IFCR is passing this information along to you for information purposes; please check with your doctor first to see if your child should participate.
Clinical Research & Trials
Zogenix, now a part of UCB, is pleased to share information about a clinical trial opportunity for patients with CDKL5-related epilepsy. The GEMZ Study is being conducted to learn more about patients with CDKLS deficiency disorder (CDD) and to find out if the study medication fenfluramine hydrochloride can reduce the seizures in patients who have a confirmed mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene which is thought to be causing their disease.
This study is open to patients between the ages of 2 and 35 who have been diagnosed with CDD using both a genetic test and through a clinical diagnosis by a doctor.
Visit the CDKL5 GEMZ Study website for information.
A clinical study for patients with developmental and epileptic encephalopathy
Longboard Pharmaceuticals Completes Enrollment of Phase 1b/2a PACIFIC
Study Evaluating LP352 for the Treatment of Developmental and Epileptic
• Enrolled 52 participants with Developmental and Epileptic Encephalopathies
(DEEs) into the PACIFIC Study
• Participants have a broad range of DEEs including Lennox-Gastaut syndrome,
Dravet syndrome, SCN2A-related epilepsies, CDKL5 deficiency disorder, among
• PACIFIC topline results remain on track for around year-end 2023
While the capability for disease-modifying therapies is accelerating, there is a critical barrier for clinical trial readiness in our CDKL5 community that may result in the failure of these therapies, not due to lack of efficacy but due to lack of validated clinical outcome measures (COMs).
New research is underway to help our CDD community develop appropriate tools for future clinical trials. These tools, known as clinical outcome measures (COMs), will establish clinical trial readiness for CDD and generate historic baseline outcome data, ensuring optimal testing of potential new therapeutics, including gene therapy. There are no measures validated for CDD, and the severity of this condition renders those outcome measures that exist unsuitable.
The IFCR’s CDKL5 Centers of Excellence provide treatment and care to those affected by CDKL5 Deficiency Disorder. Each patient visit also helps us gather data to further clinical research.
Advance Research From Home!
A part of the clinical trials readiness work being done by the ICCRN, participation will involve the collection of video footage of your CDD-affected child’s movement skills. Researchers will provide you with a video checklist that lists the motor tasks for you to video. They will also provide you with online access to a sample video. You will be asked to take video footage in short clips for each of the motor tasks listed in the protocol. The time period required to videotape your child doing these specific activities is ~ 30-45 minutes for gross motor skills and 20 minutes for hand function tasks.
If you would like to participate in this research or discuss any aspect of this study, don’t hesitate to get in touch with Associate Professor Jenny Downs (E: Jenny.Downs@telethonkids.org.au), Associate Professor Helen Leonard (E: Helen.Leonard@telethonkids.org.au), or Dr. Jacinta Saldaris (E: Jacinta.Saldaris@telethonkids.org.au)
We invite all caregivers to enroll in each of these three groups. By working together, we help further research and advocacy efforts for all those affected by CDKL5 Deficiency Disorder.
- Connect CDKL5 – Be included in IFCR research and drug development conversations!
- International CDKL5 Disorder Database (ICDD) – This natural history study is an ongoing collaboration with IFCR since its creation in 2012. ICDD has utilized data provided by caregivers to inform multiple clinical trials and key publications in the scientific and medical literature. The ICDD is managed by researchers at Telethon Kids Institute, an independent non-profit research organization affiliated with the University of Western Australia and co-located with the Perth Children’s Hospital. In an attempt to reduce burden of surveys we have worked to combine information from the ICDD and CDKL5 Registry. Families have the option to consent for data submitted to the CDKL5 Registry to be shared with ICDD. Learn how you can participate.
- CDKL5 Registry – Funded by the LouLou Foundation, the CDKL5 Registry is dedicated to advancing research into the understanding and development of therapeutics for CDKL5 Deficiency Disorder. It is a joint effort of the Orphan Disease Center at the Perelman School of Medicine, University of Pennsylvania.
Using diffusion tensor imaging (DTI), data that is often collected but not processed during routine clinical MRI scans of the brain to evaluate functional and anatomic connectivity for a parallel study in CDD patients and mice.
If you would like to share your child’s MRI(s) for this study, we will ask you to enroll in Boston Children’s Hospital CDKL5 Clinic Study so that they are able to collect identifiable information including MRI CDs and other clinical records that allow them to identify your child’s CDKL5 genotype and phenotype. If you are interested, you can contact their CDKL5 research team at email@example.com or 617-355-5230.
Brain donation is a critical part of CDKL5 research, and we honor the generous and selfless act of those who choose this path after a loved one has died.
The death of a loved one is tragic, and no parent wants to consider the unthinkable. When your loved one passes, an option exists to leave a gift of hope to those who continue to struggle with CDKL5 Deficiency in hopes of a brighter future for the next generations affected by CDD. Organ and tissue donation is a critical part of CDD research and we honor these generous and selfless acts by those who choose this path after a loved one has died.
The International Foundation for CDKL5 Research is collaborating with the Harvard Brain Bank to allow autopsy samples to be safely stored for future investigation. This process takes some time to arrange, please consider this option is before you ever have to to assure your wishes can be honored.
For questions, please contact:
Karen Utley or Heidi Grabenstatter
Email: firstname.lastname@example.org or email@example.com
Harvard Brain Bank
Approved Treatments & Completed Trials
Marigold Study – CDKL5 Deficiency Disorder
*This study received FDA approval on March 18, 2022. Watch this short video to learn more about prescription fulfillment process.
Marinus Pharmaceuticals Announces FDA Approval of ZTALMY® (ganaxolone) for CDKL5 Deficiency Disorder in the US.
First and only FDA-approved treatment for seizures associated with CDKL5 deficiency disorder (CDD) in patients two years of age and older1 ZTALMY significantly reduced major motor seizure frequency in CDD patients in the pivotal Marigold trial.
The Arcade Study Adds Two Rare Disorders, CDKL5 Deficiency Disorder and Duplication 15Q Syndrome, To TAK-935/OV935 Clinical Development
*This study is no longer recruiting
We eagerly await communication from Takeda on how the CDD community might be involved in their global development for Soticlestat recently announced.
Takeda Pharmaceutical Company Limited and Ovid Therapeutics Inc. provided an overview of their TAK-935/OV935 broad clinical development programs and an extension trial for patients with developmental and epileptic encephalopathies (DEEs) who participated in a previous TAK-935/OV935 clinical study. Click here to read the full announcement.
Ataluren was ineffective in reducing seizure frequency or improving cognitive, motor, or behavioral function or quality of life in subjects with either DS or CDD due to nonsense variants.