Inherited peripheral neuropathies (IPN) represent a large group of neurological diseases and disorders characterized by length-dependent progressive degeneration of the peripheral nervous system. Charcot-Marie-Tooth (CMT), or hereditary motor sensory neuropathy (HMSN), is the most common IPN, with debilitation that greatly impacts patients’ quality of life. CMT is a complex disease with many genes involved. Phenotypes vary significantly and genetic heterogeneity is extensive—even within families with multiple members with CMT. Hereditary Neuropathy with Liability Pressure Palsy (HNPP) is the second most common form, also affecting the peripheral nerves but, as the name suggests, involving short periods of pressure that can result in tingling, numbness, weakness, pain, and sometimes paralysis in the affected areas. Most CMT/HNPP patients suffer for years before being properly diagnosed.
The CMT/HNPP patient community has continuously expressed concerns about the impact pain (neuropathic as well as musculoskeletal) is having on their daily lives. Their chronic pain stems from the disease itself, as well as pain resulting from the limited symptomatic treatments currently available (i.e., surgery, improper use of braces and/or AFOs). Additionally, there is the emotional pain of living with a chronic illness, especially for children and young adults navigating living with the disease. Yet, there is little work being done to address the critical and debilitating symptoms of CMT/HNPP in the clinic or in the lab. The 2017 Patient-Centered CMT/HNPP Pain Summit will actively engage and involve all community stakeholders to determine the factors impacting CMT/HNPP patients’ pain management and wellness. This summit will identify the knowledge gaps for research and care related to pain in CMT/HNPP and will provide information to help patients and caregivers assess and access currently available pain management options and disseminate learnings. CMT/HNPP patients and community members are integral to the program’s success. As a result, the project team has rigorously included them in every facet of the program’s development.
- Educate stakeholders on chronic pain etiology and mechanisms
- Demonstrate the impact chronic pain is having on patients/caregivers dealing with CMT/HNPP
- Through panel discussions and open forums, identify research and clinical gaps in assessing chronic pain and CMT/HNPP
- Evaluate existing pain resources (reporting tools, evaluations/assessments, PROs, treatments/therapies) to assess CMT/HNPP applicability
- Active polling/surveying of patient community and related healthcare providers to evaluate current state of CMT/HNPP pain care and research
- Bring together all stakeholders in a summit event to discuss and document what is known/where gaps exist
- A better understanding of chronic pain with CMT/HNPP
- Durable materials and toolkits to educate beyond the summit
- Ongoing collaborations among stakeholders to address patient, researcher, and healthcare provider needs
The Hereditary Neuropathy Foundation is the project leader. The project team looks forward to working with the Academy of Integrative Pain Management and the American Association of Neuromuscular and Electrodiagnostic Medicine to aid in content development and dissemination of findings to their memberships.
Project Resource: Conference Program
Project Resource: Lay Conference Summary