Quality of Life and CMT Research

by | Jul 7, 2014 | 4 comments

Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal. For many CMT patients, their condition is manageable and not worth the risk of potential harmful effects of drugs or other therapeutic options. However, many are terribly suffering and would benefit from participating in clinical studies that could have therapeutic benefits. In addition to safety and efficacy, the measurement of patient-reported outcomes is critical when clinical trials are developed for inherited neuropathies. It is well documented that for CMT (and many of the neuromuscular diseases), there are poor clinical outcomes measurement instruments and methods for validating the potential use of treatments for these diseases. HNF has developed two clinical studies that can increase the chances of successful future trials and ensure drug therapies will come to market for CMT.

Assuming the hurdles are overcome in the development of safe treatments, it’s still imperative to the success of therapy development to have valid primary and secondary outcomes measures.  Although there are some valid novel instruments such as, NIH’s PROMIS® and Neuro-QOL, in comparison to more established tools, such as the Child Health Questionnaire, Short Form- 12/36, and EQ-5D we still lack strong methods that measure QoL as well as outcomes measures for the disease.

Later this year, HNF will launch a health-related QoL clinical study in collaboration with three neuromuscular centers that will enhance clinical endpoints used for determining benefits or negative effects of potential treatments. Our goal is to develop a clear method for determining the clinical utility of potential treatments for CMT and related neuromuscular diseases. The study will be led by Dr. Renée J. Goldberg Arnold, PharmD, President and CEO, Arnold Consultancy & Technology LLC, NYC, where she develops and oversees outcomes research and affiliated software for industry and the federal government. Her special interest in evidence-based health derives from her research that deals with use of technology to collect and/or model real-world data for use in rational healthcare decision-making by healthcare practitioners and policy makers. Dr. Arnold’s academic titles include Adjunct Associate Professor, Master of Public Health (MPH) program, Department of Preventive Medicine at the Mount Sinai School of Medicine, where she has developed the pharmacoeconomics coursework and is a preceptor for MD/MPH students completing their MPH practicums. She is also Full Adjunct Professor, Div. of Social Sciences, at Long Island University College of Pharmacy and Health Sciences, including as a preceptor for students completing rotations in health outcomes and pharmacoeconomics. Dr. Arnold is a founding member of the International Society for Pharmacoeconomics and outcomes Research (ISPOR) and is an author/coauthor of numerous articles and book chapters in the areas of pharmacology, pharmacoeconomics and cost containment strategies. As Dr. Renee Arnold has adjunct faculty positions at several institutions (Mount Sinai, LIU) and has led multiple US-government, as well as commercially-funded studies, she is well qualified to provide a mutually supportive interaction between scientists conducting clinical research.

If you are interested in supporting our clinical study, please contact Allison Moore at [email protected].

Learn more on this topic

Related Blog Posts

New Study on CMT Type 2B

If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs.

Allison Moore is going to be published!

HNF’s CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with Allison Moore and her two “fighter Mom” friends Lori Sames and Jill Wood. He named his blog: “Rare disease heroes – Extraordinary collaborators we should be listening too.” Sean helped my friends and I write a paper called: “Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery.” YES, Allison Moore is going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.

HNF-WVU-NIOSH Study update:

We are pleased to update our readers on the progress of the WVU-NIOSH study, “A Bi-Directional Translational Model of Exercise Training in the Treatment of Charcot-Marie-Tooth Disease”

Dr. Robert Baloh Answers Our Questions About iPS Cell Research

Big news is happening on a cellular level at Cedars-Sinai Medical Center’s Regenerative Medicine Institute in Los Angeles, CA.  Robert H. Baloh, MD PhD, Director of Neuromuscular Medicine, in conjunction with Patrick D. Lyden, MD Neurology Dept. Chair, and Clive Svendsen, PhD, Institute Director, are studying disorders that start in nerve cells. 

Join the conversation

Leave a Comment


  1. Tristen Chernove

    I have CMT and am interested in participating in trials. I have been very active and fit all my life (now 39 years old), competing at the world level in paddlesports, representing Canada at two World Championships. I now cycle somewhat competitively as I want to use my legs as much as I can, while I still can.

    • courtney

      Please take 30 minutes of your time and register for the Global Registry for Inherited Neuropathies and you will be contacted for any upcoming trials.

  2. Tammy

    I have CMT, female n 50 yrs old. Live in Baltimore Maryland

  3. Kena Gottier

    I have CMT and am interested in participating in any open trials and/or studies.


Submit a Comment

Your email address will not be published. Required fields are marked *


Join for notifications on events, campaigns, & news