Clinical trials: Inherited Neuropathies
Cardiac Amyloidosis, Cardiac Disease
High Resolution Three-dimensional Maps of the Right Chambers in Patient Diagnosed With Cardiac Amyloidosis
Amyloid heart disease is an accumulation of fibrillar proteins in the extracellular sector of the heart. Identified on echocardiography as Ventricular hypertrophy.
- Trial name
- CARTO-AMYLO (NCT04956965)
- Testing
- Cardiac electro-mapping
- Where
- Martinique
- Volunteers
- 24 people
- Sponsor
- University Hospital Center of Martinique
Multiple Sclerosis, Exercise Intervention
Regular Exercise Improves Physical Capacity and Promotes Neurotrophins in Patients With Multiple Sclerosis
ABSTRACT Objective: The investigators aimed to determine the effect of regular exercise on aerobic capacity, strength values, and plasma levels of nerve growth factor (NGF) and Neurotrophin-3 (NT-3) in patients with multiple…
- Conditions
- Multiple Sclerosis, Exercise Intervention, Neuro-Degenerative Disease
- Trial name
- NCT04944251
- Testing
- Regular Exercise
- Where
- Turkey (Türkiye)
- Volunteers
- 43 people
- Sponsor
- Ege University
Charcot-Marie-Tooth Disease, Type 1A
A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
The purpose of this study is to characterize the safety, tolerability, and pharmacokinetics of EDK060 as compared to placebo in adult patients with CMT1A.
- Trial name
- NCT07140614
- Testing
- EDK060, dose A, EDK060, dose B, EDK060, dose C
- Where
- 4 sites in Canada
- Volunteers
- 28 people
- Sponsor
- Novartis Pharmaceuticals
Cardiac Amyloidosis
Mitochondrial Function in Transthyretin Amyloidosis
Hereditary (familial) amyloidosis arising from the misfolding of a mutated or variant transthyretin, is the most frequent form of amyloid cardiomyopathy in the Caribbean basin.
- Trial name
- MIT-Amylose (NCT03328338)
- Where
- Martinique
- Volunteers
- 12 people
- Sponsor
- University Hospital Center of Martinique
Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
The objective of this survey is to establish the clinical course of vision loss and recovery in patients with a genetically confirmed diagnosis of Leber Hereditary Optic Neuropathy (LHON).
- Trial name
- NCT01892943
- Where
- 8 sites in Belgium, Denmark and 3 more
- Volunteers
- 306 people
- Sponsor
- Santhera Pharmaceuticals
Skin Cancer, Skin Diseases
Multi-modal Quantitative Imaging of the Skin
This clinical trial is about evaluating the suitability of multi-modal imaging technology, which covers virtually the entire body, to evaluate the possibility of screening and early detection of disease.
- Conditions
- Skin Cancer, Skin Diseases, Atopic Dermatitis, Psoriasis
- Trial name
- DermaFlow (NCT06989216)
- Where
- 3 sites in Sweden
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- HJN Sverige AB/Neko Health
Carpal Tunnel Syndrome, Charcot-Marie-Tooth Disease
Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
The purpose of this study is to learn about focal compressive median neuropathy at the wrist (Carpal Tunnel Syndrome) and outcomes of therapies (e.g.
- Conditions
- Carpal Tunnel Syndrome, Charcot-Marie-Tooth Disease, Inherited Peripheral Neuropathy
- Trial name
- NCT02788734
- Testing
- Web-based survey
- Where
- United States
- Volunteers
- 333 people
- Sponsor
- University of South Florida
Advanced Solid Malignancy, Safety and Tolerability
Safety, Tolerability & Potential Anti-cancer Activity of Increasing Doses of AZD5363 in Different Treatment Schedules
This study is designed to investigate the safety and tolerability of a new drug, AZD5363, in patients with advanced cancer - and to identify a dose and schedule that can be used in the future.
- Conditions
- Advanced Solid Malignancy, Safety and Tolerability, Pharmacokinetics, Pharmacodynamics
- Trial name
- NCT01226316
- Testing
- AZD5363
- Where
- 34 sites in United States, Canada and 8 more
- Volunteers
- 285 people
- Sponsor
- AstraZeneca
Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy
SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
The single-center, open-label Phase II study has the objective of assess the effect of MD1003 on motor and sensory conduction in patients suffering from demyelinating polyneuropathies in 15 subjects.
- Conditions
- Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease Type 1A
- Trial name
- NCT02967679
- Testing
- MD1003
- Where
- France
- Volunteers
- 15 people
- Sponsor
- MedDay Pharmaceuticals SA
Hip Fracture of Intertrochanteric Type, Thromboembolic Event
Diffrence in Thromboprofilaksis in Elderly Ostoepenic Hip Fractures According to Mobility Status by Genetic Analysis
Hip fracture is a common and severe disease in elderly patients. The question of the study is whether elderly patients with severe osteopenia have significantly lower levels of the collagen-binding protein Hsp47 than relatively…
- Conditions
- Hip Fracture of Intertrochanteric Type, Thromboembolic Event, Osteopenia, Thrombosis Embolism
- Trial name
- HSP 47 (NCT06959017)
- Testing
- Gene Expression Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Saglik Bilimleri Universitesi
Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
The purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies.
