Clinical trials: Brain Diseases, Metabolic, Inborn
Friedreich Ataxia
Study to Evaluate Multiple Ascending Dose and Multi-Dose of DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic, and pharmacodynamic effects of multiple doses of intravenous DT-216 in adult patients with Friedrich Ataxia.
- Trial name
- NCT05573698
- Testing
- DT-216
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Design Therapeutics, Inc.
Glycogen Storage Disease Type II, Glycogenosis 2
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00074932
- Testing
- Myozyme
- Where
- 8 sites in United States
- Volunteers
- 9 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis I, Mucopolysaccharidosis II
MPS (RaDiCo Cohort) (RaDiCo-MPS)
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV
- Trial name
- NCT06036693
- Where
- 23 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Gaucher Disease
Role of Vitamin E in Gaucher Disease Patients
gaucher disease (GD) can be classified into three clinical types .type 1,the most common type ,is the chronic non neuronpathic form of the disease,which shows gighly variable signs and symptoms and variable course,with…
- Trial name
- NCT06211478
- Testing
- Vitamin E
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Ain Shams University
Gaucher's Disease
A Study to Evaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the Mouth
A study to assess the absorption of eliglustat through the mouth in healthy subjects and the safety of any systemic exposure resulting from oral surface absorption of eliglustat in healthy subjects.
- Trial name
- Acronym (NCT06193304)
- Testing
- Eliglustat
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Sanofi
Cardiac Diseases, Muscular Weakness
Biomarker for Pompe Disease (BioPompe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)
- Conditions
- Cardiac Diseases, Muscular Weakness, Hepato-splenomegaly, Lung Disease
- Trial name
- BioPompe (NCT01457443)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Friedreich Ataxia, Neuro-Degenerative Disease
FA Clinical Outcome Measures
This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions.
- Trial name
- FA-COMS (NCT03090789)
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Neurodegenerative Diseases, Alzheimer Disease
Sociodemographic Factors and Criminal Behaviour Preceding Neurodegenerative Disease - Retrospective Register Study
In this retrospective register study, clinically classified individuals with neurodegenerative disease from the years 2010-2021 will be verified from the clinical records from KUH and Oulu University Hospital (OUH).
- Conditions
- Neurodegenerative Diseases, Alzheimer Disease, Frontotemporal Dementia, Lewy Body Disease
- Trial name
- DEGERWD (NCT06209515)
- Where
- Finland
- Volunteers
- 61,292 people
- Sponsor
- Kuopio University Hospital
Friedreich Ataxia
Study to Evaluate DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic and pharmacodynamic effects of intravenous DT-216 in adult patients with Friedreich Ataxia.
- Trial name
- NCT05285540
- Testing
- DT-216
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Design Therapeutics, Inc.
Ornithine Transcarbamylase Deficiency Disease
Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency
OBJECTIVES: I. Determine the safety, feasibility, and potential efficacy of intravascular adenoviral vector mediated gene transfer in the liver in adults with partial ornithine transcarbamylase deficiency.
- Trial name
- NCT00004498
- Testing
- Adenoviral Vector-Mediated Gene Transfer
- Volunteers
- 21 people
- Sponsor
- University of Pennsylvania
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
Sjogren-Larsson Syndrome
ADX-629 Therapy for Sjogren-Larsson Syndrome
This research study will determine whether orally administered ADX-629 is safe and has biochemical efficacy in participants with Sjögren-Larsson syndrome (SLS), a rare inherited disorder of fatty aldehyde metabolism The disease…
- Trial name
- NCT05443685
- Testing
- ADX-629
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Nebraska
Adenovirus, Anesthesia
Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care
Understudied drugs will be administered to children per standard of care as prescribed by their treating caregiver and only biological sample collection during the time of drug administration will be involved.
- Conditions
- Adenovirus, Anesthesia, Anxiety, Anxiolysis
- Trial name
- PTN_POPS (NCT01431326)
- Testing
- The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
- Where
- 52 sites in United States, Canada and 3 more
- Volunteers
- 3,520 people
- Sponsor
- Daniel Benjamin
Mucopolysaccharidosis, Hurler Syndrome
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome
- Trial name
- NCT01043640
- Testing
- Campath-1H, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Wilson Disease
A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy…
- Trial name
- NCT04884815
- Testing
- UX701, Standard of Care (SOC)
- Where
- 16 sites in United States, Portugal and 2 more
- Volunteers
- 82 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Niemann-Pick Disease, Type C
Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1
This is a multicenter, multinational, open-label study of VTS-270 to evaluate the long-term safety and tolerability of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in participants transitioning from Study VTS301 (Parts A/B…
- Trial name
- NCT03879655
- Testing
- VTS-270
- Where
- Costa Rica
- Volunteers
- 2 people
- Sponsor
- Mandos LLC
Fabry Disease
Aortic Dimensions in Patients With Fabry Disease
We will conduct a retrospective study aiming to define the characteristics, determinants, and progression of ascending aortic dilatation in adults with Fabry disease, using echocardiography and/or cardiac MRI
- Trial name
- DATA-Fab (NCT06956573)
- Testing
- aorta imaging
- Volunteers
- 200 people
- Sponsor
- University Hospital, Caen
Anarthria, Dysarthria
Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia (BG-Speech-02)
The goal of this study is to improve our understanding of speech production, and to translate this into medical devices called intracortical brain-computer interfaces (iBCIs) that will enable people who have lost the ability to…
- Conditions
- Anarthria, Dysarthria, Tetraplegia, Spinal Cord Injuries
- Trial name
- BG-Speech-02 (NCT06094205)
- Testing
- BrainGate Neural Interface System
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Leigh R. Hochberg, MD, PhD.
Phenylketonuria (PKU)
Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU
The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in adults with PKU.
- Trial name
- Prism-2 (NCT01889862)
- Testing
- BMN165 20mg/day, BMN165 40mg/day
- Where
- 29 sites in United States
- Volunteers
- 215 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher Disease
Home Therapy With VPRIV in Gaucher's Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Gaucher's Disease receiving their enzyme replacement therapy with VPRIV (Velaglucerase alfa)at their home…
- Trial name
- NCT01356537
- Where
- 11 sites in Austria, Germany
- Volunteers
- 34 people
- Sponsor
- Shire
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