HNF launched the GRIN (Global Registry and Integrated Network) with four research study surveys designed to capture robust patient data and accelerate therapy development for Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies (IN). The studies support HNF’s therapy development pipeline and collaborations with biotech, pharma, and other stakeholders.

Natural History Study (NHS)

Why it matters: Participating in the Natural History Study helps HNF and its collaborators identify important trends and comorbidities (other conditions that may arise in the context of CMT/IN) within the patient experience. These insights shape the direction of future research and therapeutic development.

How it works: The NHS documents a patient’s experience from diagnosis onward. Participants create a profile capturing detailed information on their disease type, diagnosis, functional challenges, pain experience, quality of life, and other issues associated with CMT/IN.

Respiratory Dysfunction Study

Why it matters: Respiratory dysfunction has become a recognized complication of CMT/IN that requires greater attention from the medical community. This study helps healthcare providers better understand, diagnose, and develop standard treatment options for affected patients. HNF’s TRIAD research program has identified respiratory dysfunction as an urgent priority.

Important note for patients and caregivers: One of the most common treatment errors for people with CMT/IN and respiratory dysfunction is the use of supplemental oxygen therapy. John R. Bach, MD, Professor of Neurology and Medical Director of the Center for Non-Invasive Mechanical Ventilation at Rutgers, has compared oxygen use in this population to “putting a Band-Aid on a cancer.” Dr. Bach explains that oxygen should never be used for people with neuromuscular conditions unless pneumonia has required intubation and intensive care. Supplemental oxygen can suppress the brain’s drive to breathe, allowing carbon dioxide to build to dangerous levels and potentially causing the person to stop breathing entirely. Learn more at Breathing and CMT.

Voice Activation Technology (VAT) Research Study

Why it matters: For patients living with pain and emotional challenges, voice-based data collection can capture symptom impacts, including the experience of pain and its effect on behavioral health, in ways that written surveys cannot.

How it works: Participants call a toll-free number, where an automated system asks brief questions and allows for opt-in consent. HNF describes this study as a first step toward developing a modernized instrument for potential use in clinical trials for CMT/IN and other rare and common diseases.

“By using the patient’s own voice we are able to collect added texture and emotion to responses that forms can simply not deliver.”, Allison Moore, CEO and Founder, HNF

Medical Cannabis Study

Why it matters: Medical cannabis is being used by some members of the CMT/HNPP community to manage symptoms, and its use is growing in mainstream medicine. Whether or not you currently use cannabis, your participation helps researchers better understand its role in treatment.

How it works: HNF, in partnership with Champlain Valley Dispensary, is conducting a medical cannabis survey for CMT/HNPP patients. The survey covers types, amounts, methods of consumption, and how cannabis is used as part of a treatment approach.

Why Participation Matters

Completing a study profile may also make you eligible to participate in patient studies and clinical trials that could lead to new treatments for CMT/IN. Join GRIN and add your voice to this groundbreaking work.