Clinical Trials Directory

For patients and their families, research means there is hope!


Where there is research for the advancement of treatments and cures, there are accompanying clinical trials. Educational information on clinical trials can be found on our Patient Participation in Clinical Trials page.

This page includes clinical trials, listed alphabetically by condition/trial focus, sponsored or submitted by our partners. All clinical trials listed on this page are registered with Trials are also listed in our Disorder Directory under the “resources” tabs of specific disorders.

If you have a pediatric neurologic study that you would like added to this page, click here and send us your trial title and link. CNF is happy to help with promotion and dissemination of your clinical trial opportunity.

Congenital Myasthenic Syndromes (CMS)

CMS-001 Clinical Study: A clinical study for patients with CMS. Catalyst Pharmaceuticals and your doctor are trying to learn if the oral investigational medicine – amifampridine phosphate – can be safe and effective for the treatment of people with CMS. WHAT do You Need to Know? Learn more at

Creatine Transport Deficiency (CTD)

With only limited prospective longitudinal data available on Creatine Transporter Deficiency (CTD), its natural history is incompletely understood. This international study is designed to provide additional insights into disease progression, to characterize how patients perform on clinical neurodevelopmental assessments, and to evaluate magnetic resonance spectroscopy (MRS) and event-related potentials (ERPs) in patients with CTD. More information about enrollment. Learn more about CTD from the Association for Creatine Deficiencies.

CNF is pleased to share this information on behalf of Lumos, a member of our Corporate Advisory Board.


The sole purpose of the HERO website is to make it easier for people to find and enroll in clinical studies and advance epilepsy research.

Glut1 DS

Ultragenyx and Adelphi Values have developed an electronic diary to explore the daily symptom and impact experience of Glut1 DS. We would like to test the Glut1 DS Symptom Diary with individuals with Glut1 DS and caregivers of individuals with Glut1 DS and obtain feedback about its use and content. Questions? Contact Nicola Moss

A Phase 3 study of UX007 is now open for enrollment for people who have a movement disorder associated with Glut1 DS. People who are doing well and who are stable on the ketogenic diet should NOT discontinue the diet in order to participate in this study. Contact your physician or click here for more information and eligibility.

CNF is pleased to share this information on behalf of Ultragenyx, a member of our Corporate Advisory Board.

Lennox-Gastaut Syndrome (LGS)

LGS Foundation, in partnership with the Epilepsy Genetics Initiative, is piloting a project called LEEP: the LGS/EGI Exome Project, to fund the exomes of a limited number of patients in EGI. The goal is to test the feasibility of funding exomes for patients that cannot get the test covered by their insurance company and to advance gene discovery in LGS. If successful, more families may be able to get exome testing through EGI and more LGS genes may be found. EGI is an initiative created by CURE and NINDS to advance precision medicine in epilepsy. EGI has created a centralized database to hold the exome and genome sequence data of people with epilepsy. The data is analyzed every six months and if a cause is found, it is reported back to the treating physician. Participants may also choose to share their EGI data to advance cutting-edge epilepsy research.

If you are interested in participating, go to and fill out the interest form to receive additional information. Please note: LGS Foundation does not decide who is eligible to enroll. Enrollment is decided by your physician and an EGI genetic counselor. Enrollment is limited and the opportunity is available on a first come, first serve basis.

Niemann-Pick Disease Type C

In The NPC Study, researchers are investigating a new drug candidate for Niemann-Pick Disease Type C. This drug, VTS-270, is a unique form of cyclodextrin. It has shown promise in preclinical and Phase 1 clinical studies. To learn more:


A randomized study of children with upper limb spasticity, ages 2-17. Enrollment is competitive and will be closed when 210 patients are enrolled worldwide. More information about enrollment. Direct questions to and

An observational study of children with lower limb spasticity, ages 2-17. More information about enrollment. Direct questions to:

CNF is pleased to share this information on behalf of Ipsen, a member of our Corporate Advisory Board.


Current study or fellowship opportunity relating to pediatric stroke:

Tuberous Sclerosis Complex (TSC)

List of current clinical trials/studies related to TSC: