Clinical trials: Inborn Errors of Metabolism Disorders
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Essential Hypertension
Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.
- Trial name
- NCT01848873
- Testing
- Amlodipine, amlodipine-FA tablet, low dose group, amlodipine-FA tablet ,high dose group
- Where
- 16 sites in China
- Volunteers
- 756 people
- Sponsor
- Shenzhen Ausa Pharmed Co.,Ltd
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Biotinidase Deficiency
Study of ORL-1B in Patients With Biotinidase Deficiency
An Open-label, Single-arm, Phase 2 Study of Biotin in Patients With Biotinidase Deficiency.
- Trial name
- NCT03269045
- Testing
- ORL-1B
- Volunteers
- 20 people
- Sponsor
- Orpha Labs
Developmental Delay, Skeletal Abnormalities
Biomarker for Sly Disease (MPS VII) (BioSly)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)
- Conditions
- Developmental Delay, Skeletal Abnormalities, Hepatomegaly, Splenomegaly
- Trial name
- BioSly (NCT02298699)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Gas and Bloating, Diarrhea
Radicle GI Health RDH™: A Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
A Randomized, Double-Blind, Placebo-Controlled Direct-to-Consumer Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
- Conditions
- Gas and Bloating, Diarrhea, Constipation
- Trial name
- NCT07230821
- Testing
- GI Health Active Product 1
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Radicle Science
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 119 sites in United States, Argentina and 30 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
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
Elective Colonoscopy
Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep®
The purpose of this dose finding/comparative efficacy study is to first single out the most appropriate dose of mannitol for bowel preparation (phase II) and, subsequently, demonstrate the non-inferiority of the efficacy of…
- Trial name
- SATISFACTION (NCT04759885)
- Testing
- Phase II: NTC015 low dose, Phase II: NTC015 medium dose, Phase II: NTC015 high dose
- Where
- 35 sites in France, Germany and 2 more
- Volunteers
- 886 people
- Sponsor
- NTC srl
Ornithine Transcarbamylase (OTC) Deficiency
Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
This is a Phase 1/2, open-label, single arm, multicenter, safety and dose finding study of DTX301 in adults with late-onset OTC deficiency.
- Trial name
- CAPtivate (NCT02991144)
- Testing
- scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Pompe Disease
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
- Trial name
- NCT01526785
- Testing
- Alglucosidase alfa
- Where
- 51 sites in United States
- Volunteers
- 113 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Growth and Development Study of Alglucosidase Alfa
Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
- Trial name
- NCT00486889
- Testing
- alglucosidase alfa
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
To detect early signs of cardiac and metabolic alterations as well as to evaluate the progression of cardiac and metabolic impairments in mildly affected patients with Fabry Disease using high sensitive diagnostic methods.
- Trial name
- SOPHIA (NCT01210196)
- Testing
- MRI
- Where
- 11 sites in Belgium, Czechia and 4 more
- Volunteers
- 36 people
- Sponsor
- Shire
Alpha-Mannosidosis
Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis
The overall objective is to evaluate the long-term efficacy, safety and tolerability of repeated Lamazym i.v. treatment in patients 5-21 years of age with alpha-Mannosidosis
- Trial name
- NCT01681940
- Testing
- Lamazym
- Where
- 4 sites in Belgium, Denmark and 2 more
- Volunteers
- 10 people
- Sponsor
- Zymenex A/S
Fabry Disease
Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease
The goal of this observational study is to learn how enzyme replacement therapy works in patients with Fabry disease. The main question it aims to answer is: What medical problems do participants have? Participants already on…
- Trial name
- FAVORIT (NCT06880250)
- Where
- 23 sites in Russia
- Volunteers
- 100 people
- Sponsor
- NPO Petrovax
Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy (BioTRAP)
International, multicenter, observational, longitudinal study to identify biomarker/s for the development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic…
- Conditions
- Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin Amyloid Cardiopathy
- Trial name
- BioTRAP (NCT02713880)
- Where
- 2 sites in Germany, India
- Sponsor
- CENTOGENE GmbH Rostock
Hypercholesterolemia, Familial, Heterozygous Familial Hypercholesterolemia
A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
The purpose of this study is to determine the pharmacokinetics of laropiprant following administration of a single dose of 1 (Panel A) and 2 (Panel B) combination tablets of MK-0524A in adolescents with heterozygous familial…
- Trial name
- NCT01583647
- Testing
- MK-0524A
- Volunteers
- 10 people
- Sponsor
- Merck Sharp & Dohme LLC
Familial Hypercholesterolemia
Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients
This study will evaluate the effect of APL180 on endothelial function measured by forearm venous occlusion plethysmography in patients with familial hypercholesterolemia.
- Trial name
- NCT00751608
- Testing
- APL180
- Sponsor
- Novartis Pharmaceuticals
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