Clinical trials: Developmental and Epileptic Encephalopathy
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Dravet Syndrome
A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome (Australia Only)
WAYFINDER is a Phase 1/2 study in Australia to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged 6 to <84 months. The study follows an open-label, dose-escalation design.
- Trial name
- NCT06112275
- Testing
- ETX101
- Where
- Australia
- Volunteers
- 4 people
- Sponsor
- Encoded Therapeutics
Developmental and Epileptic Encephalopathies, Epileptic Spasms
Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohydrate/protein) is an established non-medication treatment for…
- Conditions
- Developmental and Epileptic Encephalopathies, Epileptic Spasms, Genetic Epilepsy, Neonatal and Infant Epilepsy
- Trial name
- NCT06700811
- Testing
- Ketogenic diet
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Heather Olson
CSWS, Developmental and/or Epileptic Encephalopathies
Melatonin for the Treatment of DEE-SWAS
The goal of this study is to learn if melatonin, a naturally produced substance, can help to treat some of the symptoms of DEE-SWAS, a type of epilepsy that causes children to lose skills and development.
- Conditions
- CSWS, Developmental and/or Epileptic Encephalopathies, Electrical Status Epilepticus in Sleep
- Trial name
- NCT07221968
- Testing
- Melatonin
- Volunteers
- 3 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
SCN8A Developmental and Epileptic Encephalopathy Syndrome
Extension Study to Evaluate How Safe and Tolerable NBI-921352 is as an Adjunctive Therapy for Participants With SCN8A-DEE
Extension study to evaluate how safe and tolerable the drug NBI-921352 is when used as adjunctive therapy in participants with SCN8A developmental and epileptic encephalopathy syndrome (SCN8A-DEE).
- Trial name
- NCT05226780
- Testing
- NBI-921352
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- Neurocrine Biosciences
Refractory Epilepsy, SYNGAP1 Encephalopathy
Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes
This study is a pilot non-controlled clinical trial with adjunctive fenfluramine for the treatment of five different types of developmental and epileptic encephalopathies (DEEs) focused on epileptic and "non-epileptic outcomes"…
- Conditions
- Refractory Epilepsy, SYNGAP1 Encephalopathy, STXBP1 Encephalopathy With Epilepsy, Inv Dup(15) Encephalopathy
- Trial name
- FENDEEP (NCT05232630)
- Testing
- Fenfluramine
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Hospital Ruber Internacional
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Dravet Syndrome (DS)
A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
This is an open-label, single-center study to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of intrathecal RC001 in patients with Dravet syndrome aged 2 to 18 years.
- Trial name
- NCT07675746
- Testing
- RC001 injection-Dose Escalation Cohort, RC001 injection-Fixed Dose Cohort
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Second Affiliated Hospital of Guangzhou Medical University
Developmental and Epileptic Encephalopathy
Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.
- Trial name
- DEE-RETRO (NCT06380192)
- Where
- 23 sites in France
- Volunteers
- 400 people
- Sponsor
- Imagine Institute
Epilepsy; Seizure, Child Development
Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age
According to estimates by the World Health Organization in 2019, more than 50 million people around the world have epilepsy. Nearly 80% of patients with epilepsy live in developing countries.
