This page is dedicated to the Cerebrovascular Disorders 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 Cerebrovascular Disorders research study, established at Boston Children’s in 2022 and led by Drs. Siddharth Srivastava, Edward Smith, Darren Orbach, Katie Fehnel, Alfred See, and Laura Lehman, has already enrolled 35 patients and their families. The study aims to identify genetic causes of cerebrovascular disorders and provide personalized medicine.

Disease information

Cerebrovascular disorders (CVDs) / vascular malformations of the brain are a group of conditions that affect the blood vessels in and around the brain and spine. They include:

  • Moyamoya angiopathy
  • Cerebral cavernous malformations
  • Vein of Galen malformations
  • Arteriovenous malformation
  • Intracranial arteriovenous fistulas

Children with CVD face the risk of brain hemorrhage or stroke, conditions that can cause serious harm to the brain.

The genetic causes of CVD are still being actively researched and some key genes have already been identified. In his interview on Youtube: Meet Dr. Edward Smith | Boston Children’s Hospital, Dr. Smith discusses how translational research in the Cerebrovascular Center has led to rapid advancements in treatment. Learn more about CVDs treated at Boston Children’s.

Genes of interest

NOTCH3 HTRA1 RNF213 COL4A1 COL4A2 KRIT1

Participate in research

Physicians may refer their patients with cerebrovascular disorders to Drs. Srivastava, Smith, Orbach, Fehnel, See, or Lehman. 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 Srivastava lab webpage, Dr. Smith’s research profile, Dr. Orbach's research profile, Dr. Fehnel’s research profile, and Dr. Lehman’s publications.

Patient care

Patients and their families with cerebrovascular disorders can be seen by an expert multidisciplinary team in the Stroke and Cerebrovascular Center at Boston Children’s.

Patient story

In 2023, the team evaluated a six-year-old boy with epilepsy in the setting of multiple cerebral cavernous malformations and found a misspelling in the KRIT1 gene that is a known genetic cause of multiple cavernous malformations. This discovery not only provided a definite diagnosis that changed the patient's care management but also prompted the testing of other family members. The diagnosis also led the clinical team to be vigilant about the potential associated symptoms such as vascular malformations in the spinal cord and other manifestations outside the nervous system, such as in the skin and retina.

Investigators

Divisions

Notable publications by investigators

Yield of genetic evaluation in non-syndromic pediatric moyamoya patients

Disease support organizations

Alliance to Cure Cavernous Malformation

Alliance to Cure Cavernous Malformation is a nonprofit organization that informs, supports, and mobilizes those affected by cavernous malformations and drives research for better treatments and a cure.

Moyamoya Foundation

Moyamoya Foundation, a nonprofit organization, promotes awareness of moyamoya disease by working with healthcare professionals and patient advocates, supports and encourages research of moyamoya disease, and provides assistance to families/patients undergoing moyamoya treatment for expenses not covered by insurance. 

Trusted sites

NORD Report