Clinical trials: Cortical Development Malformation
Facial Angiofibroma
Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis
The aim of the study is to determine the effect and safety of topical rapamycin or calcitriol and their combination for the treatment of TSC-associated facial angiofibroma.
- Trial name
- NCT03140449
- Testing
- Rapamycin, Calcitriol, Rapamycin-calcitriol combination
- Volunteers
- 52 people
- Sponsor
- National Taiwan University Hospital
Adult Caregivers of Individuals With TSC, Tuberous Sclerosis Complex (TSC)
TANDem-2: Closing the Gap to Interventions for TAND
The goal of this pilot study is to determine the feasibility, acceptability and impact of a brief behavioral intervention - the "Well-Beans for Caregivers" program, for adult caregivers of individuals with tuberous sclerosis…
- Trial name
- TANDem-2 (NCT06879665)
- Testing
- Well-Beans for Caregivers Program
- Where
- 2 sites in United States, Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Vrije Universiteit Brussel
Tuberous Sclerosis, Epilepsy
Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases
Tuberous sclerosis complex (TSC), affecting 1 in 6.000 live births, is characterized by the development of multisystem tumors. Seizures are frequent up to 80% of individuals.
- Trial name
- EPISTOPIDEAL (NCT05199402)
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Imagine Institute
Tuberous Sclerosis, Subependymal Giant Cell Astrocytoma
Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex
The purpose of the study is to evaluate the safety and potential side effects of everolimus (an experimental drug) on a person with Tuberous Sclerosis Complex who also has been diagnosed with a brain tumor (astrocytoma) The…
- Trial name
- NCT00411619
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Neuromotor Impairments, Cerebral Palsy
The FBRI VTC Neuromotor Research Clinic
The FBRI VTC Neuromotor Research Clinic was established and opened in May of 2013 to provide intensive therapeutic services to individuals with motor impairment secondary to neuromotor disorders. It is direct by Dr.
- Conditions
- Neuromotor Impairments, Cerebral Palsy, Microcephaly, Autism
- Trial name
- NCT03325946
- Testing
- ACQUIRE Therapy
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Virginia Polytechnic Institute and State University
Tuberous Sclerosis, Lymphangioleiomyomatosis
Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma
Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease that is characterized by the development of benign neoplasms in brain, kidney, lung, skin and heart.
- Conditions
- Tuberous Sclerosis, Lymphangioleiomyomatosis, Angiomyolipoma
- Trial name
- NCT02325505
- Where
- 3 sites in Brazil
- Volunteers
- 200 people
- Sponsor
- InCor Heart Institute
Facial Angiofibroma
Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream
The objective of this study is to evaluate the safety and efficacy of a 0.1% formulation of rapamune cream in children with Tuberous Sclerosis Complex (TSC), ages 3 years and older, who have facial angiofibromas that would…
- Trial name
- NCT01853423
- Testing
- Rapamune
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Le Bonheur Children's Hospital
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs.
This is a Phase 1, open-label, 3-period study to determine radiprodil's potential to act as a perpetrator of cytochrome P-450 (CYP) metabolic pathways and transporter pathways.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06975605
- Testing
- Radiprodil + co-administered drugs
- Where
- Australia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
Tuberous Sclerosis Complex, Epilepsy
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
This phase I/II clinical trial is an open-label clinical trial design to verify safety and dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5).
- Trial name
- STOP2 (NCT04595513)
- Testing
- TAVT-18 (sirolimus)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Refractory Epilepsy, Focal Epilepsy
Study of Predictive Biomarkers for Rational Management of Drug-resistant Epilepsy Associated With Focal Cortical Dysplasia
Focal Cortical Dysplasias (FCDs) are neurodevelopmental disorders that represent a major cause of early onset drug-resistant epilepsies with cognitive and behavioral impairments, carrying a lifelong perspective of disability and…
- Conditions
- Refractory Epilepsy, Focal Epilepsy, Focal Cortical Dysplasia
- Trial name
- SPREAD (NCT03321240)
- Testing
- visual and quantitative SEEG signal analysis, Resective epilepsy surgery procedure
- Where
- 11 sites in France
- Volunteers
- 240 people
- Sponsor
- University Hospital, Strasbourg, France
Tuberous Sclerosis Complex
Acceptance and Commitment Therapy in Tuberous Sclerosis Complex
The study will assess the acceptability and feasibility of a randomised controlled trial of 6-12 sessions of remotely-delivered Acceptance and Commitment Therapy (ACT) versus waitlist control.
- Trial name
- ACT in TSC (NCT05867576)
- Testing
- Acceptance and Commitment Therapy (ACT)
- Where
- United Kingdom
- Volunteers
- 15 people
- Sponsor
- University Hospitals Bristol and Weston NHS Foundation Trust
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Tuberous Sclerosis Complex
Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC
To determine whether EEGs during infancy is a reliable biomarker to identify TSC patients that will develop infantile spasms/epilepsy in the near future and thus are appropriate candidates for an antiepileptogenic drug trial.
- Trial name
- NCT01767779
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- University of Alabama at Birmingham
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
ZIKA VIRUS INFECTION, Child Development
Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
The recent increase in the number of cases of congenital microcephaly observed in Brazil is a reason of great concern. This increase occurred a few months after Zika virus (ZIKV) was introduced in the country, which was…
- Conditions
- ZIKA VIRUS INFECTION, Child Development, Microcephaly
- Trial name
- ZIKVIRUSIFF (NCT03255369)
- Testing
- Child exposed Zika virus proved
- Where
- Brazil
- Volunteers
- 500 people
- Sponsor
- Oswaldo Cruz Foundation
Angiofibromas, Tuberous Sclerosis
Topical Rapamycin to Erase Angiofibromas in TSC
The study is a multi-center prospective, randomized, double-blind, placebo-controlled evaluation of the safety and efficacy of a topically applied formulation of rapamycin to cutaneous angiofibromas in subjects with Tuberous…
- Trial name
- Treatment (NCT01526356)
- Testing
- Rapamycin
- Where
- 10 sites in United States, Australia
- Volunteers
- 179 people
- Sponsor
- The University of Texas Health Science Center, Houston
Adrenal Tumor, Adrenal Mass
Prevention of Conversion in Posterior Retroperitoneal Adrenalectomy by Measuring Preoperative Anatomical Conditions
With our retrospective study the investigators show the limitations of the posterior retroperitoneal adrenalectomy by analyzing anatomical parameters.
- Conditions
- Adrenal Tumor, Adrenal Mass, Pheochromocytoma, Conn Adenoma
- Trial name
- NCT04071561
- Testing
- Posterior retroperitoneal adrenalectomy (PRA), Lateral transperitoneal adrenalectomy (LTA)
- Where
- Switzerland
- Volunteers
- 14 people
- Sponsor
- University of Basel
Tuberous Sclerosis, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston