Clinical trials: Phacomatosis
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
Neurofibromatosis 2, Vestibular Schwannoma
Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
In this research study the researchers want to learn more about the effects (both good and bad) the study drug selumetinib has on participants with neurofibromatosis type II (NF2) related tumor.
- Conditions
- Neurofibromatosis 2, Vestibular Schwannoma, Meningioma, Ependymoma
- Trial name
- SEL-TH-1601 (NCT03095248)
- Testing
- Selumetinib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Von Hippel Lindau Disease
Data Collection Protocol for Patients With Von Hippel Lindau Disease
To collect information from patients with vHL disease. Information collected will include data on the status of the disease, any surgeries or therapies patients have received for vHL disease, and quality of life.
- Trial name
- NCT05955014
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- M.D. Anderson Cancer Center
Tuberous Sclerosis
Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B)
To assess preliminary safety and efficacy of ganaxolone as adjunctive therapy for the treatment of primary seizure types in patients with genetically- or clinically-confirmed TSC-related epilepsy through the end of the 12 week…
- Trial name
- TSC (NCT04285346)
- Testing
- Ganaxolone
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Marinus Pharmaceuticals
Sturge-Weber Syndrome
Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome
The purpose of this research study is to gain a preliminary understanding of the safety of sirolimus in Sturge-Weber syndrome (SWS) and determine best outcomes to be used to assess the utility of sirolimus for the treatment of…
- Trial name
- NCT03047980
- Testing
- Sirolimus
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Anne Comi, MD
Von Hippel-Lindau Disease
Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)
Background: Von Hippel-Lindau (VHL) disease is a rare gene disease. People with VHL often have a brain tumor called hemangioblastoma. Standard treatment for these tumors is risky surgery.
- Trial name
- NCT02108002
- Testing
- Vorinostat
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Neurofibromatosis 1, Neurofibromatosis 2
The NF Registry Sponsored by the Children's Tumor Foundation
The NF Registry is a database of patient-reported symptoms, treatments, and experiences with their neurofibromatosis disease. It is a contact registry to relay clinical trial opportunities to targeted patient subgroups, and to…
- Conditions
- Neurofibromatosis 1, Neurofibromatosis 2, Schwannomatosis, NF2-related Schwannomatosis
- Trial name
- NCT01885767
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- The Children's Tumor Foundation
Ataxia-Telangiectasia
Study for Treatment of Cancer in Children With Ataxia-telangiectasia
This is a pilot/feasibility study designed to investigate the feasibility of treating children with Ataxia-Telangiectasia (A-T) and cancer with regimens nearly as intense as non-A-T patients with cancer would receive.
- Trial name
- NCT00187057
- Testing
- vinblastine, vincristine, prednisone, daunorubicin, doxorubicin, methotrexate, cyclophosphamide, L-asparaginase, etoposide, cytarabine, mercaptopurine
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- St. Jude Children's Research Hospital
Tuberous Sclerosis Complex
Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in Infants
The purpose of the study is to evaluate the efficacy, tolerability, and safety of vigabatrin versus rapamycin as a preventive treatment in infants with Tuberous Sclerosis Complex (TSC).
- Trial name
- ViRap (NCT04987463)
- Testing
- Vigabatrin, Rapamycin
- Where
- 2 sites in Poland
- Volunteers
- 60 people
- Sponsor
- Katarzyna Kotulska
Von Hippel-Lindau Syndrome
Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will examine whether he drug ranibizumab can slow or stop the growth of angiomas (blood vessel tumors) in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00089765
- Testing
- Ranibizumab
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Ataxia Telangiectasia
Evaluate the Neurological Effects of EryDex on Subjects With A-T
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes)…
- Trial name
- NEAT (NCT06193200)
- Testing
- Dexamethasone sodium phosphate
- Where
- 19 sites in United States, Denmark and 7 more
- Volunteers
- 105 people
- Sponsor
- Quince Therapeutics S.p.A.
Neurofibromatosis Type 1
A Phase 2, Open-Label Study to Evaluate the Safety and Effects of HLX-1502 in Patients With Neurofibromatosis Type 1
The trial will be an open label, single arm, phase 2 study to assess the tolerability and efficacy of HLX-1502 in participants with NF1 that are 16 years or older in age with progressive and/or symptomatic PN.
- Trial name
- INSPIRE-NF1 (NCT06541847)
- Testing
- HLX-1502
- Where
- 14 sites in United States
- Volunteers
- 25 people
- Sponsor
- Healx Limited
Neurofibromatosis Type 1 (NF1)
Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
This clinical trial is conducted by one of 4 locations; University of British Columbia (Vancouver, CA), University of Utah (Salt Lake City, UT, USA), University of Cincinnati (Cincinnati, OH, USA), and University of Hamburg…
- Trial name
- VitDBoneNF1 (NCT01968590)
- Testing
- Cholecalciferol
- Where
- 3 sites in United States, Canada
- Volunteers
- 26 people
- Sponsor
- University of Utah
Neurofibromatosis Type 1
How Neurofibromatosis Type 1 (NF1) Affects Schoolwork and Self-Esteem
The study will seek to determine whether there is a corresponding deficit in school performance for teenagers with NF1. Secondly, the study seeks to explore the issue of self-esteem in teenagers with NF1.
- Trial name
- NCT01626846
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- John Jay High School
Neurofibromatosis 1, Nerve Sheath Neoplasms
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
Background: Neurofibromatosis type 1 (NF1) is a genetic disease that can cause many symptoms. About half of people with NF1 will develop benign (noncancerous) tumors along nerves in the skin, brain, and other parts of the body.
- Trial name
- NCT06222203
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- National Cancer Institute (NCI)
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
Neurofibromatosis
Natural History Study of Patients With Neurofibromatosis Type 2
Objective With this prospective natural experiment trial on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease burden in NF2.
- Trial name
- NCT00598351
- Where
- United States
- Volunteers
- 269 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Port Wine Stain, Klippel Trenaunay Syndrome
French National Cohort of Children With Port Wine Stain
Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber…
- Conditions
- Port Wine Stain, Klippel Trenaunay Syndrome, Parkes Weber Syndrome
- Trial name
- CONAPE (NCT01364857)
- Testing
- search for polymorphisms of RASA1 gene
- Where
- 17 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Tours
Tuberous Sclerosis
JASPER Early Intervention for Tuberous Sclerosis
The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention administered remotely that may improve social and…
- Trial name
- JETS (NCT03422367)
- Testing
- JASPER
- Where
- 2 sites in United States
- Volunteers
- 64 people
- Sponsor
- University of California, Los Angeles