Clinical trials: Inborn Errors of Metabolism Disorders
- Condition Inborn Errors of Metabolism Disorders
- Funder type Industry (pharma, biotech, devices)
- Has posted results yes
Pompe Disease
Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease
The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease.
- Trial name
- NCT00688597
- Testing
- Duvoglustat
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Amicus Therapeutics
Acute Gout
Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicines Including a 12 Week Extension and a 1 Year Open-label Extension Study.
The purpose of this study was to demonstrate that canakinumab given upon acute gout flares relieves the signs and symptoms and prevents recurrence of gout flares in patients with frequent flares of gout for whom non-steroidal…
- Trial name
- β-RELIEVED-II (NCT01080131)
- Testing
- Canakinumab 150 mg, Triamcinolone acetonide 40 mg
- Where
- 108 sites in United States, Canada and 3 more
- Volunteers
- 226 people
- Sponsor
- Novartis Pharmaceuticals
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1) and Nitisinone 10 mg Tablets 'Baked' for 6 months @ 40°C/75% RH (Test Product 2) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750345
- Testing
- Nitisinone, Nitisinone Baked Tablet, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Acute Gout Flare
Study Utilizing Rilonacept in Gout Exacerbations
This purpose of this clinical research was to determine the efficacy and safety of an experimental drug called Rilonacept in participants with an acute gout attack. Participants participated in this study for 30 days.
- Trial name
- SURGE (NCT00855920)
- Testing
- Rilonacept, Indomethacin
- Where
- 44 sites in United States
- Volunteers
- 225 people
- Sponsor
- Regeneron Pharmaceuticals
ASCVD, Elevated Cholesterol
Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C
The purpose of this extension study was to evaluate the efficacy, safety, and tolerability of long-term dosing of Inclisiran. The study was a global multicenter study.
- Conditions
- ASCVD, Elevated Cholesterol, Heterozygous Familial Hypercholesterolemia, Homozygous Familial Hypercholesterolemia
- Trial name
- ORION-8 (NCT03814187)
- Testing
- Inclisiran Sodium
- Where
- 238 sites in United States, Canada and 11 more
- Volunteers
- 3,275 people
- Sponsor
- Novartis Pharmaceuticals
Gaucher Disease
A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD) leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00376168
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 11 sites in United States, Canada and 6 more
- Volunteers
- 32 people
- Sponsor
- Pfizer
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease.
- Trial name
- PAPAYA (NCT01410890)
- Testing
- alglucosidase alfa
- Where
- 12 sites in United States, Bulgaria and 4 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
GM2 Gangliosidosis, Tay-Sachs Disease
N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff…
- Conditions
- GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease
- Trial name
- NCT03759665
- Testing
- IB1001
- Where
- 8 sites in United States, Germany and 2 more
- Volunteers
- 30 people
- Sponsor
- IntraBio Inc
Gout
A Study of AC-201 Controlled-Release Tablet (CR Tablet) in Patients With Gout
The study is designed to test the urate-lowering effect, safety, and tolerability of AC-201CR in an initial dosing period, followed by the addition of a ULT to test the efficacy and safety of the combination and prophylaxis of…
- Trial name
- NCT02287818
- Testing
- AC-201, Febuxostat
- Where
- Taiwan
- Volunteers
- 127 people
- Sponsor
- TWi Biotechnology, Inc.
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
This is a multicenter Phase 2, multiple dose, dose escalation study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of SPR001 in adult patients with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT03257462
- Testing
- SPR001
- Where
- 9 sites in United States
- Volunteers
- 24 people
- Sponsor
- Spruce Biosciences
Urea Cycle Disorder
A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment.
- Trial name
- NCT02246218
- Testing
- RAVICTI
- Where
- 17 sites in United States, Canada
- Volunteers
- 27 people
- Sponsor
- Amgen
Mucopolysaccharidosis I, Hurler Syndrome
Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00258011
- Testing
- Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
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).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Hypercholesterolemia, Familial Hypercholesterolemia
A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)
The study will assess the safety and tolerability of Ezetimibe 10 mg+ Rosuvastatin 2.5 mg and Ezetimibe 10 mg+ Rosuvastatin 5.0 mg for up to 52 weeks in Japanese participants with hypercholesterolemia uncontrolled with…
- Trial name
- NCT02748057
- Testing
- Ezetimibe, Rosuvastatin
- Volunteers
- 135 people
- Sponsor
- Organon and Co
X-linked Hypophosphatemia
Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
The objectives of the study are to: Identify a dose and dosing regimen of burosumab, based on safety and pharmacodynamic (PD) effect, in pediatric XLH participants Establish the safety profile of burosumab for the treatment of…
- Trial name
- NCT02163577
- Testing
- burosumab
- Where
- 9 sites in United States, France and 2 more
- Volunteers
- 52 people
- Sponsor
- Kyowa Kirin, Inc.
Mucopolysaccharidosis IVA, Morquio A Syndrome
Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
The primary objective of this study was to evaluate the safety of a 2.0 mg/kg/week and a 4.0 mg/kg/week of BMN 110 in patients with Morquio A syndrome for up to 196 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01609062
- Testing
- BMN 110
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Amyloidosis
The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Participants Who Have Already Been Treated With ALN-TTR02 (Patisiran)
The purpose of this study is to evaluate the safety and efficacy of long-term dosing with ALN-TTR02 (patisiran) in participants with transthyretin (TTR) mediated amyloidosis (ATTR).
- Trial name
- NCT02510261
- Testing
- Patisiran
- Where
- 56 sites in United States, Argentina and 19 more
- Volunteers
- 211 people
- Sponsor
- Alnylam Pharmaceuticals
Wilson Disease
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation…
- Trial name
- NCT03403205
- Testing
- ALXN1840, SoC Therapy
- Where
- 56 sites in United States, Australia and 20 more
- Volunteers
- 214 people
- Sponsor
- Alexion Pharmaceuticals, Inc.