Clinical trials: Inherited Disorders of Metabolism
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
Gout
Open-Label Lesinurad Monotherapy Extension Study in Gout
This study will assess the serum uric acid lowering effects and safety of lesinurad over a long-term timeframe.
- Trial name
- NCT01650246
- Testing
- lesinurad
- Where
- 75 sites in United States, Australia and 5 more
- Volunteers
- 143 people
- Sponsor
- Ardea Biosciences, Inc.
Gout and Asymptomatic Hyperuricemia
A PD/Safety Study of RDEA3170 in Combination With Febuxostat for Treating Gout or Asymptomatic Hyperuricemia Patients
The purpose of this study is to explore the pharmacodynamics (PD), pharmacokinetics (PK), safety, and tolerability of multiple doses of RDEA3170 administered in combination with febuxostat compared to RDEA3170 administered alone…
- Trial name
- NCT02317861
- Testing
- RDEA3170, Febuxostat, Benzbromarone
- Where
- Japan
- Volunteers
- 110 people
- Sponsor
- AstraZeneca
Cytomegalovirus Infections, HIV Infections
A Multiple Dose Crossover Pharmacokinetics Study to Evaluate the Effects of Food on the Absorption of Oral Ganciclovir
This study is designed to determine the influence of food on the absorption and relative bioavailability of oral ganciclovir by comparing the absorption of oral ganciclovir in a fed and fasting state at steady state plasma levels.
- Trial name
- NCT00002251
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Hoffmann-La Roche
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
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
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
Glycogen Storage Disease Type IA
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose…
- Trial name
- NCT05139316
- Testing
- DTX401, Oral prednisolone
- Where
- 20 sites in United States, Brazil and 7 more
- Volunteers
- 52 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hypertriglyceridemia, Hyperlipoproteinemia Type IV
Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients
The primary purpose of this trial is to determine if the treatment with rosuvastatin 10 and 20mg/day during 8 weeks in hypertriglyceridemic patients will reduce their triglyceride levels.
- Conditions
- Hypertriglyceridemia, Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V, Hyperlipoproteinemia Type IIb
- Trial name
- NCT00473655
- Testing
- rosuvastatin
- Where
- 3 sites in Mexico
- Volunteers
- 334 people
- Sponsor
- AstraZeneca
Familial Partial Lipodystrophy
The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy
The purpose of this study is to evaluate the efficacy and safety of volanesorsen given for 52 weeks in a randomized treatment (RT) period in participants with familial partial lipodystrophy (FPL).
- Trial name
- NCT02527343
- Testing
- volanesorsen
- Where
- 12 sites in United States, Belgium and 5 more
- Volunteers
- 40 people
- Sponsor
- Akcea Therapeutics
Wilsons Disease
A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)
This study adopted an open, single-arm, non-randomized, dose-escalation research design, aiming to evaluate the safety, tolerability, preliminary efficacy, pharmacokinetic and immunogenicity characteristics of single and multiple…
- Trial name
- NCT07240896
- Testing
- Group 1: DSL101 Low dose, Group 2: DSL101 Medium dose, Group 3: DSL101 High dose
- Where
- China
- Volunteers
- 18 people
- Sponsor
- DSciLab Co., Ltd.
Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Evaluation of the Efficacy and Safety of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia and Statin Intolerant
The purpose of this study is to determine if bempedoic acid (ETC-1002) is effective and safe versus placebo in patients with elevated LDL cholesterol and who are statin-intolerant.
- Conditions
- Hypercholesterolemia, Atherosclerotic Cardiovascular Disease, Statin Adverse Reaction
- Trial name
- CLEAR Serenity (NCT02988115)
- Testing
- bempedoic acid
- Where
- 67 sites in United States, Canada
- Volunteers
- 345 people
- Sponsor
- Esperion Therapeutics, Inc.
Friedreich Ataxia
Single Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia
To evaluate the safety and tolerability of single ascending doses of CTI-1601 in participants with Friedreich's ataxia
- Trial name
- NCT04176991
- Testing
- CTI-1601
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Larimar Therapeutics, Inc.
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of atumelnant (CRN04894).
- Trial name
- CALM2-CAH (NCT06712823)
- Testing
- atumelnant (CRN04894)
- Where
- 13 sites in United States, Argentina and 4 more
- Volunteers
- 200 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonuria
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).
- Trial name
- NCT07241234
- Testing
- AG-181
- Where
- 5 sites in United States, Poland
- Volunteers
- 20 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Cytomegalovirus Infections, HIV Infections
A Phase I Pharmacokinetic Study in HIV-Positive Subjects of Oral Ganciclovir and Concomitant Antiretroviral Zidovudine and Didanosine
To determine whether there is a pharmacokinetic drug interaction between oral ganciclovir and oral zidovudine (AZT) and between oral ganciclovir and oral didanosine (ddI).
- Trial name
- NCT00002096
- Testing
- Zidovudine, Didanosine, Ganciclovir
- Where
- 3 sites in United States
- Volunteers
- 24 people
- Sponsor
- Hoffmann-La Roche
Fabry Disease
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
Study to compare the efficacy and safety of migalastat and enzyme replacement therapy (ERT) in male and female participants with Fabry disease who are currently receiving ERT and who have an alpha galactosidase-A (α Gal-A)…
- Trial name
- NCT01218659
- Testing
- migalastat hydrochloride, agalsidase
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 68 people
- Sponsor
- Amicus Therapeutics