Name: Acetazolamide Retrospective Study

Lead investigator: Dr. Rhys Thomas, University of Newcastle (UK)

Purpose: To better understand the promising effects of acetazolamide (ACZ - brand name Diamox in US) on CHD2 patients

Eligibility: Diagnosis of pathogenic or likely pathogenic CHD2 genetic variant and change in anti-seizure medication within past 12 months 

Status: Currently recruiting

More information: https://www.curechd2.org/p/CHD2-ACZ-study

Participate in study: https://www.surveymonkey.com/r/S8KC9PD

Name: DEEpOcean Study

Lead Investigator: Longboard Pharmaceuticals

Purpose: Clinical study assessing the safety of the investigational drug and its potential to reduce the number of seizures in children and adults with developmental and epileptic encephalopathy (DEE).

Eligibility: Participants aged 2 to 65 with a diagnosis of DEE who experienced initial seizure activity between birth to 8 years old for people with Lenox-Gastaut Syndrome (LGS) or birth to 5 years old for people with DEE (other) may qualify.

Status: Currently recruiting

More information: https://deepdeestudy.com/ and https://clinicaltrials.gov/study/NCT06719141

Name: STARS (Stand Together Against PRolonged Seizures)

Lead investigator: UCB

Purpose: To test an oral inhaled rescue medication for prolonged seizures (lasting more than 3 minutes)

Eligibility:

• Are 12 years of age or older
• Have focal or generalized epilepsy, or a combination of the two
• Have experienced at least 2 prolonged seizures within the past 3 months
• Have an adult who can act as a study
  partner to assist you throughout the study

Recruiting: Currently recruiting

More information or participate in study: https://www.starsepilepsystudy.com

Name: EMERALD Study

Lead Investigator: Praxis Precision Medicines

Purpose: A Phase 3, randomized, multi-center, double-blind, placebo-controlled clinical trial to evaluate the efficacy, safety, tolerability, and pharmacokinetics of relutrigine in participants with developmental and epileptic encephalopathies (DEEs)

Eligibility: Documented diagnosis of a developmental and epileptic encephalopathy with seizures that began before the age of 12 years

Status: Start date TBD

More information: https://clinicaltrials.gov/study/NCT07010471 

Click here to pre-register for the study

Please participate in the following efforts to collect data about people with CHD2-related disorders: