Clinical trials: Inborn Errors of Metabolism
Fabry's Disease, Pregnancy
Fabry's Disease and Pregnancy (PREFAB)
Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease…
- Trial name
- PREFAB (NCT02582294)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Groupe Hospitalier Diaconesses Croix Saint-Simon
Hepatolenticular Degeneration; Wilson
Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson's Disease
In earlier studies, it was found that patients of Wilson disease with new diagnosed who only has neurological symptoms often had DWI hyper-intensity in brain MRI, which was more common in putamen and midbrain, indicating that the…
- Trial name
- NCT06196931
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Hospital Affiliated to the Institute of Neurology, Anhui University of Chinese Medicine
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet Plus Ganciclovir in the Treatment of Cytomegalovirus of the Eye in Patients With AIDS Who Have Already Been Treated With Ganciclovir
To examine the safety and tolerance of the administration of ganciclovir and foscarnet given together or alternately; to determine the interactive pharmacokinetics (blood level) profile of long-term combined and alternating…
- Trial name
- NCT00000970
- Testing
- Foscarnet sodium, Ganciclovir
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Niemann-Pick Disease, Type C1
Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
A prospective, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 3 and older with confirmed diagnosis of Niemann Pick disease type C1 (NPC1).
- Trial name
- TransportNPC (NCT04860960)
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 35 sites in United States, Argentina and 11 more
- Volunteers
- 94 people
- Sponsor
- Cyclo Therapeutics, Inc.
Tyrosinemias, Alkaptonuria
Evaluation of TYR Sphere
For 28 days, 20 patients with tyrosinaemia will take TYR sphere as part of the usual dietary management of their condition. Patients will record their adherence to recommended intakes each day, gastrointestinal symptoms (if any)…
- Conditions
- Tyrosinemias, Alkaptonuria, Tyrosinemia, Type I, Tyrosinemia, Type II
- Trial name
- NCT04196959
- Testing
- TYR sphere
- Where
- 2 sites in United Kingdom
- Volunteers
- 18 people
- Sponsor
- Vitaflo International, Ltd
Fabry Disease, Proteinuria
The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study
The primary hypothesis is that titration of ACE inhibitor and Angiotensin Receptor Blockers (ARBs)to reduce urine protein excretion to < 500 mg per day in Fabry Patients receiving agalsidase beta therapy at 1 mg/kg every two…
- Trial name
- FAACET (NCT00446862)
- Testing
- enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
- Where
- 6 sites in United States, Slovenia
- Volunteers
- 36 people
- Sponsor
- University of Alabama at Birmingham
Lipid Metabolism, Inborn Errors, Hypercholesterolemia, Autosomal Dominant
Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
The purpose of this study is to evaluate the safety and efficacy of mipomersen (ISIS 301012) in subjects with homozygous familial hypercholesterolemia on lipid-lowering therapy.
- Conditions
- Lipid Metabolism, Inborn Errors, Hypercholesterolemia, Autosomal Dominant, Hyperlipidemias, Metabolic Diseases
- Trial name
- RADICHOL 1 (NCT00607373)
- Testing
- mipomersen
- Where
- 10 sites in United States, Brazil and 5 more
- Volunteers
- 51 people
- Sponsor
- Kastle Therapeutics, LLC
Dementia, Neurodegenerative Diseases
Retinal Hyperspectral Imaging in Neurodegenerative Diseases
Hyperspectral retinal imaging is a non-invasive imaging modality in which a series of images of the retina are captured using light of different wavelengths.
- Conditions
- Dementia, Neurodegenerative Diseases, Alzheimer Disease, Parkinson Disease
- Trial name
- NCT07545473
- Testing
- Hyperspectral camera
- Where
- Australia
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- Center for Eye Research Australia
Gout, Hyperuricemia
Mass Balance Study of [14C]LC350189 in Healthy Volunteers
This is a Phase 1, open-label, single-dose, mass balance study designed to evaluate the absorption, metabolism, and excretion of [14C] radiolabeled LC350189 after oral administration.
- Trial name
- NCT04070846
- Testing
- [14C] LC350189
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- LG Chem
Morquio Disease, MPS - Mucopolysaccharidosis
Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?
The present study seeks to interview women with Morquio A and Morquio B syndrome, to explore their concerns surrounding pregnancy and the impact of ERT on their perspectives, in comparison with the control group of Morquio B…
- Trial name
- MorqPreg (NCT03150069)
- Testing
- Interview
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Emory University
Metabolism, Inborn Errors
Cardiac Manifestation and Inherited Metabolic Diseases
The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.
- Trial name
- NCT04999566
- Where
- Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Lausanne
Rheumatoid Arthritis (RA), Gouty Arthritis (GA)
Musculoskeletal Ultrasound for Differentiating Rheumatoid and Gouty Arthritis
Rheumatoid arthritis (RA) and gouty arthritis (GA) are two common forms of joint inflammation that can present with very similar physical symptoms, making them difficult to tell apart early in the disease process.
- Conditions
- Rheumatoid Arthritis (RA), Gouty Arthritis (GA), Gout, Inflammatory Arthritis
- Trial name
- NCT07657156
- Volunteers
- 100 people
- Sponsor
- Assiut University
Urea Cycle Disorder
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
This is a randomized, controlled, open-label parallel arm study to assess the safety, tolerability, pharmacokinetics and ammonia control, of RAVICTI® as compared to Sodium phenylbutyrate (NaPBA) in urea cycle disorder subjects…
- Trial name
- NCT03335488
- Testing
- RAVICTI, NaPBA
- Where
- 11 sites in United States, Italy and 2 more
- Volunteers
- 16 people
- Sponsor
- Amgen
Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders
OBJECTIVES: I. Assess the efficacy of dichlorphenamide in the treatment of episodic weakness attacks in patients with hyperkalemic periodic paralysis, paramyotonia congenita with periodic paralysis, and hypokalemic periodic…
- Conditions
- Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis, Paramyotonia Congenita
- Trial name
- NCT00004802
- Testing
- dichlorphenamide
- Volunteers
- 64 people
- Sponsor
- National Center for Research Resources (NCRR)
Chronic Heart Failure, Old Myocardial Infarction
Japanese OMI Treatment With Kit-positive Cells for Enhanced Regeneration
The purpose of this study is to determine the safety and effectiveness of intracoronary infusion of autologous cardiac stem cells in patients with ischemic cardiomyopathy.
- Trial name
- JOKER (NCT03351400)
- Testing
- Stem cells administered to participants
- Where
- Japan
- Volunteers
- 6 people
- Sponsor
- Sakakibara Heart Institute
X-linked Hypophosphatemia
Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
This is phase 3b open-label, international, multicenter study to continue to monitor the long-term safety and efficacy of burosumab in adult patients with XLH that participated in previous clinical trials with burosumab…
- Trial name
- NCT03920072
- Testing
- Burosumab
- Where
- 10 sites in France, Ireland and 2 more
- Volunteers
- 35 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
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
Homozygous Familial Hypercholesterolemia
Safety and Effectiveness of Evinacumab for the Treatment of Homozygous Familial Hypercholesterolemia
This is an open-label study designed to evaluate the long-term safety and efficacy of evinacumab, a fully human ANGPTL3 antibody, in patients with homozygous familial hypercholesterolemia (HoFH), in a real-life setting in Canada.
- Trial name
- NCT05611528
- Testing
- Evinacumab
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- Daniel Gaudet