Clinical trials: Inherited Metabolic Disorders
Congenital Adrenal Hyperplasia
A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
This is a Phase 2 multicenter, single-blind, multiple dose study to evaluate the safety and efficacy of orally administered ATR-101 in subjects with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT02804178
- Testing
- ATR-101
- Where
- 6 sites in United States
- Volunteers
- 10 people
- Sponsor
- Millendo Therapeutics, Inc.
Hyperoxaluria
Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria
The aim of this study is to assess the efficacy and safety of betaine in reducing urine oxalate excretion of Type 1 Primary Hyperoxaluria (PHI) patients.
- Trial name
- NCT00283387
- Testing
- Betaine
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Mayo Clinic
Fabry Disease
A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
The purpose of this study was to determine whether 2 alternative dosing regimens of Fabrazyme (Agalsidase beta) (1.0 mg/kg every 4 weeks or 0.5 mg/kg every 2 weeks) were effective in treatment-naïve pediatric participants without…
- Trial name
- FIELD (NCT00701415)
- Testing
- Agalsidase beta
- Where
- 12 sites in United States, Argentina and 7 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
Diabetic Macular Edema
A Trial to Evaluate the Efficacy, Durability, and Safety of KSI-301 Compared to Aflibercept in Participants With Diabetic Macular Edema (DME)
This Phase 3 study will evaluate the efficacy, durability, and safety of KSI-301 compared to aflibercept in participants with treatment-naïve DME.
- Trial name
- GLEAM (NCT04611152)
- Testing
- KSI-301, Aflibercept
- Where
- 75 sites in United States, Germany and 6 more
- Volunteers
- 460 people
- Sponsor
- Kodiak Sciences Inc
Gouty Arthritis
Long Term Study of Canakinumab (ACZ885) in Patients With Gout
This 24-week open-label extension study is designed to provide additional long-term safety data up to a total of 1-year for patients rolling over from the core study, and to collect further efficacy and tolerability data for all…
- Trial name
- NCT00927810
- Testing
- Canakinumab
- Where
- 45 sites in United States, Argentina and 16 more
- Volunteers
- 341 people
- Sponsor
- Novartis Pharmaceuticals
Gout
Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome
This study is being done to evaluate whether the medication, febuxostat, can improve the degree of insulin resistance and other features of the metabolic syndrome (high blood pressure, elevated insulin levels, excess body fat…
- Trial name
- NCT01654276
- Testing
- Febuxostat
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- University of Texas Southwestern Medical Center
Friedreich's Ataxia
A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients
The purpose of this trial is to study the efficacy, safety and tolerability of idebenone in 12 months of treatment in children and adults with Friedreich's Ataxia.
- Trial name
- MICONOS (NCT00905268)
- Testing
- idebenone
- Where
- 13 sites in Austria, Belgium and 4 more
- Volunteers
- 232 people
- Sponsor
- Santhera Pharmaceuticals
Sanfilippo Syndrome Type A
A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including…
- Trial name
- NCT01047306
- Testing
- assessment
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Shire
Iron Overload After Hematopoietic Stem Cell Transplantation (HSCT) in Patients With Beta-thalassemia Major
Post Hematopoietic Stem Cell Transplantation
This was a prospective, single-arm, multicenter, national, phase II clinical study. The purpose of this Phase II study was to examine the safety and efficacy of deferasirox to decrease iron overload (IOL) in the posttransplant…
- Trial name
- NCT01610297
- Testing
- ICL670
- Where
- 6 sites in Turkey (Türkiye)
- Volunteers
- 27 people
- Sponsor
- Novartis Pharmaceuticals
Mucopolysaccharidosis III, Type B (MPS IIIB), Sanfilippo B
A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously
This study evaluated the safety and tolerability of intravenous (IV) administration of SBC-103 in previously studied, SBC-103 treatment naïve patients with mucopolysaccharidosis III, type B (MPS IIIB, Sanfilippo B) who…
- Trial name
- CL01-T (NCT02618512)
- Testing
- SBC-103
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Gaucher Disease
Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease
Gaucher disease is an inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCB) that leads to progressive accumulation of glucocerebroside within macrophages and subsequent tissue and organ damage; typically of the…
- Trial name
- NCT01614574
- Testing
- velaglucerase alfa
- Where
- 3 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Shire
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Gout
Gout in the ED and Improving Research Participation
The prevalence of gout has been steadily increasing over several decades and is correlated with the rising burden of obesity, chronic cardiac and renal disease; all conditions overrepresented in the Southeastern U.S.
