Clinical trials: Metabolism, Inborn Errors
Acid Sphingomyelinase Deficiency
A Study to Evaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in France
This was an open-label study to evaluate safety and tolerability and provide enzyme replacement therapy (ERT) with olipudase alfa to patients with acid sphingomyelinase deficiency (ASMD) who completed the DFI12712 or the LTS13632…
- Trial name
- NCT06949358
- Testing
- Olipudase alfa
- Where
- 2 sites in France
- Volunteers
- 3 people
- Sponsor
- Sanofi
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
CADASIL, CADASIL (Diagnosis)
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin.
- Conditions
- CADASIL, CADASIL (Diagnosis), Moya Moya Disease, Moyamoya
- Trial name
- ALIGNED (NCT06935578)
- Where
- 17 sites in Italy
- Volunteers
- 500 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Pompe Disease, Pregnancy
Avalglucosidase Alfa Pregnancy Study
This is a worldwide, descriptive safety study collecting data on women and their offspring exposed to avalglucosidase alfa during pregnancy and/or lactation, to assess the risks of avalglucsodiase alfa on pregnancy and maternal…
- Trial name
- NCT05734521
- Testing
- avalglucosidase alfa-NGPT (GZ402666) IV, avalglucosidase alfa-NGPT (GZ402666)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Sanofi
Niemann-Pick Type C Disease, GM1 Gangliosidosis
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in…
- Conditions
- Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
- Trial name
- NCT07054515
- Testing
- AZ-3102
- Where
- 39 sites in United States, Argentina and 15 more
- Volunteers
- 147 people
- Sponsor
- Azafaros B.V.
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6
Natural History Study of Batten Disease
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities…
- Conditions
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT04644549
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
GM1 Gangliosidosis, Sandhoff Disease
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
- Conditions
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- PRONTO (NCT05109793)
- Where
- 13 sites in United States, Brazil and 4 more
- Volunteers
- 31 people
- Sponsor
- Azafaros B.V.
Wilson Disease
Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)
The goal of this clinical trial is to learn if GC310 (AAV5-ATP7B) gene therapy can treat Wilson's Disease (WD) in patients over the age of 18 years old.
- Trial name
- NCT07173933
- Testing
- GC310
- Where
- China
- Volunteers
- 15 people
- Sponsor
- GeneCradle Inc
Transthyretin-mediated Amyloidosis (ATTR Amyloidosis)
A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects
The purpose of this study is to determine the safety, tolerability, pharmacokinetics and pharmacodynamics of ALN-TTRSC02 in healthy subjects.
- Trial name
- NCT02797847
- Testing
- ALN-TTRSC02, Sterile Normal Saline (0.9% NaCl)
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
Familial Hypercholesterolemias, Weight Loss
Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity.
Background: Lipid lowering response to weight loss in subjects with genetic hyperlipidemias and overweight or obesity and its effect on cholesterol metabolism has not been studied.
- Conditions
- Familial Hypercholesterolemias, Weight Loss, Familial Combined Hypercholesterolemia, Obesity
- Trial name
- NCT01995149
- Testing
- Weight loss and dietary intervention
- Volunteers
- 78 people
- Sponsor
- Instituto Aragones de Ciencias de la Salud
MPS IIIB (Sanfilippo B Syndrome)
Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB
The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in participants with Mucopolysaccharidosis type IIIB (MPS IIIB)
- Trial name
- NCT02293408
- Where
- 7 sites in United States, Brazil and 4 more
- Volunteers
- 30 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Mixed Hyperlipoproteinemia
Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction
Pro-Omega LDL reduces low-density lipoprotein cholesterol and triglycerides in subjects with mixed hyperlipoproteinemia.
- Trial name
- PrOteCT (NCT02069106)
- Testing
- Pro-Omega LDL
- Sponsor
- Nordic Pharma, USA
Fabry Disease
Alpha-Galactosidase A Replacement Therapy for Fabry Disease
This study will determine the safety of the drug Replagal or treating patients with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00048906
- Testing
- DRX005B
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gas; Inhalation, Anesthesia
CARbon Impact of aNesthesic Gas
Assessing the impact of anesthesia practice on global warming and carbon footprint becomes part of the standard of care and is growing concern within the anesthesia community.
- Trial name
- CARING (NCT04163848)
- Testing
- Pollution
- Where
- Canada
- Volunteers
- 58 people
- Sponsor
- Ciusss de L'Est de l'Île de Montréal
Cerebrotendinous Xanthomatoses
A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)
This study is designed to demonstrate the beneficial effect of CDCA in the treatment of CTX-associated diarrhea in approximately 10 participants aged 2-75 years old with newly diagnosed CTX or suspected CTX who have never…
- Trial name
- NCT06260748
- Testing
- Chenodeoxycholic acid
- Where
- Israel
- Sponsor
- Leadiant Biosciences, Inc.
Familial Hypercholesterolemia
Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP
The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).
- Trial name
- NCT07653555
- Testing
- Cascade testing, Standard of Care
- Where
- United States
- Volunteers
- 480 people
- Sponsor
- Mayo Clinic
Gaucher Disease Type 1, Gaucher Disease Type 3
Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
Part 1: Biomarker evaluation/screening phase Primary Objectives: Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1)…
- Trial name
- LEAP (NCT02843035)
- Testing
- venglustat (GZ402671), imiglucerase
- Where
- 7 sites in United States, Germany and 2 more
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines.
- Trial name
- GM2-TGEX (NCT07445490)
- Testing
- blood sample
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lowe Syndrome
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males).
- Trial name
- NCT00359515
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Lipoprotein Lipase Deficiency
Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies
Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited condition caused by homozygosity or compound heterozygosity for mutations within the LPL gene.
- Trial name
- NCT01448577
- Where
- 2 sites in Canada
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Amsterdam Molecular Therapeutics
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