Clinical trials: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
CDKL5 Deficiency Disorder
Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
A clinical study to evaluate the efficacy, safety, and tolerability of adjunctive ganaxolone therapy compared to placebo for the treatment of seizures in children and young adults with genetically confirmed CDKL5 gene mutation.
- Trial name
- Marigold (NCT03572933)
- Testing
- ganaxolone
- Where
- 36 sites in United States, Australia and 6 more
- Volunteers
- 101 people
- Sponsor
- Marinus Pharmaceuticals
CDKL5 Deficiency Disorder
The Association Between Fever and CDKL5 Deficiency Disorder: a Nationwide Survey
The primary objective of this research is to study the effects of fever on seizure activity in patients with CDKL5 deficiency disorder
- Trial name
- NCT06663163
- Testing
- Observation
- Where
- China
- Volunteers
- 131 people
- Sponsor
- Xuanwu Hospital, Beijing
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
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder
Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent…
- Trial name
- CANDID (NCT05373719)
- Testing
- No intervention; observational
- Where
- 23 sites in United States, Canada and 5 more
- Volunteers
- 112 people
- Sponsor
- Loulou Foundation
CDKL5 Disorder
Ganaxolone Expanded Access Program Compassionate Use
The primary objective is to provide GNX to patients ≥ 2 years with CDD-related seizures who are refractory to, or intolerant of, standard therapy.
- Trial name
- CDD (NCT04678479)
- Testing
- Ganaxolone
- Sponsor
- Marinus Pharmaceuticals
Age-Related Macular Degeneration, Allergies
Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Conditions
- Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease
- Trial name
- NCT05635266
- Testing
- Specimen sample
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Epilepsy in Children, Dyskinesias
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy.
- Conditions
- Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder
- Trial name
- NCT06585605
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital
Rett Syndrome, MECP2 Duplication dIsorder
Natural History of Rett Syndrome & Related Disorders
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the…
- Conditions
- Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
- Trial name
- NCT02738281
- Where
- 14 sites in United States
- Volunteers
- 1,044 people
- Sponsor
- University of Alabama at Birmingham
CDKL5 Deficiency Disorder
Efficacy and Safety Evaluation of Hyperthermic Baths in the Treatment of Seizures in CDKL5 Deficiency Disorder
The primary objective of this research is to study the efficacy and safety of hyperthermic baths as adjunctive therapy for reducing the frequency of seizures in CDKL5 deficiency.
- Trial name
- NCT06447675
- Testing
- Hyperthermic Baths
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Xuanwu Hospital, Beijing
CDD
Fenfluramine in CDKL5 Deficiency Disorder (CDD)
This study will be enrolling 10 patients, ages 2-18 years old, with a confirmed genetic/clinical diagnosis of CDKL5 Deficiency Disorder (CDD) in an open label trial of fenfluramine for seizure control.
- Trial name
- NCT03861871
- Testing
- Fenfluramine Hydrochloride
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- NYU Langone Health
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
Rett Syndrome, MECP2 Duplication Disorder
Genetic and Physical Characteristics of Rett Syndrome
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2.
- Conditions
- Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder
- Trial name
- NCT00299312
- Where
- 11 sites in United States
- Volunteers
- 10 people
- Sponsor
- University of Alabama at Birmingham
CDKL5 Deficiency Disorder (CDD)
International CDKL5 Registry
Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures.
- Trial name
- NCT04486768
- Testing
- Survey Instrument
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of Pennsylvania
Epilepsy-Dyskinesia, Epilepsy
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who…
- Conditions
- Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS
- Trial name
- NCT06967727
- Where
- United States
- Volunteers
- 700 people
- Sponsor
- Boston Children's Hospital
Epilepsy, Dravet Syndrome
A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
The purpose of this study is to investigate the effect on the frequency of all seizures (convulsive and drop) in participants treated with TAK-935 compared to placebo.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- ELEKTRA (NCT03650452)
- Testing
- TAK-935
- Where
- 44 sites in United States, Australia and 6 more
- Volunteers
- 141 people
- Sponsor
- Takeda
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
The objective of this study is to assess the long-term safety, tolerability, and efficacy of adjunctive therapy of LP352 in subjects with developmental and epileptic encephalopathies who completed participation in Study LP352-201.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- NCT05626634
- Testing
- LP352, bexicaserin
- Where
- 28 sites in United States, Australia
- Volunteers
- 41 people
- Sponsor
- Longboard Pharmaceuticals
CDKL5 Deficiency Disorder
Open-label, Single-arm Trial of Ganaxolone in CDD Patients 6 Months to Less Than 2 Years Old
The goal of this clinical trial is to learn how patients with CDKL-5 deficiency disorder (CDD) aged 6 months to 2 years of age respond to treatment with ganaxolone.
- Trial name
- NCT05249556
- Testing
- Ganaxolone
- Volunteers
- 12 people
- Sponsor
- Immedica Pharma AB
Dravet Syndrome, Seizure Disorder
A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome
Study 1 and Study 3 are the prospective, merged analyses of 2 identical double-blind, placebo-controlled studies, ZX008-1501 and ZX008-1502, to assess the efficacy, safety, and pharmacokinetics of ZX008 when used as adjunctive…
- Trial name
- NCT02682927
- Testing
- ZX008 (Fenfluramine Hydrochloride)
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 262 people
- Sponsor
- Zogenix International Limited, Inc., a subsidiary of Zogenix, Inc.
Epilepsy, Dravet Syndrome (DS)
A Study of Soticlestat in Adults and Children With Rare Epilepsies
The main aim is to assess the long-term safety and tolerability of soticlestat when used along with other anti-seizure treatment. Participants will receive soticlestat twice a day.
- Conditions
- Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
- Trial name
- Endymion 1 (NCT03635073)
- Testing
- Soticlestat
- Where
- 59 sites in United States, Australia and 6 more
- Volunteers
- 156 people
- Sponsor
- Takeda
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International