Early Clinical Trials of AMO-02 Show Promise in Congenital and Childhood Myotonic Dystrophy Type 1

MedicalResearch.com Interview with:

Joseph Horrigan MD, Pediatric neuropsychiatrist

Dr. Horrigan

Dr. Joseph Horrigan MD
Pediatric neuropsychiatrist

Chief medical officer


MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by myotonic dystrophy? What are the manifestations of this disease?

Response: This was the first pharmaceutical intervention study conducted in adolescents and adults with congenital and juvenile onset DM1. Myotonic dystrophy type 1 (DM1) is a disorder that impacts multiple body systems following a trinucleotide expansion repeat of the DMPK gene on chromosome 19. Children with Congenital DM1 present at birth with respiratory insufficiency, talipes equinovarus (clubfoot), feeding difficulties and hypotonia. There is a risk mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, motor delay and a variety of muscle-based symptoms.

MedicalResearch.com: What are the main findings of the study?

Response: AMO-02 rendered clinical benefit to the majority of subjects after 12 weeks of treatment, with a larger magnitude of response generally apparent at the 1000 mg/day dose level. Improvements were most evident in the subjects’ cognitive functioning, fatigue and ability to perform activities of daily living, as well as in the neuromuscular symptoms of several of the subjects. In addition, co-occurring autism symptoms improved in several subjects. Phenotypic variability at baseline limited the informativeness of performance-based/functional neuromuscular assessments.

MedicalResearch.com: What should readers take away from your report?

Response: These results indicate that AMO-02 may represent a potential treatment for congenital and childhood onset DM1 and support further clinical research. The most informative assessments of efficacy were clinician-completed and caregiver-completed rating scales, which revealed large treatment-associated effects. The scale was derived from a measure previously validated in natural history and intervention studies in myotonic dystrophy. AMO-02 is also being validated in an ongoing natural history study in children and adolescents with congenital DM1 (NCT03059264).

MedicalResearch.com: What future research is planned as a result of this study?

Response: AMO is advancing AMO-02 to a Phase 2/3 registration-caliber study in children and adolescents with congenital myotonic dystrophy. The study will commence later this year and is intended to be conducted at multiple sites across North America and in the UK.

Disclosures: Dr. Horrigan is a salaried employee of AMO Pharma Ltd and holds an equity interest in this company


Heatwole C et al. (2012), Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 79(4): 348–357

Johnson NE et al. (2016), Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Dev Med Child Neurol 58(7):698-705 

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