Clinical trials: Inborn Errors of Metabolism Disorders
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
X-linked Hypophosphatemia, Tumor-Induced Osteomalacia
Expanded Access to Burosumab
Individual patient expanded access requests may be considered for patients who have no other treatment options
- Trial name
- NCT03775187
- Testing
- Burosumab
- Sponsor
- Kyowa Kirin Co., Ltd.
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.
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.
X-Linked Adrenoleukodystrophy
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
This is a non-interventional, multi-center study that follows general principles of periodic assessment of X-ALD patients in routine practice.
- Trial name
- NCT03278899
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- NeuroVia, Inc.
Sphingomyelin Lipidosis
Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)
The objective of this program is to provide access to enzyme replacement therapy (ERT) with olipudase alfa for certain patients with ASMD, a severe, life threatening disease, that could not participate in the olipudase clinical…
- Trial name
- NCT04877132
- Testing
- olipudase alfa (GZ402665)
- Sponsor
- Sanofi
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
Generalized Lipodystrophy
A Study of the Safety of Mibavademab in Pediatric and Adult Participants Switching From Metreleptin to Mibavademab for the Treatment of Generalized Lipodystrophy (GLD)
This study is researching an experimental drug called mibavademab. The study is focused on participants with GLD who have been on metreleptin treatment for at least 6 months with no change in dose for the last 3 months.
- Trial name
- NCT06548100
- Testing
- mibavademab
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Regeneron Pharmaceuticals
Arginase I Deficiency, Hyperargininemia
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102.
- Trial name
- NCT02488044
- Testing
- AEB1102
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Aeglea Biotherapeutics
Fabry Disease
Fabry Outcome Survey (FOS)
The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease.
- Trial name
- FOS (NCT03289065)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Shire
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Metabolic Disorder; Carbohydrate, Absorption, Intestine
Determination of the Postprandial Responses to Two Cereal Foods Differing by Their SDS Content Consumed Alone.
This study aimed at determining the 4-hours postprandial blood glucose and insulin responses to the ingestion of cereal product differing by their SDS content.
- Trial name
- NCT02538653
- Testing
- Sandwich biscuit high in SDS, Co-extruded cereal low in SDS
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Mondelēz International, Inc.
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