This page is dedicated to the Sudden Unexpected Death in Pediatrics (SUDP) 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 Sudden Unexpected Death in Pediatrics (SUDP) research study, established at Boston Children’s in 2012 and led by Drs. Richard Goldstein and Ingrid Holm, has enrolled 650  patients and their families. 

Disease information

Sudden unexpected death in pediatrics (SUDP) encompasses sudden unexplained infant deaths, including sudden infant death syndrome (SIDS) and sudden unexpected death in childhood (SUDC). SIDS is the sudden death of an infant under 1 year of age that cannot be explained after a thorough case investigation that includes an autopsy, a death scene investigation, and a review of the clinical history; SUDC involves similar pediatric deaths over the age of one year.

It is estimated that at least 10-20% of children with SUDP have an underlying genetic cause.  Learn more about SIDS and SUDP at Boston Children’s.

Key outcomes

A recent study the team led focusing on SUDP found that 11% of cases had a clinically actionable genetic result identified.

Genes of interest

SCN1A SCN5A DEPDC5 BRPF1

Participate in research

Families interested in enrolling can email robertsprogram@childrens.harvard.edu. Physicians may also refer their patients affected by SUDP to Drs. Goldstein and Holm. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on the Roberts Program webpage.

Patient care

Families affected by SUDP can be seen by an expert multidisciplinary team in the Roberts Program at Boston Children’s.

Patient stories

In 2018, a 22-month-old toddler was discovered in a prone position with an initial determination of sudden unexplained death. Through genetic testing, Drs. Goldstein and Holm uncovered a variant in a sodium ion channel gene associated with epilepsy, with the findings corroborated by hippocampal abnormalities described in epilepsy. This discovery redefined the narrative surrounding unexplained death, shifting the focus from concern that the parents had done something to a manifestation of epilepsy as a cause of death.

By uncovering underlying vulnerabilities through genetic testing, the medical team not only offered a sense of understanding to the parents but, through cascade testing, assessed risks for their other children and future generations. This case exemplifies the profound impact of genetic insights in unraveling the complexities of sudden unexpected death in pediatrics, shedding light on previously unknown correlations with underlying conditions, encompassing cardiac arrhythmias, epilepsy-associated variants, and previously unrecognized syndromes with lethal presentations, that account for 10% of unexplained child mortality in the United States.

Additionally, the findings of this research are instrumental in providing families with a deeper understanding of their generational medical history and guiding them toward informed decisions and support.

Investigators

Divisions

Notable publications by investigators

 The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths

Disease support organizations

First Candle

First Candle is committed to ending Sudden Infant Death Syndrome (SIDS) and other sleep-related infant deaths while providing bereavement support to families who have experienced a loss.

Sudden Unexplained Death in Childhood Foundation

The Sudden Unexplained Death in Childhood Foundation (SUDC) is the only organization worldwide whose purpose is to raise awareness, fund research, and serve those affected by sudden unexplained death in childhood (SUDC). The SUDC Foundation provides all services at no cost to the people it serves.

Roberts Program

Robert’s Program on Sudden Unexpected Death in Pediatrics (SUDP) is a clinical service offered to families who have lost a child suddenly and unexpectedly, without apparent cause. Our efforts help a family understand the reasons for their child’s death, while providing bereavement support throughout a very difficult time.

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