Clinical trials: Sensory Neuropathy
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon
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
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
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
Common Peroneal Neuropathy
Sensory Potentials and Ultrasonography in Common Peroneal Mononeuropathy
Common peroneal mononeuropathy at the fibular neck (CPN) is one of the most frequent mononeuropathies of the lower extremities. The common peroneal nerve sub serves sensation to the dorsum of the foot and toes.
- Trial name
- NCT03753178
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- rania sanad
Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
- Trial name
- INC-6602 (NCT01193088)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 1,050 people, healthy volunteers welcome
- Sponsor
- University of Iowa
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
Motor Function, Gait
Spinal Cord Stimulation Therapy for Hereditary Spastic Paraplegias Patients
It's a single-center, prospective, open label clinical study with a 12 months follow-up period, to investigate the therapeutic effect and safety of spinal cord stimulation (SCS) on motor function and gait in patients with pure…
- Trial name
- NCT05196178
- Testing
- Spinal cord stimulation
- Where
- China
- Volunteers
- 12 people
- Sponsor
- Xuanwu Hospital, Beijing
Stroke, Peripheral Sensory Neuropathy
Robot-aided Proprioceptive Rehabilitation Training
This study investigates the effect of a robot-aided 2-day proprioceptive training of the wrist on the proprioceptive and motor function of the wrist/hand complex in patients with proprioceptive impairment.
- Trial name
- NCT02565407
- Testing
- Proprioceptive training, Usual care
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Motor Neuron Diseases, Spinocerebellar Ataxias
Rare Disease Registry Database for Movement Disorders in Southern Anhui Province
According to the World Health Organization (WHO) definition, a rare disease is a disease affecting fewer than 6.5 people per 10,000; in China, it generally refers to diseases with a prevalence of less than 1/10,000 (i.e., with a…
- Conditions
- Motor Neuron Diseases, Spinocerebellar Ataxias, Hereditary Muscular Dystrophy, Hereditary Spastic Paraplegia
- Trial name
- W-MoSCA (NCT07838883)
- Where
- China
- Volunteers
- 180 people
- Sponsor
- First Affiliated Hospital of Wannan Medical College
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)
Charcot-Marie-Tooth Disease Type 1A
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis.
- Trial name
- CMT-MODS (NCT07049588)
- Testing
- Quantitative neuromuscular MRI, Skin biopsy, Clinical scores
- Where
- France
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
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
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
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
Hereditary Spastic Paraplegia
12-Week Strength and Functional Exercise Program for Hereditary Spastic Paraplegia Trial (HSPMOVE)
This study aims to evaluate whether a 12-week program of strength and functional exercises can improve movement and daily function in people with Hereditary Spastic Paraplegia (HSP).
- Trial name
- HSPMOVE (NCT07561359)
- Testing
- Individualized Functional and Strength Exercises
- Where
- Brazil
- Volunteers
- 20 people
- Sponsor
- Hospital de Clinicas de Porto Alegre