Clinical trials: Hereditary Sensory and Autonomic Neuropathies
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
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)
A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)
This is a study of the safety and tolerability of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related…
- Trial name
- NCT04980872
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 60 people
- Sponsor
- Merck Sharp & Dohme LLC
Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies
The Natural History of Familial Dysautonomia
The study will collect clinical information from patients with FD and allow them to give blood to help develop biological markers of the disease to aid diagnosis and treatment.
- Conditions
- Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3
- Trial name
- NCT03920774
- Where
- 2 sites in United States, Israel
- Volunteers
- 400 people
- Sponsor
- NYU Langone Health
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Peutz-Jeghers Syndrome
Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome
A prospective non-randomized open label single arm clinical trial to examine the efficacy and safety of sirolimus in patients with Peutz-Jeghers Syndrome.
- Trial name
- NCT03781050
- Testing
- Rapamycin
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
Overactive Bladder
Urinary Neurotrophin Levels in Healthy Children
The aim of this study is to analyse urinary neurotrophin levels in healthy children. Urine samples will be collected at 3 different times of day (morning, noon, and evening) at urge sensation from all age groups of children who…
- Trial name
- NCT02389270
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Zagreb
Overactive Bladder
Urinary Biomarkers in Overactive Bladder in Children
It is a single-center, prospective, interventional, single-arm study. Aim is to investigate which variables are significantly correlated with prolonged anticholinergic treatment (>6 months) in children with overactive bladder…
- Trial name
- NCT02704013
- Testing
- Oxybutynin
- Where
- Croatia
- Volunteers
- 50 people
- Sponsor
- Children's Hospital Zagreb
Familial Dysautonomia
The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia
Familial dysautonomia (FD) is a devastating hereditary disease in which the development of selective neuronal populations is impaired because of a deficiency of the protein IKAP (Slaugenhaupt, 2002). There is no known cure.
- Trial name
- NCT02276716
- Testing
- Phosphatidylserine
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- NYU Langone Health
Blue Rubber Bleb Nevus Syndrome, Venous Malformation
Efficacy of Rapamycin (Sirolimus) in the Treatment of BRBNS, Hereditary or Sporadic Venous Malformation
A prospective, nonrandomized, open-label, single-arm clinical trial to study efficacy of rapamycin (sirolimus) in the treatment of Blue Rubber Bleb Nevus Syndrome, hereditary or sporadic venous malformation
- Trial name
- NCT03767660
- Testing
- Rapamycin
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Peking Union Medical College Hospital
Proteus Syndrome, PIK3CA-Related Overgrowth Spectrum (PROS)
Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies
ARQ 092 is being investigated for patients with overgrowth diseases and/or vascular anomalies with genetic alterations of the PI3K/AKT pathway and may be available for patients who are ineligible for an ongoing ARQ 092 clinical…
- Conditions
- Proteus Syndrome, PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorders
- Trial name
- NCT03317366
- Testing
- ARQ 092
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Vascular Malformations
Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life
Congenital vascular anomalies are uncommon and belong to the group of rare diseases.These vascular malformations can cause serious complications including obstruction of vital organs and their function, recurrent infection and…
- Trial name
- Sirolimus (NCT03987152)
- Testing
- Sirolimus
- Where
- Netherlands
- Volunteers
- 75 people
- Sponsor
- Radboud University Medical Center
Familial Dysautonomia
The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia
This is a study of kinetin, a nutritional supplement that corrects the mRNA splicing defect in patients with familial dysautonomia (FD, also known as Riley Day syndrome or hereditary sensory and autonomic neuropathy type III).
- Trial name
- NCT02274051
- Testing
- Kinetin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Hypoxic-Ischemic Encephalopathy
Study of Cerebrolysin for Treatment of Infants With History of Neonatal Hypoxic Ischemic Encephalopathy
The purpose of this study is to determine whether nerve growth factor (cerebrolysin®) therapy will improve the psychomotor outcome in infants with moderate and severe hypoxic ischemic encephalopathy after hospital discharge.
- Trial name
- CerebroHIE (NCT01059461)
- Testing
- Cerebrolysin®
- Where
- 2 sites in Egypt
- Volunteers
- 40 people
- Sponsor
- Sahar M.A. Hassanein, MD
Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)
Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
This study is a two periods multi-center Phase II trial, with a 6 months double-blind, placebo-controlled period followed by open label period, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult…
- Trial name
- SESAM (NCT05577754)
- Testing
- Alpelisib (BYL719), Optional lumbar puncture + blood sample
- Where
- 13 sites in France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Dysautonomia, Familial, Baroreflex Failure Syndrome
Carbidopa for the Treatment of Excessive Blood Pressure Variability
The overall study objectives are to determine whether carbidopa (Lodosyn®) is safe and well tolerated and to assess whether it can inhibit catecholamine-induced paroxysmal hypertension and normalize or reduce the exaggerated…
- Trial name
- CarbiFD (NCT02553265)
- Testing
- Carbidopa Low-Dose, Carbidopa High-Dose
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- NYU Langone Health
Vascular Anomalies, Vascular Anomaly
24VA022; VATCH Alpelisib for TIE2/PIK3CA Pathway VAs
The study will enroll participants 2 months of age up to 30 years of age. The purpose of this study is to assess the effectiveness and safety of Alpelisib (the "Study Drug") in patients with PIK3CA/TIE-2/TEK pathway driven…
- Conditions
- Vascular Anomalies, Vascular Anomaly, TIE2/PIK3CA Pathway Driven Vascular Anomalies
- Trial name
- VATCH (NCT07543822)
- Testing
- alpelisib (BYL719)
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- Children's Hospital of Philadelphia
Advanced Stage Solid Tumors
ATRi Transition Rollover Study
The main purpose of the study was to monitor the safety of participant receiving long-term treatment of Berzosertib as monotherapy.
- Trial name
- NCT03309150
- Testing
- Berzosertib
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Burns
Determination of Nerve Growth Factor (NGF) Expression in Pediatric Patients With Severe Burns: a Pilot Study
The goal of this observational study is to determine the blood values of NGF in severely burned patients, to describe any changes over time and finally to correlate the expression of NGF to the severity of the burn.
- Trial name
- NCT05751174
- Testing
- pediatric patients affected by severe burns
- Where
- Italy
- Volunteers
- 12 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Prostatic Neoplasms
Prevalence of HRR-related Genes Mutations and Prognosis in Metastatic Castration Resistant Prostate Cancer (mCRPC) Patients in Real World Setting
The purpose of this study is to investigate the prevalence of tissue homologous recombination repair (HRR)-related gene mutations (positive/negative/Variant of uncertain significance (VUS)), clinical outcome such as…
- Trial name
- ZENSHIN (NCT04425200)
- Where
- 26 sites in Japan
- Volunteers
- 205 people
- Sponsor
- AstraZeneca