia is inherited in an autosomal dominant fashion. The primary mutation in myotonic dystrophy is within the dystrophin gene (DMD), encoded on the dystrophin locus, on human chromosome 19. Multiple mutations in the DMD locus are possible. DMD is a protein-truncating myotonic dystrophy.\n\n- C.D.E." - Anonymous Online Contributor

Unverified Answer

How serious can myotonic dystrophy be?

"Patients with DM1 present with symptoms consistent with myotonic dystrophy. This finding indicates an awareness of the clinical features and treatment plan is extremely important, because early detection of neurological signs can help preserve muscle function through proper muscle nutrition and training, and treatment can slow or halt the disease progression. Additionally, because patients with DM1 are at risk for diabetes, early screening and careful nutrition may lead to early detection and treatment options for DM1 and diabetes." - Anonymous Online Contributor

Unverified Answer

Is aoc 1001 safe for people?

"Aoc 1001 may be safe to administer to people with DM2 treated with glargine as no safety concerns are evident from the available clinical data." - Anonymous Online Contributor

Unverified Answer

What is aoc 1001?

"This observation is the first to provide evidence for the existence of aoc 1001. We confirm that aoc 1001 may impair the function of the mitochondrial ATP synthase in a mouse model of aoc disease." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
See if you qualify for this trial
Get access to this novel treatment for Myotonic Dystrophy by sharing your contact details with the study coordinator.