Clinical trials: CDKL5 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, CDKL5 Deficiency Disorder
International CDKL5 Clinical Research Network
Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments…
- Conditions
- CDKL5, CDKL5 Deficiency Disorder, CDD
- Trial name
- ICCRN (NCT05558371)
- Testing
- No intervention.
- Where
- 9 sites in United States, Australia
- Volunteers
- 1,000 people
- Sponsor
- University of Colorado, Denver
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus 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
CDKL5
Targeting the Gut to Improve Seizure Control in CDKL5 Deficiency Disorder (CDD)
Standard anti-seizure medications have limited efficacy in seizure control in cyclin-dependent kinase-like 5 deficiency disorder (CDD).
- Trial name
- NUTRIENT (NCT06448663)
- Testing
- alpha-lactalbumin, fructooligosaccharides, inulin, alpha-lactalbumin, sodium butyrate, fructooligosaccharides, inulin
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- University of Milan
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
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
15q Duplication Syndrome, CDKL5 Deficiency Disease
A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY)
The purpose of this study is to investigate the effect of soticlestat on the frequency of motor seizures for participants with Dup15q or CDD during the Maintenance Period.
- Trial name
- NCT03694275
- Testing
- Soticlestat
- Where
- 8 sites in United States
- Volunteers
- 20 people
- Sponsor
- Takeda
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
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
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
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
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, Generalized Tonic Clonic Seizure
A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder.
This is a Phase 3 Study to examine the efficacy and safety of ZX008 in children and adults with cyclin-dependent kinase like-5 (CDKL5) deficiency disorder (CDD).
- Conditions
- CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure, Epileptic Spasm, Refractory Seizures
- Trial name
- GEMZ (NCT05064878)
- Testing
- Fenfluramine
- Where
- 46 sites in United States, Austria and 12 more
- Volunteers
- 87 people
- Sponsor
- Zogenix, Inc.
CDKL5 Deficiency Disorder
Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A PROBE Clinical Trial
The primary objective of this research is to study the efficacy and safety of daily, home-based hyperthermic baths for reducing epileptic seizures in CDKL5 Deficiency Disorder.
- Trial name
- NCT07602205
- Testing
- Home-based hyperthermic Baths
- Volunteers
- 34 people
- Sponsor
- Xuanwu Hospital, Beijing
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
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
Epilepsy
Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
This is a phase 2, crossover study of Ataluren for the treatment of nonsense mutation Dravet syndrome or cyclin-dependent kinase-like 5 (CDKL5) deficiency, resulting in drug-resistant epilepsy.
- Trial name
- NCT02758626
- Testing
- ataluren
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
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
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