The Cerebral Palsy research study, established at Boston Children’s in 2019 and led by Dr. Siddharth Srivastava, has enrolled over 300 patients and their families. The study aims to identify genetic causes of cerebral palsy and provide personalized medicine.
Overview
This page is dedicated to the Cerebral Palsy 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.
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Disease information
Cerebral palsy (CP) is the most common motor disability of childhood. CP is a group of disorders that affect muscle tone, posture, and movement as a result of injury to or malformation of the developing brain. There are several subtypes of CP:
- Spastic monoplegic
- Spastic hemiplegic
- Spastic diplegic
- Spastic quadriplegic
- Hypotonic
- Ataxic
- Dyskinetic
- Mixed
It is estimated that 14-25% of individuals with CP have an underlying genetic cause for their CP. In his interview on Youtube: Why I got involved with rare disease research, Dr. Srivastava advocates for greater attention to understanding the genetic contributions of CP. Learn more about CP.
Key outcomes
20% of patients with diagnostic variants, of whom the majority have had changes in care delivery/clinical management, an additional 20% of patients with candidate findings that are being further researched; and diagnosis of patients with variants that span a diverse range of biological pathways.
Genes identified in study patients
ABHD16A ADAT3 AHDC1 AMPD2 ASXL3 ATL1 B4GALNT1 CACNA1A CHD3 CHD8 CLTC COL4A1 COL4A2 CTNNB1 DNMT3A EBF3 ECHS1 ELP1 ENG FOXG1 FRMPD4 GCH1 GNAO1 GNB1 HEXA ITPR1 KCNB1 MAPK8IP3 MECP2 PDHX POLR2A POLR3B RARB RASA1 SATB2 SLC16A2 SLC2A1 SOX2 SPAST SPTAN1 THOC2 TRIP12 TUBB2A TUBB3 ZMYM2
Participate in research
Physicians may refer their patients with diagnoses of CP to Dr. Srivastava. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Srivastava’s studies, including the CP study, on the Srivastava lab webpage.
Patient care
Patients and their families with CP can be seen by an expert multidisciplinary team in the Cerebral Palsy and Spasticity Center at Boston Children’s. Learn more about CP.
Patient stories
In 2022, the team evaluated a 20-year-old patient with cerebral palsy and stroke and identified a genetic cause resulting from a misspelling in the COL4A1 gene. This discovery provided a genetic answer for both perinatal stroke and cerebral palsy, which was a surprise to the family, who attributed his cerebral palsy to a perinatal injury. The diagnosis prompted changes in this patient’s management plan to include screenings for eye, kidney, and heart problems that are seen in association with this genetic condition. This case is an example that it is not too late to get a genetic answer, even later in life, which can change the patient’s care plan and provide many families with a sense of closure.
Investigator
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Notable publications by investigator
Disease support organizations
Cerebral Palsy Research Network
CP Palsy Research Network, a nonprofit organization, works to optimize the lifelong health and wellness of people with cerebral palsy and their families through high quality research, education and community programming.