- Trial name
- NCT04075903
- Testing
- Storytelling
- Where
- 4 sites in United States
- Volunteers
- 200 people
- Sponsor
- University of Alabama at Birmingham
Gout, Hyperuricemia
The Diet Gout Trial
Unhealthy diet has long been associated with high uric acid levels and gout. The DASH diet may lower uric acid levels. This study will examine the effects of the DASH diet on uric acid in adults with a history of gout.
- Trial name
- DIGO (NCT03569020)
- Testing
- Subsidy for food purchases and dietitian education
- Where
- 2 sites in United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Lipid Metabolism, Inborn Errors, Hyperlipidemias
Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
This study will assess what, if any, effect that ISIS 301012 (mipomersen) has on liver triglyceride content in multiple groups of subjects with varying degrees of risk for hepatic steatosis.
- Conditions
- Lipid Metabolism, Inborn Errors, Hyperlipidemias, Metabolic Diseases, Hypolipoproteinemia
- Trial name
- NCT00362180
- Testing
- mipomersen
- Where
- Netherlands
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Kastle Therapeutics, LLC
Wilson Disease
Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants.
This was a Phase 1, randomized, 2-period, 2-sequence, cross-over study designed to determine the effect of ALXN1840 on the metabolism of celecoxib, a sensitive cytochrome P450 2C9 (CYP2C9) substrate, in healthy male and female…
- Trial name
- NCT04526197
- Testing
- ALXN1840, Celecoxib
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Alexion Pharmaceuticals, Inc.
Fabry Disease
A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta
This is an exploratory study to evaluate changes in glycosphingolipid levels and other (exploratory) Fabry disease parameters in male Fabry disease participants who were previously treated with agalsidase alfa (Replagal®) 0.2…
- Trial name
- NCT01650779
- Testing
- Agalsidase beta
- Where
- 6 sites in United States
- Volunteers
- 15 people
- Sponsor
- Genzyme, a Sanofi Company
Gout, Moderate Renal Impairment
Efficacy and Safety of Extended Release and Immediate Release Febuxostat in Participants With Gout and Moderate Renal Impairment
The purpose of this study is to evaluate the efficacy and safety of febuxostat 40 mg extended release (XR) and 80 mg XR in comparison with febuxostat 40 mg immediate release (IR) and 80 mg IR, respectively, in gout participants…
- Trial name
- NCT02128490
- Testing
- Febuxostat IR, Febuxostat XR, Colchicine
- Where
- 89 sites in United States
- Volunteers
- 189 people
- Sponsor
- Takeda
Wilson Disease
Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
This study is being conducted to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics of ALXN1840 versus standard of care in pediatric participants with Wilson disease (WD).
- Trial name
- NCT05047523
- Testing
- ALXN1840, Standard of Care
- Where
- 20 sites in Australia, France and 5 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Skin Laxity, Lipodystrophy
The PREFORM Study: Rotational Fractional Resection for Submental Contouring
This study will evaluate the safety and efficacy of rotational fractional resection (RFR) to improve neck contouring. Rotational fractional resection is used to remove loose skin and fat.
- Trial name
- NCT03966924
- Testing
- Rotational fractional resection (1.5mm Diameter Device)
- Where
- United States
- Volunteers
- 2 people, healthy volunteers welcome
- Sponsor
- Recros Medica, Inc.