This page is dedicated to the Chronic Pain and Insensitivity to Pain research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Chronic Pain and Insensitivity to Pain research study, established at Boston Children’s in 2021 and led by Drs. Charles Berde and Catherine Brownstein, has already enrolled 18 patients and their families. The study aims to identify genetic causes of chronic pain and insensitivity to pain and provide personalized medicine.
Disease Information
Chronic pain and insensitivity to pain can be challenging for patients and their families. Several genetic variations have an impact on sensitivity to pain and susceptibility to developing chronic pain.
It is estimated that 30-60% of individuals with chronic pain and insensitivity to pain have an underlying genetic cause for their condition. In his interview on Youtube: Caregiver Profile: Charles Berde, MD, PhD | Boston Children’s Hospital, Dr. Berde discusses his tailored approach to pain management and highlights the integration of research and diagnoses. Learn more about chronic pain and insensitivity to pain at Boston Children’s.
Key Outcomes
To date, 43% of patients have a candidate finding that is being further researched.
Genes of Interest
PRDM12 SCN9A
Participate in Research
Physicians may refer their patients with diagnoses of chronic pain or insensitivity to pain to Dr. Berde. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Berde’s studies, including the Chronic Pain and Insensitivity to Pain study, on the Berde Lab webpage .
Patient Care
Patients and their families with chronic pain or insensitivity to pain can be seen by an expert multidisciplinary team in the Chronic Pain Clinic at Boston Children’s. Learn more about chronic pain and insensitivity to pain.
Patient Stories
In 2024, our team evaluated a patient with pain insensitivity and no variants in the known genes resulting in the inability to feel pain (the most common gene for this syndrome is SCN9A). Dr. Berde’s team used whole genome sequencing technology to look closely at the patient’s genome. They uncovered genetic variants in a gene called PRDM12. Even though a clinical lab had already looked at this gene and didn’t find anything, Dr. Berde’s team saw that the patient had a homozygous repeat expansion known to be pathogenic. This repeat expansion is resulting in the patient’s insensitivity to pain. Boston Children’s Hospital is now in the process of getting this finding CLIA validated so it can be returned to the patient and their family.
Investigators
Divisions
Notable Publications by Investigators
- Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review.
- Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
- Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.
Disease Support Organizations
Creative Healing for Youth in Pain
Creative Healing for Youth in Pain (CHYP) cultivates a supportive online community for youth ages 13-24 and their caregivers while they navigate the challenges of chronic pain. CHYP strives to inspire and empower participants and guide them toward a journey of healing and hope by giving them the tools needed to overcome the obstacles of chronic pain, including creative non-clinical interventions, education and peer support. CHYP aims to provide its participants with community and healing tools without the limitations imposed by geographic location or socioeconomic status.
Meg Foundation
The Meg Foundation empowers families with the skills, strategies, and support they need to manage pain and medical anxiety.
Reflex Sympathetic Dystrophy Syndrome Association
The Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) is a not-for-profit organization with a mission to provide support, education, and hope to all affected by the pain and disability of CRPS/RSD, while driving research to develop better treatments and a cure.
The Coalition Against Pediatric Pain
Founded in 2011 by moms of children with chronic pain and complex medical conditions, The Coalition Against Pediatric Pain (TCAPP) is a nonprofit organization committed to supporting children and familes coping with chronic pain.
Pediatric Pain Warrior
Pediatric Pain Warrior is a program of U.S. Pain Foundation, the leading chronic pain advocacy organization dedicated to serving those who live with conditions that cause chronic pain, as well as their caregivers and care providers.