Clinical trials: Metabolism, Inborn Errors
Congenital Adrenal Hyperplasia, Hyperplasia
Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
This is an open-label, non-randomized, single arm proof-of concept feasibility trial comparing standard oral hydrocortisone (HC) treatment with a six-week intervention of interval bolus delivery (pulsatile) of subcutaneous (SQ)…
- Conditions
- Congenital Adrenal Hyperplasia, Hyperplasia, Adrenal Hyperplasia, Congenital Disorders
- Trial name
- NCT03718234
- Testing
- Subcutaneous hydrocortisone
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Minnesota
Gout
Study of the Safety and Effectiveness of Rilonacept for the Prevention of Gout Flares
This was a clinical research study to determine the safety and effectiveness of an experimental drug called rilonacept in participants with gout who were beginning another additional treatment.
- Trial name
- NCT00610363
- Testing
- Rilonacept
- Where
- 34 sites in United States
- Volunteers
- 83 people
- Sponsor
- Regeneron Pharmaceuticals
Urea Cycle Disorders, Inborn, Other Metabolic Diseases
Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Montmorillonite (MONT) is a phyllosilicate layered mineral with unique physicochemical properties, such as swelling and cation exchange capability.
- Trial name
- NCT02124330
- Testing
- montmorillonite 5 g, montmorillonite 3 g, Montmorillonite 1 g
- Where
- Italy
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Luca Ronfani
Fabry Disease
Open-Label Phase 3 Long-Term Safety Study of Migalastat
This was a long-term, open-label study of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) in participants with Fabry disease who completed treatment in a previous…
- Trial name
- AT1001-041 (NCT01458119)
- Testing
- migalastat hydrochloride
- Where
- 25 sites in United States, Argentina and 11 more
- Volunteers
- 85 people
- Sponsor
- Amicus Therapeutics
Hypercholesterolemia, Familial
Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
To test the hypothesis that in patients with a clinical diagnosis of familial hypercholesterolemia (FH), genetic testing and identification of a causative mutation might enhance the success of family-based cascade screening.
- Trial name
- IFIGhTFH (NCT04526457)
- Testing
- Standard of Care, Genetic Testing
- Volunteers
- 240 people
- Sponsor
- University of Pennsylvania
Gastric Bypass, Blind Loop Syndrome
Small Intestinal Bacterial Overgrowth Obese
The objective of this research is to determine the incidence of microbial overgrowth of the small intestine before and after a gastric bypass.
- Conditions
- Gastric Bypass, Blind Loop Syndrome, Bacterial Overgrowth Syndrome, Chromatography, Gas
- Trial name
- SIBOB (NCT02819037)
- Testing
- gas chromatography, Stool analysis for detection of malabsorption
- Where
- 2 sites in France
- Volunteers
- 51 people
- Sponsor
- Lille Catholic University
Psychiatric Problem, Wolman Disease
Prevalence and Risk Factors of Women Mental Health Disorders
Perinatal major depressive disorder affects 20% of women, while perinatal anxiety affects 10% of women. Although pharmacological treatment has shown effectiveness, many pregnant women are concerned about potential adverse effects…
- Trial name
- NCT04792671
- Testing
- Sociodemographic variables, Family affluence scale (FAS), Edinburgh postnatal depression scale (EPDS)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assiut University
Mucopolysaccharidosis Type III A, Sanfilippo Disease Type A
Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
P2-SAF-301 is an open-label interventional study without administration of investigational product, evaluating the long-term safety and tolerability of intracerebral SAF-301 previously administered to 4 patients with Sanfilippo…
- Trial name
- NCT02053064
- Testing
- SAF-301
- Where
- France
- Volunteers
- 4 people
- Sponsor
- LYSOGENE
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.
Primary Objective: To evaluate the safety and tolerability of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
- Trial name
- NCT01898364
- Testing
- GZ402666
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 24 people
- Sponsor
- Genzyme, a Sanofi Company
Hypophosphatasia
Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)
This observational study will evaluate the treatment effect of Strensiq (asfotase alfa) on Patient Reported Outcomes (PROs) in participants diagnosed with pediatric-onset hypophosphatasia (HPP) registered in the patient support…
- Trial name
- NCT04195763
- Testing
- asfotase alfa
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Phenylketonurias
Safety and Efficacy Study of NGGT002 in PKU Adult Subjects
This is a single-center, open-label, non-randomized, dose escalation study to evaluate the safety, tolerability and efficacy of NGGT002 in adult Phenylketonuria (PKU) subjects.
