Clinical trials: Metabolic Abnormalities
Alpha-Mannosidosis
Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis
The overall objective is to evaluate the long-term efficacy, safety and tolerability of repeated Lamazym i.v. treatment in patients 5-21 years of age with alpha-Mannosidosis
- Trial name
- NCT01681940
- Testing
- Lamazym
- Where
- 4 sites in Belgium, Denmark and 2 more
- Volunteers
- 10 people
- Sponsor
- Zymenex A/S
Fabry Disease
Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease
The goal of this observational study is to learn how enzyme replacement therapy works in patients with Fabry disease. The main question it aims to answer is: What medical problems do participants have? Participants already on…
- Trial name
- FAVORIT (NCT06880250)
- Where
- 23 sites in Russia
- Volunteers
- 100 people
- Sponsor
- NPO Petrovax
Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy (BioTRAP)
International, multicenter, observational, longitudinal study to identify biomarker/s for the development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic…
- Conditions
- Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin Amyloid Cardiopathy
- Trial name
- BioTRAP (NCT02713880)
- Where
- 2 sites in Germany, India
- Sponsor
- CENTOGENE GmbH Rostock
Hypercholesterolemia, Familial, Heterozygous Familial Hypercholesterolemia
A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
The purpose of this study is to determine the pharmacokinetics of laropiprant following administration of a single dose of 1 (Panel A) and 2 (Panel B) combination tablets of MK-0524A in adolescents with heterozygous familial…
- Trial name
- NCT01583647
- Testing
- MK-0524A
- Volunteers
- 10 people
- Sponsor
- Merck Sharp & Dohme LLC
Familial Hypercholesterolemia
Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients
This study will evaluate the effect of APL180 on endothelial function measured by forearm venous occlusion plethysmography in patients with familial hypercholesterolemia.
- Trial name
- NCT00751608
- Testing
- APL180
- Sponsor
- Novartis Pharmaceuticals
Primary Hypercholesterolemia or Mixed Hyperlipidemia
QLC7401 in the Treatment of Primary Hypercholesterolemia or Mixed Hyperlipidemia With Elevated Low Density Lipoprotein Cholesterol (LDL-C)
To evaluate the efficacy, safety and immunogenicity of QCL7401 subcutaneous administration in patients with primary hypercholesterolemia or mixed hyperlipidemia with poorly controlled LDL-C elevated on optimized lipid-lowering…
- Trial name
- NCT07441317
- Testing
- QLC7401
- Volunteers
- 780 people
- Sponsor
- Qilu Pharmaceutical Co., Ltd.
Menkes Disease
Copper Histidinate Treatment for Menkes Disease
This expanded access protocol provides subcutaneous copper histidinate for Menkes disease patients under 6 years of age.
- Trial name
- NCT04074512
- Testing
- copper histidinate
- Where
- 20 sites in United States
- Sponsor
- Sentynl Therapeutics, Inc.
Amyloid Cardiomyopathy, Transthyretin-Related
Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10
This is a single center, prospective, randomized, placebo-controlled study of AG10 in healthy adult subjects
- Trial name
- NCT03294707
- Testing
- AG10 oral tablet
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Eidos Therapeutics, a BridgeBio company
X-linked Hypophosphatemic Rickets/Osteomalacia
A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
The objective of this study is to assess the safety and tolerability of KRN23 after a single subcutaneous (SC) administration in subjects with X-linked hypophosphatemic rickets/osteomalacia (XLH) in Japan or Korea.
- Trial name
- NCT02181764
- Testing
- KRN23
- Where
- 2 sites in Japan, South Korea
- Volunteers
- 15 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Gout, Gouty Arthritis
Evaluation of Efficacy and Safety of AR882 and XOI Co-administration in Uricase Treatment Failed Patients
This study will assess the effect of AR882 and XOI co-administration on sUA lowering as well as reducing tophus burden in the population that has failed uricase treatment (eg., pegloticase).
- Conditions
- Gout, Gouty Arthritis, Hyperuricemia, Gout Chronic
- Trial name
- NCT07116746
- Testing
- AR882 75 mg, XOI Low Dose, XOI High Dose
- Where
- 8 sites in United States
- Volunteers
- 15 people
- Sponsor
- Arthrosi Therapeutics
Hypercholesterolemia, Familial
Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
The Torcetrapib project was terminated on December 2, 2006 due to safety findings. To evaluate the efficacy and safety of the lipid drug Torcetrapib/atorvastatin in patients with genetically known disorder of extremely high…
- Trial name
- NCT00134511
- Testing
- Torcetrapib/atorvastatin
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 30 people
- Sponsor
- Pfizer
Osteoporosis
Efficacy Study of Zoledronic Acid and Teriparatide Combination Therapy in Women With Osteoporosis
The purpose of this study is to assess the effects of zoledronic acid administered at the same time with teriparatide compared to zoledronic acid alone and teriparatide alone on bone mineral density (BMD) gain in the lumbar spine…
- Trial name
- NCT00439244
- Testing
- Zoledronic acid, Teriparatide
- Where
- 33 sites in United States, Belgium and 2 more
- Volunteers
- 412 people
- Sponsor
- Novartis
Niemann-Pick Disease, Niemann-Pick Disease, Type C
Biomarker for Niemann Pick Type C Disease (BioNPC)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Niemann Pick Type C disease from Blood (plasma)
- Trial name
- BioNPC (NCT01306604)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Inborn Errors of Metabolism
EasiVits Acceptability & Tolerance Study
In order to achieve metabolic stability, dietary treatment of inborn errors of metabolism (IEM) may require restriction of protein (e.g.
- Trial name
- EVATS (NCT07619170)
- Testing
- UNO EasiVits, DUO EasiVits
- Where
- United Kingdom
- Volunteers
- 30 people
- Sponsor
- NeoteriQ Ltd.
Cytomegalovirus Retinitis, HIV Infections
A Randomized Comparison of Intravitreal ISIS 2922 Plus Ganciclovir Versus Ganciclovir as Treatment for Patients With Cytomegalovirus Retinitis ( CMVR )
To determine the clinically safe and effective dose of intravitreal ISIS 2922 alone and as an additive antiviral therapy to ganciclovir in AIDS patients with cytomegalovirus (CMV) retinitis.
- Trial name
- NCT00002156
- Testing
- Fomivirsen sodium, Ganciclovir
- Where
- 18 sites in United States
- Volunteers
- 194 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Ataxia Telangiectasia
Evaluate the Neurological Effects of EryDex on Subjects With A-T
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes)…
- Trial name
- NEAT (NCT06193200)
- Testing
- Dexamethasone sodium phosphate
- Where
- 19 sites in United States, Denmark and 7 more
- Volunteers
- 105 people
- Sponsor
- Quince Therapeutics S.p.A.
Lactose Intolerance
Efficacy, Safety, and Tolerability Study of RP-G28 in Subjects With Lactose Intolerance
RP-G28 is being investigated for treatment of moderate to severe lactose intolerance and its potential to improve the tolerance of lactose (dairy products).
- Trial name
- NCT02673749
- Testing
- RP-G28
- Where
- United States
- Volunteers
- 377 people
- Sponsor
- Ritter Pharmaceuticals, Inc.
Healthy Participants
A First-in-Human, Single- and Multiple-Ascending Dose Study of YH35995 in Healthy Adult Male Participants
This is a randomized, double-blind, first-in-human study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple oral doses of YH35995
- Trial name
- NCT06517914
- Testing
- YH35995
- Where
- South Korea
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Yuhan Corporation
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
Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome
A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
- Trial name
- NCT00299000
- Testing
- Naglazyme
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 4 people
- Sponsor
- BioMarin Pharmaceutical