Here are the current and upcoming studies and trials that are relevant to individuals with pathogenic or likely-pathogenic CHD2 haploinsufficiency. You may be eligible for some or all of these -- we hope you will participate in as many as possible! Please refer to the individual study sites for more information.

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

What you have to do: Fill out a survey (approx 15 min)

Eligibility: Diagnosis of pathogenic or likely pathogenic CHD2 genetic variant and change in any 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)

What you have to do: Participate in a clinical trial to test an anti-seizure medication. If you are eligible to participate, you will be part of a 15-week drug trial in which you may receive the drug or you may receive the placebo. Please see the study site for more information. 

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 Lennox-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)

What you have to do: Participate in a clinical trial to test an emergency rescue medicine. If you are eligible to participate, you will test an inhaler during a prolonged seizure. The inhaler may contain the test drug or a placebo. Please see the study site for more information.

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 a new anti-seizure medication in participants with developmental and epileptic encephalopathies (DEEs)

What you have to do: Participate in a clinical trial to test an anti-seizure medication. If you are eligible to participate, you will be part of a 16-week drug trial in which you may receive the drug or you may receive the placebo. Please see the study site for more information. 

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: