Clinical trials: Brain Diseases, Metabolic, Inborn
Fabry Disease
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
This is an 18-month, multicenter, randomized, active-control, parallel-group Phase 3 study, in which participants will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat)…
- Trial name
- CARAT (NCT05280548)
- Testing
- Venglustat (GZ402671), Agalsidase alfa, Agalsidase beta (GZ419828)
- Where
- 54 sites in United States, Austria and 17 more
- Volunteers
- 104 people
- Sponsor
- Sanofi
Friedreich's Ataxia
Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to: obtain natural history data on individuals affected by FRDA relate clinical assessments and results…
- Trial name
- EFACTS (NCT02069509)
- Where
- 16 sites in Austria, Belgium and 8 more
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- European Friedreich's Ataxia Consortium for Translational Studies
Ornithine Transcarbamylase (OTC) Deficiency
Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency
Determine the long-term safety of DTX301 following a single intravenous (IV) dose in adults with late-onset ornithine transcarbamylase (OTC) deficiency.
- Trial name
- CAPtivate (NCT03636438)
- Testing
- No Intervention
- Where
- 9 sites in United States, Canada and 3 more
- Volunteers
- 11 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonuria
Liver Cell Transplant for Phenylketonuria
Human phenylketonuria (PKU) results from phenylalanine hydroxylase (PAH) deficiency, and represents one of the most common and extensively studied single-gene Mendelian disorders in humans.
- Trial name
- NCT01465100
- Testing
- Preparative Radiation Therapy, Hepatocyte Transplant, Immunosuppression
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ira Fox
Phenylketonurias, PKU
Evaluation of PKU Sphere in Italy
20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so.
- Trial name
- NCT04679467
- Testing
- PKU sphere
- Where
- 4 sites in Italy
- Volunteers
- 13 people
- Sponsor
- Vitaflo International, Ltd
Fabry Disease
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.
- Trial name
- MODERN (NCT06663358)
- Testing
- Pegunigalsidase-alfa
- Where
- 10 sites in United States, Slovenia and 1 more
- Volunteers
- 100 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Phenylketonurias
Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06687733
- Testing
- NGGT002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- NGGT (Suzhou) Biotechnology Co., Ltd.
Systemic Juvenile Idiopathic Arthritis, Hereditary Periodic Fevers
A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies
The objective of this extension protocol is to collect safety data (serious and non-serious adverse events) and to provide continuous canakinumab to patients in France who completed study CACZ885G2301E1(NCT00891046), CACZ885G2306…
- Trial name
- NCT02334748
- Testing
- canakinumab
- Where
- 3 sites in France
- Volunteers
- 31 people
- Sponsor
- Novartis Pharmaceuticals
Huntington's Disease
Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E)
Huntington's disease (HD) is a slowly progressive disorder that devastates the lives of those affected and their families. There are no treatments that slow the progression of HD, only mildly effective symptomatic therapies are…
- Trial name
- CREST-E (NCT00712426)
- Testing
- Creatine Monohydrate
- Where
- 47 sites in United States, Australia and 2 more
- Volunteers
- 553 people
- Sponsor
- Massachusetts General Hospital
Inclusion Body Myositis, Myotonic Dystrophy 1
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral Dystrophy
- Trial name
- Risk of fall (NCT07072676)
- Testing
- Assistive gait devices combined with physiotherapy
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
Chronic Pain in the Extremities, Chronic Abdominal Pain
Screening for Fabry Disease in a Pediatric Population at Risk
The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities
- Conditions
- Chronic Pain in the Extremities, Chronic Abdominal Pain, Fabry Disease
- Trial name
- NCT02152189
- Testing
- Screening for Fabry disease
- Where
- Germany
- Volunteers
- 1,422 people
- Sponsor
- University Hospital Heidelberg
Maple Syrup Urine Disease
Liquid Valine and Isoleucine in Maple Syrup Urine Disease
This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new…
- Trial name
- NCT06581991
- Testing
- Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)
- Volunteers
- 5 people
- Sponsor
- Meta Healthcare Ltd
X-linked Adrenoleukodystrophy
A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
In this pilot study, the investigators will assess the safety of two high-dose regimens of oral vitamin D supplementation and measure the effects of vitamin D supplementation on markers of oxidative stress and inflammation in the…
- Trial name
- NCT02595489
- Testing
- vitamin D3
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Stanford University
Gaucher Disease, Type 1
Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy
Ambroxol hydrochloride, an over-the-counter antitussive available in many markets , was identified as an interesting pharmacological chaperone.
- Trial name
- NCT03950050
- Testing
- Ambroxol
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Shaare Zedek Medical Center
Pompe Disease
Clinical Specimen Collection From Pompe Disease Patients
Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01.
- Trial name
- NCT04476550
- Testing
- Filgrastim
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Serhat Gumrukcu, MD PhD
Fabry Disease
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Friedreich Ataxia, Cardiomyopathy
Clinical Course Of Disease In Participants With FA-CM
Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)
- Trial name
- NCT06865482
- Where
- 19 sites in United States, Brazil and 6 more
- Volunteers
- 65 people
- Sponsor
- Lexeo Therapeutics
Hypercholesterolemia, Hypercholesterolemia, Familial
PET Imaging of Inflammation and Lipid Lowering Study
While 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging has been used as an early marker of drug efficacy in numerous clinical cardiovascular drug trials, as a glucose analog, its signal in the vasculature…
- Conditions
- Hypercholesterolemia, Hypercholesterolemia, Familial, Atherosclerosis, Carotid Artery Plaque
- Trial name
- PIILL (NCT04073797)
- Testing
- Inclisiran, 68Ga-DOTATATE PET-MRI, Colchicine
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- University of Cambridge
Gaucher Disease Type 3
Effect of Enzyme Replacement Therapy on Cardiac Function in Children With Gaucher Disease Type 3
all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital
- Trial name
- NCT06627543
- Testing
- echo
- Where
- Egypt
- Volunteers
- 44 people
- Sponsor
- Noha Osman
Phenylketonuria
Eating Disorders in Patients With Phenylketonuria
The prevalence of eating disorders and BMI are significantly higher in PKU patients than in the general population. The protein-restricted diet associated with high carbohydrate intake and the severity of the genetic defect and…
- Trial name
- TCA-PKU (NCT07698743)
- Where
- France
- Volunteers
- 70 people
- Sponsor
- Central Hospital, Nancy, France
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