- Conditions
- Epilepsy; Seizure, Child Development, Gene Abnormality, Early Onset Disorder
- Trial name
- NCT06278428
- Where
- 2 sites in Vietnam
- Volunteers
- 50 people
- Sponsor
- Number 2 Children's Hospital, Ho Chi Minh City
SCN2A-DEE, Epilepsy
A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
This prospective observational study is designed to assess the individualized baseline disease burden in pediatric participants aged 1 year to 16 years, with early-onset SCN2A-DEE by characterizing and quantifying changes in…
- Trial name
- NCT05407727
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Praxis Precision Medicines
SCN2A Encephalopathy, SCN8A Encephalopathy
A Clinical Trial of PRAX-562 in Subjects With Developmental and Epileptic Encephalopathies (DEE)
A Clinical Trial of PRAX-562 in Subjects With Developmental and Epileptic Encephalopathies (DEE)
- Trial name
- EMBOLD (NCT05818553)
- Testing
- PRAX-562
- Where
- 8 sites in United States, Israel and 2 more
- Volunteers
- 77 people
- Sponsor
- Praxis Precision Medicines
Electrical Status Epilepticus in Sleep
Study of Patients with Electrical Status Epilepticus in Sleep
Our aims are: 1. To understand the diagnostic practices, treatment and long term management and outcomes for patients diagnosed with ESES locally. 2.
- Trial name
- SPESES (NCT06792396)
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- East Suffolk and North Essex NHS Foundation Trust
Developmental and Epileptic Encephalopathy
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
This (DEEp OLE Study) is a multicentre, open-label study to investigate the long-term safety, efficacy, tolerability, and pharmacokinetics (PK) of LP352 in the treatment of seizures in children and adults with DEE who completed…
- Trial name
- NCT06908226
- Testing
- LP352
- Where
- 88 sites in United States, Australia and 15 more
- Volunteers
- 324 people
- Sponsor
- Longboard Pharmaceuticals
Dravet Syndrome
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
This is a multicenter, prospective, 2-year observational study in infants and children with developmental and epileptic encephalopathies (DEEs). The DEE currently being investigated is SCN1A-positive Dravet Syndrome.
- Trial name
- ENVISION (NCT04537832)
- Testing
- No Intervention
- Where
- 16 sites in United States, Australia and 2 more
- Volunteers
- 58 people
- Sponsor
- Encoded Therapeutics
SLC6A1
A Fully Remote Feasibility Trial of Phenylbutyrate for SLC6A1-Related Disorders
The purpose of this study is to evaluate the feasibility of a site-less (fully remote) clinical trial using phenylbutyrate for SLC6A1-related disorders.
- Trial name
- NCT07847918
- Testing
- Glycerol Phenylbutyrate
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Scripps Translational Science Institute
Developmental and Epileptic Encephalopathy (DEE)
A Study to Evaluate the Safety and Efficacy of CBD-OS in Participants With DEE
The efficacy, safety, and tolerability of CBD-OS have been evaluated for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and Tuberous sclerosis complex (TSC).
- Trial name
- NCT07723976
- Testing
- CBD-OS
- Volunteers
- 120 people
- Sponsor
- Jazz Pharmaceuticals
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
The objective of this study is to assess the safety, tolerability, efficacy, and pharmacokinetics of adjunctive therapy of LP352 in adults and adolescents with developmental and epileptic encephalopathies.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox Gastaut Syndrome
- Trial name
- PACIFIC (NCT05364021)
- Testing
- LP352
- Where
- 34 sites in United States, Australia
- Volunteers
- 52 people
- Sponsor
- Longboard Pharmaceuticals
Dravet Syndrome, Lennox Gastaut Syndrome
Intermediate-Size Expanded Access Protocol (EAP) for LP352
This is an intermediate-size expanded access program (EAP) study. The purpose of this EAP is to provide continued access to LP352, an investigational drug product being investigated in participants with DEEs.
- Conditions
- Dravet Syndrome, Lennox Gastaut Syndrome, Developmental and Epileptic Encephalopathies
- Trial name
- NCT06149663
- Testing
- LP352
- Where
- 22 sites in United States, Australia
- Sponsor
- Longboard Pharmaceuticals
Developmental and Epileptic Encephalopathy
A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
The goal of this clinical trial is to learn about the safety of CAP-002 gene therapy in children with Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy.
- Trial name
- NCT06983158
- Testing
- gene therapy
- Where
- 4 sites in United States
- Volunteers
- 1 people
- Sponsor
- Capsida Biotherapeutics, Inc.