- Trial name
- DSI and HMSN (NCT02194010)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 563 people
- Sponsor
- University of Iowa
Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy (BioTRAP)
International, multicenter, observational, longitudinal study to identify biomarker/s for the development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic…
- Conditions
- Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin Amyloid Cardiopathy
- Trial name
- BioTRAP (NCT02713880)
- Where
- 2 sites in Germany, India
- Sponsor
- CENTOGENE GmbH Rostock
Amyloid Cardiomyopathy, Transthyretin-Related
Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10
This is a single center, prospective, randomized, placebo-controlled study of AG10 in healthy adult subjects
- Trial name
- NCT03294707
- Testing
- AG10 oral tablet
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Cardiac Amyloidosis
Morpho-functional Cardiac Modifications in Treated Mutated Transthyretin Cardiac Amyloidosis
Cardiac Amyloidosis (CA) is characterized by a long subclinical phase characterized by deposition of amyloid fibrils in atria, valves and walls of ventricles.
- Trial name
- NCT04387344
- Where
- 2 sites in Italy
- Volunteers
- 25 people
- Sponsor
- University of Messina
Transthyretin Amyloidosis, Carpal Tunnel Syndrome
Transthyretin Cardiac Amyloidosis in Patients With Idiopathic Carpal Tunnel Syndrome Referred for Release Surgery
This study will determine the prevalence of transthyretin amyloidosis in pathology of the transverse carpal ligament and cardiac involvement using natriuretic peptides, electrocardiography and echocardiography in patients…
- Trial name
- PRATHYC (NCT04611204)
- Testing
- Descriptive cohort
- Where
- France
- Volunteers
- 6 people
- Sponsor
- University Hospital, Toulouse
Breast Cancer
Biomarker Testing and Treatment Patterns Among Patients With PIK3CA Mutation in Advanced Breast Cancer
This was a retrospective observational study of patients with advanced breast cancer (BC). This non-interventional study was conducted using discrete structured data and medical record abstraction, if needed, from patients…
- Trial name
- NCT05982886
- Where
- United States
- Volunteers
- 1,093 people
- Sponsor
- Novartis Pharmaceuticals
Gait, Drop Foot, Chemotherapy-induced Peripheral Neuropathy
Impact of an Orthotic Intervention in Children With Peripheral Neuropathy
This research study will investigate the effect of two orthotic (brace) devices for the ankle and foot on walking and ankle flexibility in children with cancer not involving the brain or spinal cord.
- Conditions
- Gait, Drop Foot, Chemotherapy-induced Peripheral Neuropathy, Acute Lymphocytic Leukemia, Pediatric, Rhabdomyosarcoma
- Trial name
- IOPN (NCT03655587)
- Testing
- Solid ankle foot orthotic, Resting night splint
- Where
- 2 sites in United States
- Volunteers
- 27 people
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Colorectal Cancer Metastatic
Influence of BRAF and PIK3K Status on the Efficacy of 5-Fluorouracil/Leucovorin/Oxaliplatin (FOLFIRI) Plus Bevacizumab or Cetuximab in Patients With RAS Wild-type Metastatic Colorectal Carcinoma and < 3 Circulating Tumor Cells (CTC)
The purpose of the study is to explore the influence of BRAF and PIK3K status on the efficacy of FOLFIRI plus Bevacizumab or Cetuximab, as first line therapy of patients with RAS wild-type metastatic colorectal carcinoma and < 3…
- Trial name
- VISNU-2 (NCT01640444)
- Testing
- FOLFIRI + bevacizumab, FOLFIRI + cetuximab
- Where
- Spain
- Volunteers
- 240 people
- Sponsor
- Spanish Cooperative Group for the Treatment of Digestive Tumours (TTD)
Nausea, Vomiting
The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia
This is a pilot clinical trial of dronabinol to treat disabling attacks of nausea and vomiting in patients with familial dysautonomia (FD, also known as Riley Day syndrome or hereditary sensory and autonomic neuropathy type III).
- Conditions
- Nausea, Vomiting, Familial Dysautonomia
- Trial name
- NCT02608931
- Testing
- Dronabinol
- Where
- United States
- Sponsor
- NYU Langone Health
Advanced Solid Tumours
A Study Investigating DNA-damage Response Agents in Molecularly Altered Advanced Cancer
The study is investigating efficacy, safety and tolerability of DNA-damage Response Agents (or Combinations), in participants with advanced/metastatic solid malignancies whose tumours contain molecular alterations
- Trial name
- NCT04564027
- Testing
- Ceralasertib
- Where
- 18 sites in United States, France and 1 more
- Volunteers
- 54 people
- Sponsor
- AstraZeneca