Clinical trials: Metabolism, Inborn Errors
Methylmalonic Acidemia
A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
This is a study of mRNA-3705 in participants with isolated elevated methylmalonic acid (MMA) due to methylmalonyl-coenzyme A (CoA) mutase (MUT) deficiency.
- Trial name
- NCT04899310
- Testing
- mRNA-3705
- Where
- 11 sites in United States, Canada and 4 more
- Volunteers
- 18 people
- Sponsor
- ModernaTX, Inc.
X-linked Hypophosphatemic Rickets/Osteomalacia
A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
Before switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 administered subcutaneously once every 2 weeks in children with X-linked hypophosphatemic rickets/osteomalacia(XLH).
- Trial name
- NCT03233126
- Testing
- KRN23
- Where
- 4 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Mortality, Hyperhomocysteinemia
5-methyltetrahydrofolate Survival and Inflammation in ESRD Patients
A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked.
- Conditions
- Mortality, Hyperhomocysteinemia, Inflammation
- Trial name
- NCT00626223
- Testing
- 5-MTHF (5-methyltetrahydrofolate), folic acid
- Where
- Italy
- Volunteers
- 341 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Infantile GM2 Gangliosidosis (Disorder)
First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
GM2 gangliosidoses are a group of autosomal recessive neurodegenerative diseases characterized by a deficiency of the Hex A enzyme to catabolize GM2, thereby causing GM2 accumulation within cellular lysosomes.Hex A is composed of…
- Trial name
- NCT04798235
- Testing
- TSHA-101
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Dr. Anupam Sehgal
Functional Gastrointestinal Disorders
Effect of Controlled Diet Combined With a Fermented Milk Product on Gas-related Symptoms
To select among different dietary and clinical conditions the most appropriate to assess the impact of a fermented milk product on gas-related symptoms
- Trial name
- FLATBACK (NCT02936713)
- Testing
- Fermented milk product with probiotics (FMPP)
- Where
- Spain
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Danone Global Research & Innovation Center
Glycogen Storage Disease Type II
A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00059280
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care…
- Trial name
- NCT06192576
- Testing
- Olipudase alfa
- Where
- 6 sites in United States
- Volunteers
- 10 people
- Sponsor
- Sanofi
Transthyretin Amyloidosis, Amyloidosis, Hereditary
Myocardial Effects in Patients With ATTRv With Polyneuropathy Treated With Patisiran or Vutrisiran
ATTRv amyloidosis is a systemic disease with two clinical forms, neurological and cardiological, which are sometimes combined (so-called mixed forms).
- Trial name
- MyocardON-TTR (NCT05873868)
- Testing
- Six minutes walk test, Kansas City questionnaire, COMPASS31 self questionnaire
- Where
- 5 sites in France
- Volunteers
- 20 people
- Sponsor
- Rennes University Hospital
PET/CT, Solid Tumors, Adult
Granzyme B-targeted PET Imaging Monitoring Tumor Responses to Immunotherapy
Malignant solid tumors, characterized by their persistently high incidence and mortality rates, pose a significant threat to human health and life, imposing a substantial societal burden.
- Conditions
- PET/CT, Solid Tumors, Adult, Solid Tumors, Advanced Solid Tumors
- Trial name
- GZMB_PET (NCT06916442)
- Testing
- PET/CT Imaging with GZMB-targeted tracer
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Zhongnan Hospital
Fabry Disease
Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the safety, pharmacokinetics (PK), pharmacodynamics (PD), and exploratory efficacy of GZ/SAR402671 in enzyme replacement therapy treatment-naïve adult male participants diagnosed with Fabry disease.
- Trial name
- NCT02228460
- Testing
- GZ/SAR402671
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 11 people
- Sponsor
- Genzyme, a Sanofi Company
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
Familial Hypercholesterolemia
Russian Familial Hypercholesterolemia Registry
True prevalence of FH in the Russian Federation is unknown which leads to low percentage of diagnosed and treated cases. Research is needed to determine the prevalence of FH, specific diagnostic algorithms and optimal treatment…
- Trial name
- RuFH (NCT02208869)
- Where
- 5 sites in Russia
- Volunteers
- 1,000 people
- Sponsor
- Russian Cardiology Research and Production Center
Gout; Hyperuricemia
Multiple Dose Study of SHR4640 in Healthy Subjects
The objective of the study is to assess the tolerance, pharmacokinetic and pharmacodynamic properties of multiple dose adminstration of SHR4640 in healthy volunteers.
- Trial name
- NCT02890966
- Testing
- SHR4640
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Hyperuricemia or Gout
Clinical Efficacy Trial of Burdock Root Extract in Patients With Asymptomatic Hyperuricaemia
Multicentre, double-blind, randomized, placebo-controlled trial of the clinical efficacy of burdock root extract in patients with asymptomatic hyperuricemia, with the primary objective to assess the efficacy of the use of burdock…
- Trial name
- NCT07002762
- Testing
- Burdock ( Arctium lappa L.) root extract in a form of a nutritional additive
- Where
- Ukraine
- Volunteers
- 100 people
- Sponsor
- OMNIFARMA LLC
Fabry Disease
Real World Evidence Study of Danish Fabry Patients
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely…
- Trial name
- RWE-FABRY (NCT06303466)
- Where
- Denmark
- Volunteers
- 115 people
- Sponsor
- Caroline Michaela Kistorp
Phenylketonuria
A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria
This is a single group Phase 1/Phase 2, 1-arm, open-label study with SAR444836, an adeno-associated virus (AAV) vector-mediated gene transfer of human phenylalanine hydroxylase (PAH), for the treatment of adult participants with…
- Trial name
- NCT05972629
- Testing
- SAR444836
- Where
- 11 sites in United States, Argentina and 3 more
- Volunteers
- 32 people
- Sponsor
- Sanofi
Cytomegalovirus Retinitis, HIV Infections
A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy
AMENDED: 04-12-91 Population of patients changed FROM those who are intolerant of systemic therapy with NON-sight-threatening CMV retinitis TO those AIDS patients intolerant of systemic therapy with CMV retinitis.
- Trial name
- NCT00000673
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 38 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Glycogen Storage Disease Type I
Diazoxide in the Treatment of Type 1 Glycogenosis
In children with a glycogen storage disorder, one of the enzymes needed to convert glucose into glycogen, or to break down glycogen into glucose, is missing.
- Trial name
- NCT07739394
- Volunteers
- 15 people
- Sponsor
- Central Hospital, Nancy, France
Gaucher Disease
A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy
The study will provide information on outcomes in people with type 1 Gaucher disease when they are treated with velaglucarase alfa (also called VPRIV), under standard care.
- Trial name
- SWITCH (NCT04718779)
- Testing
- Digital Engagement Application (GD App), No Intervention
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Takeda
Glycogen Storage Disease Type I, Glucose 6 Phosphatase Deficiency
Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 Deficiency
Treatment of neutropenia of G6PC3 and Glycogenosis type 1b patients with empagliflozin
- Trial name
- GLYCO-1B (NCT04138251)
- Testing
- Empagliflozin
- Where
- Belgium
- Volunteers
- 5 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
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