Clinical trials: Sensory Neuropathy
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, Type IA
Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
All randomised patients with Charcot-Marie-Tooth Type 1A (CMT1A) who completed the primary study CLN-PXT3003-02, i.e. treatment with PXT3003 or placebo, are eligible to continue in the extension study CLN-PXT3003-03.
- Trial name
- PLEO-CMT-FU (NCT03023540)
- Testing
- PXT3003
- Where
- 23 sites in United States, Belgium and 5 more
- Volunteers
- 187 people
- Sponsor
- Pharnext S.C.A.
CMT 1A
Driving Ability in Patients With CMT 1A
Charcot Marie Tooth 1A (CMT 1A) is a common inherited disorder of the nerves in the body. The disease can result in difficulties with strength and balance as well as in foot deformities such as high arches, hammer toes, and tight…
- Trial name
- NCT02357355
- Testing
- UIHC Driving Simulator
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Jerath U Nivedita
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome
Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
This is an open label, Phase 1/2 study 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 Overgrowth…
- Trial name
- MOSAIC (NCT03094832)
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 50 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Charcot-Marie-Tooth Disease, Healthy
Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make…
- Trial name
- NCT06203093
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
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
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathies
Ascorbic Acid Treatment in CMT1A Trial (AATIC)
Charcot-Marie-Tooth type IA (CMT1A) is the most prevalent hereditary peripheral neuropathy. Demyelination of peripheral nerves is the hallmark of CMT1A.
- Trial name
- AATIC (NCT00271635)
- Testing
- ascorbic acid
- Where
- Netherlands
- Volunteers
- 13 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Giant Axonal Neuropathy
Giant Axonal Neuropathy Natural History Study
Giant Axonal Neuropathy (GAN) is a devastating and rare childhood disease. Children with GAN develop increasing muscle weakness, impaired sensation, and at times mental retardation.
- Trial name
- NCT01503125
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Columbia University
Hereditary Spastic Paraparesis
Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- TreatSPG11 (NCT04768166)
- Testing
- Miglustat 100 MG
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- IRCCS Fondazione Stella Maris
Hereditary Spastic Paraplegia, Spastic Paraplegia Type 11
Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- 3AL-SPG11 (NCT04912609)
- Where
- Italy
- Volunteers
- 13 people
- Sponsor
- IRCCS Fondazione Stella Maris
Idiopathic Toe Walking, Cerebral Palsy
The Effect of Targeting the Plantaris Muscle-tendon in Surgical Correction of Ankle Equinus in Children
Tight ankle muscles can produce ankle equinus (limited ability to pull the foot upward) and occur often in children, significantly impacting their ability to walk.
- Conditions
- Idiopathic Toe Walking, Cerebral Palsy, Hereditary Spastic Paraparesis, Traumatic Brain Injury
- Trial name
- Plantaris Sx (NCT07090057)
- Testing
- Tendoachilles (TA) lengthening or gastrocnemius (GN) recession, then Plantaris tenotomy, Plantaris tenotomy, then Tendoachilles (TA) lengthening or gastrocnemius (GN) recession
- Where
- Canada
- Volunteers
- 42 people
- Sponsor
- University of Alberta
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
Hereditary Spastic Paraplegia, Primary Lateral Sclerosis
Spastic Paraplegia - Centers of Excellence Research Network
The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and…
- Conditions
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A
- Trial name
- SP-CERN (NCT06553976)
- Where
- 11 sites in United States
- Volunteers
- 100 people
- Sponsor
- Boston Children's Hospital
Peripheral Sensory Neuropathy
Clinical Study on Acetyl-L-Carnitine
Chemotherapy-induced peripheral neuropathy (CIPN) is a common clinical dose-limiting adverse drug reaction, and the primary manifestations are different degree of neuromotor, sensorineural and autonomic nervous dysfunction.
- Trial name
- NCT01526564
- Testing
- Acetylcarnitine
- Volunteers
- 239 people
- Sponsor
- Lee's Pharmaceutical Limited
Familial Dysautonomia
Dexmedetomidine Sublingual Film for the Ambulatory Treatment of Hyperadrenergic Autonomic Crisis in Patients With Familial Dysautonomia
The purpose of this placebo controlled interventional study is to collect preliminary data on administering dexmedetomidine in patients with Familial Dysautonomia (FD) during a rapid cessation of autonomic crisis.
- Trial name
- NCT06148311
- Testing
- Dexmedetomidine
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
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
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Giant Axonal Neuropathy, Gene Transfer
Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy
Title: Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Background: The Gigaxonin gene lets the body make a protein chemical called Gigaxonin. Nerves need Gigaxonin to work properly.
- Trial name
- NCT02362438
- Testing
- scAAv9/JeT-GAN
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France