AMO Pharma launches clinician-completed rating scale for congenital myotonic dystrophy type 1

LONDON: AMO Pharma Limited ("AMO Pharma"), a privately held biopharmaceutical company focusing on rare, childhood-onset neurogenetic disorders with limited or no treatment options, recently announced the presentation of a new clinician-completed rating scale to assess features of congenital myotonic dystrophy type 1 (CDM1).

An overview of the new rating scale was presented on Monday, April 15^th in a poster presentation titled, "The Development of the Clinician-Completed Congenital Myotonic Dystrophy Type 1 Rating Scale (CDM1-RS)" led by Joseph Horrigan MD, AMO Pharma's chief medical officer, during The Muscular Dystrophy Association (MDA) Clinical & Scientific Conference at the Hyatt Regency Orlando.

Commenting on the launch, Michael Snape, chief executive officer of AMO Pharma said, "Standard assessment tools should be used to follow FDA guidelines and capture all of the characteristic symptoms of a condition to be useful in clinical trials. To that end, the CDM1-RS rating scale has been evolved from the well-validated MDHI and CCMDHI measures developed by professor Chad Heatwole and professor Nicholas Johnson in the hope it can become a widely accepted clinician instrument for CDM1."

"The availability of scale to assess CDM1 can expand our understanding of this disorder, streamline the diagnostic process and could provide essential insights to guide future clinical research," he added.

CDM1 is a genetic disease caused by a large tri-nucleotide expansion repeat adjacent to the DMPK gene. Symptoms usually present shortly after birth and include difficulty with thinking and problem solving, speech impairment, symptoms of autism and weakened muscles. There are currently no approved therapies for CDM1. Patients are often treated with a combination of medical interventions designed to address individual symptom as they arise.

The fit-for-purpose scale identifies 11 observable characteristics of CDM1 and rates each on a four-point Likert scale, using information from natural history studies, consultation with therapeutic area experts and feedback from regulatory agencies. An evaluation of the scale's use in a clinical study found it has potential to effectively assess the CDM1 phenotype in a low-burden manner, is change-sensitive, can detect treatment effects and may provide useful outcome measure for future clinical trials.

"This is a major milestone for researchers looking to enhance our understanding of this disorder, drawing insight from the experiences of other patients and caregivers in a reproducible manner and incorporating advice from the FDA," said Dr Horrigan. "We look forward to broadening the scope of this scale so that we may better address the current and future needs of this largely underserved community."

This clinician-completed rating scale will serve as the primary outcome measure in a Pharma Phase 2/3 registration-calibre study in children and adolescents with CDM1 being planned by AMO Pharma. It is also being validated in an ongoing natural history study in children and adolescents with CDM1.

Congenital myotonic dystrophy (CDM1) is a genetic disease that typically presents at birth. People living with CDM1 typically experience difficulty with thinking and problem-solving. They may also experience speech difficulties, symptoms of autism and weakened muscles. Patients are at risk of early death.

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