Clinical trials: Peripheral Neuropathy Hereditary
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
Amyloidosis, Amyloid
Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis
This study measures circulating, misfolded ATTR oligomers in asymptomatic ATTRm amyloidosis genetic carriers longitudinally over five years.
- Conditions
- Amyloidosis, Amyloid, Amyloid Neuropathies, Familial, Amyloid Cardiomyopathy
- Trial name
- MED-hATTR (NCT03431896)
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- The Cleveland Clinic
Malignant Peripheral Nerve Sheath Tumors, Neurofibromatosis 1
SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors
To determine the clinical benefit rate of selumetinib in combination with sirolimus in patients with unresectable or metastatic neurofibromatosis type 1 (NF1) associated or sporadic MPNST.
- Trial name
- NCT03433183
- Testing
- Selumetinib, Sirolimus
- Where
- 5 sites in United States
- Volunteers
- 21 people
- Sponsor
- Sarcoma Alliance for Research through Collaboration
Epigastric Pain, Retrosternal Pain
Transient Receptor Potential Vanilloid One (TRPV1) Receptor Expression in Children With Retrosternal Pain
We would like to evaluate the changes in nerve innervation and TRPV1 receptor expression along with microscopic changes associated with heart burn and abdominal pain
- Conditions
- Epigastric Pain, Retrosternal Pain, Esophagitis, Gastrointestinal Symptoms
- Trial name
- TRPV1 (NCT00677378)
- Where
- United States
- Volunteers
- 77 people
- Sponsor
- Medical College of Wisconsin
Neurofibromatosis 1 and 2 (NF1 and NF2)
A Single Center Pilot Study to Assess the Intra-observer Reliability of Measuring Muscle Strength Using a Hand Held Dynamometer in Children and Adults With Neurofibromatosis Type 1 (NF1) and Type 2 (NF2)
Patients with clinically confirmed neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) or a known neurofibromatosis (NF) mutation aged 5 years and above will be eligible to participate and will be recruited from the…
- Trial name
- NCT03672838
- Testing
- hand-held dynamometer
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- NYU Langone Health
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Neurofibromatosis Type 1
Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With NF1-related Symptomatic, Inoperable PN
This study is designed to define a dosing regimen and assess the pharmacokinetics(PK) and safety of the granule formulation; the study will also include descriptive analyses of exploratory efficacy endpoints.
- Trial name
- SPRINKLE (NCT05309668)
- Testing
- Selumetinib granule formulation, Selumetinib capsule formulation
- Where
- 16 sites in United States, Germany and 5 more
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
Constipation, Childhood Acute Lymphoblastic Leukemia
Comparison of Gastrointestinal Motility in Healthy Children and Children With Constipation
To gain a better understanding of the underlying dysmotility in constipation in children, we will use a novel minimal invasive method called 3D Transit.
- Conditions
- Constipation, Childhood Acute Lymphoblastic Leukemia, Neurofibromatosis 1, Chronic Constipation With Overflow
- Trial name
- NCT03981510
- Testing
- 3D-Transit
- Where
- Denmark
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Giant Axonal Neuropathy (GAN)
Intraneural Administration of scAAV9/JeT-GAN Into the Vagus Nerve for Patients With Giant Axonal Neuropathy (GAN)
Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous…
- Trial name
- NCT07543991
- Testing
- scAAV9/JeT-GAN
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
Charcot-Marie-Tooth Disease
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
The study will consist of 2 periods: Double-blind Treatment and Open-Label Extension(OLE) Period. -Double-blind Treatment Period - This will be randomized, double-blind, placebo-controlled part of the study which will be…
- Trial name
- PREMIER (NCT04762758)
- Testing
- (RS)-baclofen, naltrexone hydrochloride and D-sorbitol
- Where
- 50 sites in United States, Belgium and 7 more
- Volunteers
- 350 people
- Sponsor
- Pharnext S.C.A.
Neurofibromatosis, NF1
Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas
This is a pilot study to determine if adults and children with neurofibromatosis type 1 who have plexiform tumors given Sutent® respond to this drug therapy.
- Conditions
- Neurofibromatosis, NF1, Plexiform Neurofibromas
- Trial name
- NCT01402817
- Testing
- Sutent®/Sunitinib
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Indiana University
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
CMT, CMT (Charcot Marie Tooth Disease)
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22.
- Conditions
- CMT, CMT (Charcot Marie Tooth Disease), CMT - Charcot-Marie-Tooth Disease, CMT1A
- Trial name
- CMT-MODs (NCT07476365)
- Where
- Germany
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
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
Neurofibromatosis Type 1, Recurrent Childhood Brain Stem Glioma
Pomalidomide in Treating Younger Patients With Recurrent, Progressive, or Refractory Central Nervous System Tumors
This phase I trial studies the side effects and best dose of pomalidomide in treating younger patients with tumors of the brain or spine (central nervous system) that have come back or are continuing to grow.
- Conditions
- Neurofibromatosis Type 1, Recurrent Childhood Brain Stem Glioma, Recurrent Childhood Visual Pathway Glioma, Recurrent Primary Central Nervous System Neoplasm
- Trial name
- NCT02415153
- Testing
- Laboratory Biomarker Analysis, Pharmacological Study, Pomalidomide
- Where
- 12 sites in United States
- Volunteers
- 29 people
- Sponsor
- National Cancer Institute (NCI)
POEMS Syndrome, Amyloidosis
A Clinical Study of CD19/BCMA CAR-T Cells in the Treatment of Refractory POEMS Syndrome, Amyloidosis, Autoimmune Hemolytic Anemia, and Vasculitis
A Clinical Study on the Safety and Effectiveness of CD19/BCMA Chimeric Antigen Receptor T Cells in the Treatment of Refractory POEMS Syndrome, Amyloidosis, Autoimmune Hemolytic Anemia, and Vasculitis
- Conditions
- POEMS Syndrome, Amyloidosis, Autoimmune Hemolytic Anemia, Vasculitis
- Trial name
- NCT05263817
- Testing
- CD19/BCMA CAR T-cells
- Where
- China
- Volunteers
- 75 people
- Sponsor
- Zhejiang University
Charcot-Marie-Tooth Disease
Survey of Current Management of Orthopaedic Complications in CMT Patients
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required.
- Trial name
- NCT02001038
- Testing
- Survey
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- University College London Hospitals
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
Neurofibromatosis Type 1, Legius Syndrome
Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others.
- Trial name
- NCT00111384
- Where
- United States
- Volunteers
- 313 people
- Sponsor
- National Cancer Institute (NCI)
PIK3CA-Related Overgrowth Spectrum (PROS)
Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib
The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the…
- Trial name
- EPIK-P1 (NCT04285723)
- Testing
- alpelisib
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals