Clinical trials: Brain Malformation
Huntington Disease
Innovative Imaging and Cognitive BIOmarkers to Predict Huntington's Disease Progression
Intro Huntington's disease (HD) patients suffer from motor, cognitive and behavioral impairments, with heterogeneous phenotypes and variable time course.
- Trial name
- I2BIO-HD (NCT05808153)
- Testing
- radiotracer injection
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Epiretinal Membrane
Epiretinal Membrane in Patients With DR.
To report the prevalence of ERM among patients with diabetic retinopathy, and the possible associated risk factors.
- Trial name
- NCT07241845
- Testing
- OCT
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Assiut University
Pompe Disease
Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.
- Trial name
- NCT01230801
- Testing
- BMN 701
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher's Disease
Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ
Primary Objective To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the safety profile of imiglucerase in maximum dose in…
- Trial name
- SEED (NCT04656600)
- Testing
- Cerezyme® / Imiglucerase
- Where
- 5 sites in China
- Volunteers
- 12 people
- Sponsor
- Sanofi
Spinocerebellar Ataxia
The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia
The Cerebellum contains ten percent of the total volume of the brain and receives brain, spinal cord and vestibular sensory input.
- Trial name
- NCT01983631
- Testing
- Whole body vibration training
- Where
- Taiwan
- Volunteers
- 17 people
- Sponsor
- Chang Gung University
Lennox-Gastaut Syndrome
Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study
Background: Lennox-Gastaut syndrome (LGS) is a severe childhood epileptic syndrome with high pharmacoresistance. The treatment outcomes are still unsatisfied.
- Trial name
- NCT02731300
- Testing
- tDCS
- Volunteers
- 22 people
- Sponsor
- Khon Kaen University
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
OTC Deficiency
Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.
- Trial name
- NCT05345171
- Testing
- DTX301, Oral Corticosteroids, Sodium Acetate
- Where
- 16 sites in United States, Argentina and 8 more
- Volunteers
- 37 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Bronchopulmonary Dysplasia
Ascorbyl Peroxide Association With Bronchopulmonary Dysplasia
Urinary ascorbyl peroxide level in the first week of life will be a good predictor of Bronchopulmonary dysplasia (BPD) in preterm infants less than 33 weeks of gestation.
- Trial name
- NCT01439295
- Where
- Canada
- Volunteers
- 51 people
- Sponsor
- St. Justine's Hospital
Cerebral Palsy, Reliability
Turkish Validity And Reliability Of The Hammersmith Infant Neurological Evaluation (Hine)
The high risk of infants are defined as having a negative environmental and biological factor history, where these factors can lead to neuromotor development problems.
- Conditions
- Cerebral Palsy, Reliability, Infant Development, Infant, Premature, Diseases
- Trial name
- Hine (NCT04259177)
- Testing
- Scale
- Where
- Turkey (Türkiye)
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Sanko University
X-Linked Adrenoleukodystrophy
Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
This is a phase I/II, open label dose escalation study of multiple dose levels of NV1205 with a long-term treatment phase.
- Trial name
- NCT03196765
- Testing
- Sobetirome (NV1205)
- Where
- 13 sites in Argentina, Australia and 6 more
- Sponsor
- NeuroVia, Inc.
Alzheimer's Disease
A Post Marketing Study in Participants With Early Alzheimer's Disease Treated With Lecanemab
The primary purpose of this study is to investigate the characteristics of amyloid related imaging abnormalities (ARIA) and investigate the treatment continuation status (e.g., continuation, interruption) after the onset of ARIA…
- Trial name
- NCT06322667
- Testing
- No Intervention
- Where
- 3 sites in Japan
- Volunteers
- 5,000 people
- Sponsor
- Eisai Co., Ltd.
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Huntington Disease
Huntington's Disease Young Adult Study 2.0
The goal of this observational study is to learn about the first signs of disease in young adult carriers of the gene for Huntington's disease.
- Trial name
- HD-YAS (NCT06391619)
- Testing
- No intervention
- Where
- United Kingdom
- Volunteers
- 154 people
- Sponsor
- University College, London
Encephalopathy, HIV Infections
A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease.
To determine the safety and CSF penetration of combined ganciclovir and foscarnet treatment for presumed cytomegalovirus encephalitis or radiculomyelopathy.
- Conditions
- Encephalopathy, HIV Infections, Radiculitis
- Trial name
- NCT00000856
- Testing
- Foscarnet sodium, Ganciclovir
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Phenylketonuria (PKU)
A Long-Term Study of JNT-517 in Participants With Phenylketonuria
The goal of this Phase 3, open-label study is to evaluate the long-term safety of JNT-517 in pediatric and adult participants with Phenylketonuria (PKU) after completion of either Study JNT517-101 (NCT05781399) or JNT517-201…
- Trial name
- NCT06628128
- Testing
- JNT-517
- Where
- 12 sites in United States, Australia
- Volunteers
- 240 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Gaucher Disease Type 1
A Second-generation AI Based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy.
An open-labeled, prospective, single-center proof-of-concept study. Patients with Gaucher Disease aged 18-75 who received intravenous Enzyme Replacement Therapy once every two weeks were enrolled.
- Trial name
- NCT06050967
- Testing
- Enzyme replacement therapy for Gaucher disease in combination with altus care application
- Where
- Israel
- Volunteers
- 5 people
- Sponsor
- Hadassah Medical Organization
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University