Clinical trials: Phacomatosis
Neurofibromatosis Type 1
A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
The specific aim of this study is to determine whether Lovastatin ™ significantly improves visual spatial learning and/or sustained attention in children with NF1.
- Trial name
- STARS (NCT00853580)
- Testing
- Lovastatin ™
- Where
- 12 sites in United States, Australia
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Neurofibromatosis 1, Social Skills
Pilot Randomized Control Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1
This is a pilot randomized control trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
- Trial name
- NCT04860362
- Testing
- PEERS
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Milwaukee
Neurofibromatosis Type 1
Neurofibromatosis Type 1 Patient Registry
The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social…
- Trial name
- NPRI (NCT01410006)
- Where
- United States
- Volunteers
- 2,391 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Neurofibromatosis 1
Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1
Children with neurofibromatosis type 1 (NF1) commonly suffer from the effects of cognitive, behavioral, and motor impairments. At present, there is no specific treatment for this NF1 complication.
- Trial name
- DoDNAC (NCT04481048)
- Testing
- N-Acetyl cysteine
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Neurofibromatosis 1, Social Skills
Open Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1
This is an open trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
- Trial name
- NCT04856514
- Testing
- PEERS
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Milwaukee
Neurofibromatosis 1, Plexiform Neurofibromas
Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Background: People with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives.
- Trial name
- NCT02544022
- Where
- 6 sites in United States
- Volunteers
- 476 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis 1
Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body.
- Trial name
- NCT04879160
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Age-Related Macular Degeneration, Diabetic Retinopathy
National Eye Institute Biorepository for Retinal Diseases
Background: To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time.
- Conditions
- Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome, Retinal Disease
- Trial name
- NCT01496625
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Neurofibromatosis Type 1
Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
The main objective of the study is to investigate the determinants of the quality of life in children and adults with Neurofibromatosis type 1 (NF1) and more particularly the specific impact of neuropsychological deficits.
- Trial name
- NF1-QDV (NCT01851135)
- Testing
- Neuropsychological examination and quality of life measures
- Where
- 2 sites in France
- Volunteers
- 286 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Neurofibromatosis
Acceptance and Commitment Therapy for Adolescents and Young Adults With Neurofibromatosis and Chronic Pain
Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that can cause frequent and significant pain. This pain can have a severe impact on a person s quality of life.
- Trial name
- NCT01633008
- Testing
- ACT Workshop
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Sturge-Weber Syndrome
Longitudinal Neuroimaging in Sturge-Weber Syndrome
In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create…
- Trial name
- NCT04517565
- Testing
- Brain magnetic resonance imaging, Neuro-psychology testing
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Wayne State University
Sturge-Weber Syndrome
Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits.
- Trial name
- NCT04717427
- Where
- 8 sites in United States
- Volunteers
- 161 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Neurofibromatosis Type 1
Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest
To examine the test-retest reliability (how stable the results are when the same participants, whose symptoms have remained stable, are assessed on 2 different occasions, 14 days apart) of the 10 meter walk test, the timed up and…
- Trial name
- NCT05186870
- Testing
- Outcome measures
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Guy's and St Thomas' NHS Foundation Trust
Neurofibromatoses
Resiliency Training for Adolescent Neurofibromatosis Patients Via Videoconferencing With Skype
The aim of this research is to adapt the NF-specific adult version of the Skype 3RP for use with adolescents, and to test its feasibility, acceptability, and preliminary effect in improving quality of life, and in decreasing…
- Trial name
- NCT02387177
- Testing
- Stress Management Group 1, Stress Management Group 2
- Where
- United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Neurofibromatosis Type 1, Reading Disabilities
Neurobiology and Treatment of Reading Disability in NF-1
The goal of this trial is to determine if children with neurofibromatosis type 1 who have reading disabilities respond the same way-both behaviorally and neurobiologically-to specialized treatment programs as children with…
- Trial name
- NCT00624234
- Testing
- Tutoring Program I, Tutoring Program II
- Where
- United States
- Volunteers
- 184 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Tuberous Sclerosis, Autism Disorder
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive…
- Conditions
- Tuberous Sclerosis, Autism Disorder, Intellectual Disability
- Trial name
- NCT02461459
- Where
- 6 sites in United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Sturge-Weber Syndrome
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
- Trial name
- NCT01425944
- Where
- 7 sites in United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Ataxia Telangiectasia, Dysmetria
Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive…
- Trial name
- NCT05471310
- Where
- Russia
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology