A Study of the Long-Term Effects of Experimental ACE-083 for CMT type 1, CMT type X, or Facioscapulohumeral Muscular Dystrophy

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Age: 18 years or older
Healthy Volunteers: No
Keywords: Charcot-Marie Tooth disease, CMT, type 1 Charcot-Marie Tooth disease, extension study, type x Charcot-Marie Tooth disease, type 1 CMT, type x CMT
Type: Drug study, Phase 2
4 Participants
The purpose of this research is to test the long-term effects of the experimental medicine ACE-083. It will be studied in people who have Charcot-Marie-Tooth disease (CMT). CMT is a disorder that damages the nerves in the arms and legs. This study is for patients with CMT type 1, CMT type X, or Facioscapulohumeral Muscular Dystrophy (FSHD).

Patients are invited to be in this study if they have previously received treatment with ACE-083 and have completed the A083-02 study.

There are two parts to this research study, Part 1 and Part 2. Your participation in this research will involve either participation in Part 1 for 6 months or Part 2 for 24 months.
This study requires

The study team will make sure you qualify to take part in the study. Qualified participants will receive detailed information about the study. This may include a list of study-related tests and procedures.

Who can participate

Inclusion criteria:

  1. Completion of treatment with study drug per protocol and completion of the end of treatment (ET) visit in Study A083-02 or Study A083-03.
  2. Females of childbearing potential (defined as sexually mature women who have not undergone hysterectomy or bilateral oophorectomy or are not naturally postmenopausal ≥ 24 consecutive months) must have negative urine pregnancy test prior to enrollment and use highly effective birth control methods (abstinence, oral contraceptives, barrier method with spermicide, or surgical sterilization) during study participation and for 8 weeks following the last dose of ACE-083. Hormonal birth control use must be stable for at least 14 days prior to Day 1. Males must agree to use a condom during any sexual contact with females of childbearing potential while participating in the study and for 8 weeks following the last dose of ACE-083, even if they have undergone a vasectomy. Subjects must be counseled about contraception prior to the first dose of ACE-083 and every three months thereafter during the study.
  3. Ability to adhere to the study visit schedule/procedures and to understand and comply with protocol requirements
  4. Signed written informed consent Key

Exclusion criteria:

  1. Current/active malignancy (e.g., remission less than 5 years' duration), with the exception of fully excised or treated basal cell carcinoma, cervical carcinoma in-situ, or ≤ 2 squamous cell carcinomas of the skin
  2. Co-morbidities, including symptomatic cardiopulmonary disease, significant orthopedic or neuropathic pain, or other conditions that, in the opinion of the investigator, would limit a subject's ability to complete strength and/or functional assessments
  3. Type 1 or type 2 diabetes mellitus
  4. Thyroid disorder unless condition is stable with no change in treatment for at least 4 weeks before the first dose and no expected change for duration of study
  5. Renal impairment (serum creatinine ≥ 2 times the upper limit of normal [ULN])
  6. Aspartate transaminase (AST) and/or alanine transaminase (ALT) ≥ 3 times ULN
  7. Increased risk of bleeding (i.e., due to hemophilia, platelet disorders, or use of any anticoagulation/platelet modifying therapies up to 2 weeks prior to Study Day 1 and for duration of study; single agent low dose aspirin [≤ 100 mg daily] is permitted)
  8. Severe deformity or ankle fixation that would sufficiently limit passive range of motion to affect functional assessments (TA patients only)
  9. Major surgery within 4 weeks prior to Study Day 1
  10. Chronic pharmacologic doses of systemic corticosteroids (≥ 2 weeks) within 4 weeks before Study Day 1 and for duration of study; intra-articular/topical/inhaled/intranasal physiologic doses of systemic corticosteroids are permitted
  11. Androgens, growth hormone, insulin or oral hormone replacement therapy within 6 months before Study Day 1 and for duration of study; topical physiologic androgen replacement is permitted
  12. Any change in medications potentially affecting muscle strength or function within 4 weeks of Study Day 1 and for duration of study (e.g., creatinine, CoQ10, systemic beta-adrenergic agonists)
  13. Previous exposure to any other investigational agent (not including ACE-083) potentially affecting muscle volume, muscle strength, or muscle or nerve function within 5 half-lives of last dose plus an additional 8-week washout period (or 12 weeks prior to Study Day 1 if half-life is unknown)
  14. Significant change in physical activity or exercise (e.g., significant increase or decrease in intensity or frequency) within 8 weeks before Study Day 1 or inability to maintain the baseline level of physical activity throughout the study
  15. Any condition that would prevent MRI scanning or compromise the ability to obtain a clear and interpretable scan of the treated muscles (e.g., knee/hip replacement metallic implants)
  16. Known active substance abuse, including alcohol
  17. History of sensitivity to protein pharmaceuticals
  18. Female that is pregnant or lactating/breast-feeding
Benefits and risks of participating

We cannot promise any benefits to you as a result of taking part in this research study.


The study doctor will discuss the risks associated with taking part in this research study.
You will not be paid to take part in this research study.
Study duration and period
Participation in this study will last approximately 33 months between both Parts 1 and 2. You will have approximately 33 study visits if you are dosed every 4 weeks during Part 2 of the study. You will have approximately 21 study visits if you are dosed every 8 weeks during Part 2.
Recruitment period
From May 9, 2019
UC Davis Medical Center
2315 Stockton Boulevard
Sacramento, CA 95817
Laura Pulido-Ramirez
Research Topic
  • Facioscapulohumeral Muscular Dystrophy
  • Charcot-Marie-Tooth Disease