Clinical trials: Inborn Errors of Metabolism
Lactose Intolerance
Effect of a Combination of Lactase and L. Salivarius DSM 34078 in Individuals With Lactose Intolerance
The goal of this clinical trial is to test whether a new combination of lactase and bacterial strain (L. Salivarius DSM 34078) can provide longer lasting beneficial effects on lactose digestion and gastrointestinal symptoms…
- Trial name
- NCT06107088
- Testing
- Active 1, Active 2, Active 3
- Where
- Germany
- Volunteers
- 76 people
- Sponsor
- Novozymes A/S
Gout
Safety and Pharmacodynamics of SEL-037 (Pegsiticase) in Subjects With Elevated Blood Uric Acid Levels
This Study will evaluate the safety, pharmacokinetics, pharmacodynamics and immunogenicity of a single intravenous infusion of SEL-037 (pegsiticase), a pegylated uricase, in subjects with elevated blood uric acid levels.
- Trial name
- NCT02464605
- Testing
- SEL-037 (pegsiticase)
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Selecta Biosciences, Inc.
Crigler-Najjar Syndrome
Gene Transfer Clinical Study in Crigler-Najjar Syndrome
This is a Phase 1/2, multinational, open-label, ascending-dose, delayed-treatment concurrent control clinical study to evaluate the safety and preliminary efficacy of AT342 in subjects with Crigler-Najjar aged ≥1 year.
- Trial name
- VALENS (NCT03223194)
- Testing
- AT342
- Where
- 4 sites in United States, Israel and 1 more
- Volunteers
- 1 people
- Sponsor
- Audentes Therapeutics
Morquio Syndrome, Accumulation of Mucopolysaccharides
Biomarker for Morquio Disease (BioMorquio)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma
- Conditions
- Morquio Syndrome, Accumulation of Mucopolysaccharides, Morquio Syndrome A, Morquio B Disease
- Trial name
- BioMorquio (NCT01457456)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Hereditary Tyrosinemia, Type I
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
- Trial name
- NCT06227429
- Testing
- Nitisinone
- Where
- 4 sites in China
- Sponsor
- Swedish Orphan Biovitrum
Lipodystrophy, Generalized Lipodystrophy (GLD)
Compassionate Use or Expanded Access of Mibavademab
Provide Expanded Access to REGN4461 for patients with diseases associated with deficient leptin signaling.
- Conditions
- Lipodystrophy, Generalized Lipodystrophy (GLD), Monogenic Obesity (MOB)
- Trial name
- NCT04710056
- Testing
- REGN4461
- Sponsor
- Regeneron Pharmaceuticals
Familial Hypercholesterolemia
A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication
This study is designed to assess whether colesevelam given as third line treatment added to a maximal tolerated and stable dose of a statin and ezetimibe is able to further decrease the level of LDL cholesterol in a safe and…
- Trial name
- NCT00655265
- Testing
- Colesevelam hydrochloride film-coated tablets
- Where
- 8 sites in France, Germany and 3 more
- Volunteers
- 86 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols…
- Trial name
- NCT01411228
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 15 people
- Sponsor
- Pfizer
Severe Familial Hypercholesterolemia
Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders
A study to assess the long term safety and tolerability of evolocumab (AMG 145) in adolescents and adults with severe familial hypercholesterolemia.
- Trial name
- TAUSSIG (NCT01624142)
- Testing
- Evolocumab
- Where
- 44 sites in United States, Australia and 16 more
- Volunteers
- 300 people
- Sponsor
- Amgen
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
To describe severe late onset patients with pompe disease receiving Myozyme®
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00731081
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.
- Trial name
- KAMPER (NCT01016392)
- Where
- 69 sites in Austria, France and 7 more
- Volunteers
- 627 people
- Sponsor
- BioMarin Pharmaceutical
Healthy
Comparison of KADIAN 100 mg When Dosed With Alcohol Under Fasting and Fed Conditions Compared to Water
The objective of this study was to compare the single-dose relative bioavailability of Alpharma Branded Products Division Inc. (KADIAN) 100 mg morphine sulfate extended-release capsules when dosed with alcohol under fasting and…
- Trial name
- NCT00768183
- Testing
- KADIAN Capsule + alcohol (under fasting conditions), KADIAN Capsule + water (under fasting conditions), morphine sulfate IR oral solution + water
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Actavis Inc.
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
Cardiac Amyloidosis
PATHWAY-RCT: Preventing Admission To Hospital With Attr cardiomyopathY
Cardiac amyloidosis is a condition where the heart muscle, amongst other tissues, is infiltrated by the abnormal build-up of proteins called amyloid.
- Trial name
- PATHWAY-RCT (NCT05098665)
- Testing
- Telemonitoring service
- Where
- United Kingdom
- Volunteers
- 320 people
- Sponsor
- Richmond Research Institute
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.
Primary Hyperoxaluria
Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1
The purpose of this study is to provide expanded access to lumasiran for adults and pediatric patients with Primary Hyperoxaluria Type 1 (PH1),
- Trial name
- NCT04125472
- Testing
- Lumasiran
- Sponsor
- Alnylam Pharmaceuticals
Hyperuricemia
ALLN-346 Single Ascending Dose (SAD) Study in Healthy Volunteers
The purpose of this study is to evaluate the safety of ALLN-346 in healthy volunteers, in this first in human, single ascending dose study. ALLN-346 is an enzyme that degrades urate in the gastrointestinal tract.
- Trial name
- SAD (NCT04236219)
- Testing
- ALLN-346
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Allena Pharmaceuticals
Primary Hyperoxaluria
Phase 2/3 Oxabact Study
The purpose of this study is to determine if Oxalobacter formigenes is effective at lowering urinary oxalate levels in patients with primary hyperoxaluria.
- Trial name
- NCT01037231
- Testing
- Oxalobacter formigenes
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- OxThera
Hypophosphatasia
Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)
This Clinical Trial is being conducted to study Hypophosphatasia (HPP), a bone disorder caused by gene mutations or changes. These gene mutations cause low levels of an enzyme needed to harden bone.
- Trial name
- NCT00894075
- Testing
- ENB-0040
- Sponsor
- Alexion Pharmaceuticals, Inc.
MPS IIIA, Sanfilippo Syndrome
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
Open-label, clinical trial of scAAV9.U1a.hSGSH injected intravenously through a peripheral limb vein
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT04088734
- Testing
- ABO-102
- Where
- 3 sites in United States, Australia and 1 more
- Volunteers
- 5 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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