Clinical trials: Brain Diseases, Metabolic, Inborn
Mitochondrial Diseases, Mitochondrial Myopathies
Nicotinamide Riboside and Mitochondrial Biogenesis
Mitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce depends on how much energy the body needs to function and this energy production can be severely impaired…
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Progressive External Ophthalmoplegia, Progressive Ophthalmoplegia
- Trial name
- NCT03432871
- Testing
- Nicotinamide Riboside
- Where
- United Kingdom
- Volunteers
- 13 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Phenylketonurias
PKU Skin Stripping
PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.
- Trial name
- NCT04368624
- Testing
- Skin Tape, Blood Draw
- Where
- United States
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Fabry Disease
FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation
In Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) systemic inflammation recently gained attention as a possible key pathophysiologic process involved in the development of cardiac hypertrophy and progression of the…
- Trial name
- FASHION (NCT05761834)
- Testing
- Sample blood and 2D-echocardiography with Doppler
- Where
- Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Cerebral Amyloid Angiopathy, CAA - Cerebral Amyloid Angiopathy
Enpowering Progression Risk of Cerebral Amyloid Angiopathy
Cerebral amyloid angiopathy (CAA) is a microangiopathy characterized by the progressive deposition of β-amyloid in cerebral vessel walls, contributing to intracerebral hemorrhages, cognitive decline, and other clinical…
- Trial name
- PRIORITY (NCT06960538)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Gaucher Disease, Acid SphingoMyelinase Deficiency
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Trial name
- NCT05992532
- Where
- 23 sites in Spain
- Volunteers
- 210 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Friedreich's Ataxia
A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia
The primary objective of this study is to evaluate the long-term safety and tolerability of deferiprone in subjects with Friedreich's ataxia (FRDA).
- Trial name
- NCT00897221
- Testing
- Deferiprone oral solution 100mg/mL, Deferiprone oral solution 100 mg/mL
- Where
- 4 sites in Belgium, France and 2 more
- Volunteers
- 36 people
- Sponsor
- ApoPharma
Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1.
- Trial name
- ZSDvision (NCT06190626)
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Phenylketonurias
Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients
The primary objective is of this Phase 1 study is to evaluate the safety and tolerability of daily, multiple, oral doses of CDX-6114 when administered to patients with PKU for 14 days.
- Trial name
- NCT04256655
- Testing
- cohort 1 0.225g, Cohort 2 0.75g, Cohort 3 2.25 g
- Sponsor
- Société des Produits Nestlé (SPN)
Parkinson Disease, Gaucher Disease
Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism
The purpose of this study is to determine if participants have changes in dopamine cells in their brain using DaTSCAN™ brain imaging.
- Conditions
- Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
- Trial name
- NCT01358474
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Gaucher Disease, Cerebroside Lipidosis Syndrome
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status.
- Conditions
- Gaucher Disease, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00358943
- Where
- 317 sites in United States, Argentina and 50 more
- Volunteers
- 12,000 people
- Sponsor
- Genzyme, a Sanofi Company
Pain
Evaluation of the Tolerability of Switching Subjects on Chronic ATC Opioid Therapy to Buprenorphine HCl Buccal Film
The primary aim of this study is to determine if chronic pain subjects on around-the-clock opioids who are receiving 100 to 220 mg oral morphine sulfate equivalent (MSE) can be safely transitioned on to buprenorphine…
- Trial name
- NCT01871285
- Testing
- Buprenorphine, Oxycodone, Morphine sulfate
- Where
- 3 sites in United States
- Volunteers
- 39 people
- Sponsor
- BioDelivery Sciences International
Hurler Syndrome, Cerebral Palsy
Effects of Growth Hormone in Chronically Ill Children
The specific aims for this study are - 1. To determine the effect of GH on height, height velocity, body weight and lean body mass.
- Conditions
- Hurler Syndrome, Cerebral Palsy, Juvenile Rheumatoid Arthritis, Crohn Disease
- Trial name
- NCT00286689
- Testing
- Growth Hormone, Whole body Protein turnover, DEXA scan
- Where
- United States
- Sponsor
- University of Texas Southwestern Medical Center
Tyrosinosis, Hepatorenal Tyrosinemia
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
- Conditions
- Tyrosinosis, Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, Fah Deficiency
- Trial name
- BioTyrosin (NCT03284658)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Acute Noninfectious Posterior, Intermediate, or Pan Uveitis
Study of FTY720 in Patients With Uveitis
This study will assess the safety, tolerability, and efficacy of FTY720 in patients with acute, noninfectious intermediate, posterior and pan uveitis
- Trial name
- NCT01791192
- Testing
- FTY720, Oral Corticosteroid
- Sponsor
- Novartis Pharmaceuticals
Urea Cycle Disorders, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
Gaucher Disease, Type 1
Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV)
Background: In order to allow our satisfied patients, who have successfully completed 24 months of rapid intravenous infusion of Velaglucerase alfa (VPRIV), to continue with the 10 minutes IV therapy, the clinical trial framework…
- Trial name
- NCT04120506
- Testing
- VPRIV
- Volunteers
- 15 people
- Sponsor
- Shaare Zedek Medical Center
Fabry Disease
Safety Study of Replagal® Therapy in Children With Fabry Disease
The purpose of this study is to assess the safety of Replagal in children with Fabry disease who who have not previously been treated with enzyme replacement therapy (ERT).
- Trial name
- NCT01363492
- Testing
- Replagal (agalsidase alfa)
- Where
- 5 sites in United States
- Volunteers
- 15 people
- Sponsor
- Shire
Gaucher Disease Type 3
Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)
A 96-week, open-label, Phase 2 study to evaluate the efficacy and safety of Nizubaglustat (AZ-3102) in patients with Gaucher disease type 3 (GD3).
- Trial name
- NCT07715084
- Testing
- AZ-3102
- Where
- 7 sites in India, Pakistan and 1 more
- Volunteers
- 20 people
- Sponsor
- Azafaros B.V.
Pseudohypoparathyroidism, Growth Hormone Deficiency, Dwarfism
Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)
We have recently demonstrated resistance to GHRH leading to GH deficiency in patients with Pseudohypoparathyroidism type Ia (Mantovani et al., J Clin Endocrinol Metab, 2003. 88: 4070-4074).
- Trial name
- NCT00497484
- Testing
- recombinant human somatotropin
- Where
- Italy
- Sponsor
- University of Milan
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