- Trial name
- NCT06061614
- Testing
- NGGT002 Injection
- Where
- China
- Volunteers
- 15 people
- Sponsor
- The First Affiliated Hospital of Bengbu Medical University
Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1
Genetic Testing and Motivational Counseling for FH
To date, there are highly effective lipid-lowering drugs, the combination of which makes it possible to achieve the target level of LDL-C in most patients with familial hypercholesterolemia (FH).
- Conditions
- Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2, Hypercholesterolemia, Familial, 3
- Trial name
- GENMOTIV-FH (NCT04656028)
- Testing
- Genetic Testing, Motivational Counseling, Lipid analysis
- Where
- Russia
- Volunteers
- 180 people
- Sponsor
- National Medical Research Center for Therapy and Preventive Medicine
Hypophosphatasia
Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan
This is a multicenter study in Japan. Eleven sites which have already participated in the investigator-initiated clinical study (Early Access Program) will participate in this study.The objective of this study is to gain further…
- Trial name
- NCT02531867
- Testing
- Asfotase Alfa
- Volunteers
- 13 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Metachromatic Leukodystrophy, Adrenoleukodystrophy
Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Evaluating the safety and efficacy of Lentiviral Hematopoietic Stem Cell Gene Therapy for advanced stage of Metachromatic Leukodystrophy and adrenoleukodystrophy.
- Trial name
- NCT02559830
- Testing
- transduced CD34+ hematopoietic stem cell
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shenzhen Second People's Hospital
Healthy
Bioequivalence Study of Etodolac Capsules USP 300 mg Under Fed Condition
This is a open Label, balanced, randomized, single dose, two-treatment, two-sequence, two-period, crossover pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01749228
- Testing
- Etodolac Capsules USP 300 mg, Etodolac
- Where
- India
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Primary Hypercholesterolemia, Mixed Hyperlipidemia
A Study to Evaluate the Effects of Laropiprant on the Antiplatelet Effects of Clopidogrel and Aspirin in Combination (MK-0524A-114)(COMPLETED)
This is a 3-period study. Periods 1 and 2 will evaluate the effects of multiple doses of laropiprant on the antiplatelet effects of clopidogrel and aspirin administered in combination in participants with primary…
- Trial name
- NCT01012219
- Testing
- niacin (+) laropiprant, Comparator: aspirin, Comparator: clopidogrel
- Volunteers
- 36 people
- Sponsor
- Merck Sharp & Dohme LLC
Lactose Intolerance
Perceived Lactose Intolerance
The goal of this study was to examine the effects of self-perceived lactose intolerance (SPLI) as it relates to calcium intake and specific health problems that have been attributed to reduced intake of calcium and foods from the…
- Trial name
- NCT01331265
- Where
- United States
- Volunteers
- 3,815 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Phenylketonuria (PKU)
Multiomics Approach in Adult Patients With Phenylketonuria
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
- Trial name
- GENOPHEN (NCT07484945)
- Where
- 15 sites in France
- Volunteers
- 149 people
- Sponsor
- University Hospital, Tours
LPL Deficiency
Alipogene Tiparvovec for the Treatment of LPLD Patients
The aim of the study is to provide further confirmatory evidence of clinical benefit in LPLD patients treated with alipogene tiparvovec by assessing both the "clinical response" (as defined by a range of parameters), and "the…
- Trial name
- NCT02904772
- Testing
- alipogene tiparvovec, Prednisolone, Cyclosporins
- Where
- 2 sites in United States, Canada
- Sponsor
- UniQure Biopharma B.V.
Wilson's Disease
Gandouling in the Treatment of Wilson's Disease
To evaluate the efficacy and safety of gandouling tablet in the treatment of clinical symptoms of Wilson's diasease.
- Trial name
- NCT05305872
- Testing
- Gandouling
- Where
- China
- Volunteers
- 240 people
- Sponsor
- Jun Li
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