Clinical trials: Metabolism, Inborn Errors
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
Fabry Disease
Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease
This is a single-arm, open label, single-dose clinical study to evaluate the safety, tolerability and efficacy of BBM-F101 injection in the pediatric Fabry disease participants up to 52 weeks after infusion, and the long-term…
- Trial name
- NCT06207552
- Testing
- BBM-F101 injection
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Fudan University
Gout, Hyperuricemia
Study of Tranilast Alone or in Combination With Allopurinol in Subjects With Hyperuricemia
This is a randomized, double-blind, 3-period 3-treatment crossover followed by a 2-period 2-treatment crossover, phase 2 study in patients with documented hyperuricemia to evaluate the effect of tranilast on allopurinol…
- Trial name
- NCT01052987
- Testing
- Tranilast, Allopurinol, Combination - Tranilast and Allopurinol
- Where
- 3 sites in United States
- Volunteers
- 24 people
- Sponsor
- Nuon Therapeutics, Inc.
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak
Pyruvate Dehydrogenase Complex Deficiency
Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.
In this study phenylbutyrate is used for patients with pyruvate dehydrogenase complex deficiency. The aim of the study is to investigate the safety and efficacy of therapy.
- Trial name
- TIGEM2-PDH (NCT03734263)
- Testing
- sodium phenylbutyrate
- Where
- Italy
- Volunteers
- 1 people
- Sponsor
- Fondazione Telethon
Gout Flares
A Proof-of-Concept Study of AC-201 to Prevent Gout Flares
Initiation of ULT for gout increases the occurrence of acute gouty arthritis flares due to mobilization of urate from tissue deposits. IL-1β plays a key role in mediating the inflammatory response in gouty arthritis.
- Trial name
- NCT01712204
- Testing
- AC-201, Febuxostat
- Where
- Taiwan
- Volunteers
- 82 people
- Sponsor
- TWi Biotechnology, Inc.
Adrenomyeloneuropathy
Study to Assess PXL770 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL770 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05146284
- Testing
- PXL770
- Sponsor
- Poxel SA
Irritable Bowel Syndrome (IBS)
New Microbiota-endocrine Axis in Fructose Malabsorption-caused Visceral Hypersensitivity in Irritable Bowel Syndrome.
Irritable bowel syndrome (IBS) affects around 4% of the general population and remains the most common functional bowel disorder.
- Trial name
- ENDOLORII (NCT07337707)
- Testing
- urine intestinal permeability test or lactulose/mannitol test, Blood test, food diary
- Where
- France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Rouen
Familial Hypercholesterolemia - Homozygous
Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children With Homozygous Familial Hypercholesterolemia
This is a pivotal phase III study designed to evaluate safety, tolerability, and efficacy of inclisiran in children (aged 2 to <12 years) with homozygous familial hypercholesterolemia (HoFH) and elevated low density lipoprotein…
- Trial name
- ORION-19 (NCT06597006)
- Testing
- Inclisiran
- Where
- 19 sites in United States, Austria and 9 more
- Volunteers
- 9 people
- Sponsor
- Novartis Pharmaceuticals
X-Linked Hypophosphatemia
Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
The primary objectives of this study are to: Assess the long-term safety of KRN23 subcutaneous (SC) administration in adult subjects with XLH Assess the proportion of subjects achieving serum phosphorus levels in the normal range…
- Trial name
- NCT02312687
- Testing
- KRN23
- Where
- 5 sites in United States
- Volunteers
- 20 people
- Sponsor
- Kyowa Kirin, Inc.
Fabry Disease
Pulmonary Involvement in Patients With Fabry Disease
The objective of this study is to investigate whether Agalsidase alpha, a drug commonly prescribed in patients with Fabry disease, is associated with improvement of the pulmonary involvement.
- Trial name
- NCT01632111
- Testing
- Lung function measurement
- Where
- Switzerland
- Volunteers
- 110 people
- Sponsor
- University of Zurich
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
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.
Infection Viral, Uveitis, Posterior
High-dose Intravitreal Injection of Ganciclovir for the Treatment of CMVR in HIV-negative Patients
This prospective, non-randomized, non-controlled clinical trial was conducted to examine the clinical outcomes achieved by using initial high-dose intravitreal ganciclovir injections of ganciclovir in treating cytomegalovirus…
- Trial name
- NCT03598452
- Testing
- Ganciclovir
- Volunteers
- 33 people
- Sponsor
- Aier School of Ophthalmology, Central South University
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
The study quantitates behavioral challenges in mucopolysaccharidosis type I-III and parental coping strategies
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type III, Behavior Disorders
- Trial name
- NCT03161171
- Testing
- This is an observational study
- Where
- Germany
- Volunteers
- 34 people
- Sponsor
- University Hospital Heidelberg
Sphingomyelin Lipidosis
A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Primary Objective: To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD To describe…
- Trial name
- NCT04106544
- Testing
- Investigational Procedures
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 84 people
- Sponsor
- Sanofi
Alexander Disease
Evaluation of Outcome Metrics in Alexander Disease
The purpose of this study is to define the natural history of Alexander Disease, a leukodystrophy that causes neurological dysfunction.
- Trial name
- AxD Outcomes (NCT02714764)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric
Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
The purpose of this study is to evaluate the ability of Phenoptin to control blood phenylalanine levels in subjects who have hyperphenylalaninemia due to a primary BH4 deficiency and to evaluate the safety of Phenoptin in this…
- Trial name
- NCT00355264
- Testing
- Phenoptin
- Where
- 10 sites in United States, Germany
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Jansky-Bielschowsky Disease, Batten Disease
An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02485899
- Testing
- BMN 190, Intracerebroventricular (ICV) access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 23 people
- Sponsor
- BioMarin Pharmaceutical
Gout, Hyperuricemia
Renal PK Study of LC350189
This is a Phase 1, open-label, parallel-group, multiple-dose study designed to assess the effect of renal impairment on the PK and PD of LC350189.
- Trial name
- NCT04066712
- Testing
- LC350189 200 mg
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- LG Chem
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