Clinical trials: Metabolism, Inborn Errors
Gaucher Disease
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00478647
- Testing
- GA-GCB (velaglucerase alfa)
- Where
- 15 sites in United States, Israel and 3 more
- Volunteers
- 40 people
- Sponsor
- Shire
Chronic Pain in the Extremities, Chronic Abdominal Pain
Screening for Fabry Disease in a Pediatric Population at Risk
The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities
- Conditions
- Chronic Pain in the Extremities, Chronic Abdominal Pain, Fabry Disease
- Trial name
- NCT02152189
- Testing
- Screening for Fabry disease
- Where
- Germany
- Volunteers
- 1,422 people
- Sponsor
- University Hospital Heidelberg
Hypercholesterolemia, Familial
Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.
- Trial name
- NCT03018678
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Pennsylvania
Albinism, Vision Loss
Nitisinone for Type 1B Oculocutaneous Albinism
Background: Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes.
- Trial name
- NCT01838655
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Phenylketonurias
Evaluation of PKU Sphere
A prospective, open-label study of PKU Sphere in patients with PKU following a phenylalanine restricted therapeutic diet.
- Trial name
- NCT03419819
- Testing
- PKU Sphere
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Hypophosphatasia
A Prospective Sub-Study of the Global Hypophosphatasia Registry
In this prospective observational sub-study, participants with pediatric-onset hypophosphatasia (HPP) (perinatal/infantile- or juvenile-onset) of any age will be followed for a minimum of 5 years at sites in the United States and…
- Trial name
- NCT05234567
- Testing
- Asfotase Alfa
- Where
- 12 sites in United States
- Volunteers
- 30 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Ornithine Transcarbamylase (OTC) Deficiency
Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
This is a Phase 1/2, open-label, single arm, multicenter, safety and dose finding study of DTX301 in adults with late-onset OTC deficiency.
- Trial name
- CAPtivate (NCT02991144)
- Testing
- scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Supraventricular Arrhythmia, Left Atrial Abnormality
Left Atrial Strain and Supraventricular Arrhythmia Burden in Cardiac Light Chain Amyloidosis Following Chemotherapy
The purpose of this study to assess the longitudinal changes in left atrial strain and supraventricular arrhythmia burden after chemotherapeutic strategies in cardiac light chain amyloidosis.
- Conditions
- Supraventricular Arrhythmia, Left Atrial Abnormality, Amyloid Cardiomyopathy, Congestive Heart Failure
- Trial name
- NCT05448716
- Testing
- Left Atrial Strain Imaging, Electrocardiography
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Istanbul University - Cerrahpasa
Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors
Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population.
- Conditions
- Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors, Glucose Metabolism Disorders
- Trial name
- NCT02979106
- Testing
- Test meal
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Fabry Disease
Replagal Enzyme Replacement Therapy for Children With Fabry Disease
Primary Objective(s): To assess the safety of Replagal at a dose of 0.2 mg/kg administered over 40 (+/-10) minutes in children with Fabry disease To assess the effect of Replagal on heart rate variability in patients 7 to 17…
- Trial name
- NCT00084084
- Testing
- Agalsidase alfa
- Where
- 14 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Heterozygous Familial Hypercholesterolemia, Premature Coronary Heart Disease
A Study of VERVE-102 in Patients With Familial Hypercholesterolemia or Premature Coronary Artery Disease
VT-10201 is an Open-label, Phase 1b, Single-ascending Dose Study That Will Evaluate the Safety of VERVE-102 Administered to Patients With Heterozygous Familial Hypercholesterolemia (HeFH) or Premature Coronary Artery Disease…
- Trial name
- NCT06164730
- Testing
- VERVE-102
- Where
- 27 sites in United States, Australia and 4 more
- Volunteers
- 85 people
- Sponsor
- Verve Therapeutics, Inc.
Amyloidosis, Hereditary
Southeastern ATTR Amyloidosis Consortium: SEATTRAC Family Registry
The study design is a prospective registry including asymptomatic and symptomatic patients who carry a pathogenic TTR mutation. The study will enroll patients who meet the inclusion criteria and none of the exclusion criteria…
- Trial name
- NCT05974644
- Testing
- Registry
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Virginia Commonwealth University
Gout Attack
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Evaluation of RPH-104 Administered at Different Doses to Patients With Acute Gout Attack
The primary goal of the study was to evaluate the parameters of efficacy, pharmacokinetics, pharmacodynamics, safety and tolerability of a single dose of RPH-104 in adult patients with acute gout attack.
- Trial name
- NCT04067492
- Testing
- RPH - 104, Voltaren®
- Where
- 11 sites in Russia
- Volunteers
- 47 people
- Sponsor
- R-Pharm
Oculocutaneous Albinism
Peripheral Serotonin and Albinism
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS).
- Trial name
- SEPIAs (NCT06138509)
- Testing
- Dosage of serotonin and metabolites, Blood parameters
- Where
- France
- Volunteers
- 160 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gout
A Multicentre, Randomized, Double-blind, Allopurinol Controlled Study to Evaluate the Efficacy and Safety of SHR4640 in Subjects With Gout
This study will assess the serum uric acid lowering effects and safety of SHR4640 compared to Allopurinol in subjects with gout.
- Trial name
- NCT04956432
- Testing
- SHR4640, Allopurinol
- Where
- China
- Volunteers
- 779 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Adrenal Hyperplasia, Congenital, Congenital Hypothyroidism
Clinical Evaluation of NeoPlex4 Assay and NeoPlex System
The purpose of this study is to assess the agreement of clinical performance between the proposed NeoPlex 4 assay and NeoPlex System and the comparator devices in clinical use in newborn screening programs for detection of T4…
- Conditions
- Adrenal Hyperplasia, Congenital, Congenital Hypothyroidism, Cystic Fibrosis
- Trial name
- NCT01488721
- Where
- 3 sites in United States
- Volunteers
- 7,462 people, healthy volunteers welcome
- Sponsor
- Luminex Corporation
Metachromatic Leukodystrophy (MLD)
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
The purpose of this study is to determine the safety of ascending doses of HGT-1110 administered by intrathecal (IT) injection for 38 weeks (20 injections) in children with metachromatic leukodystrophy (MLD).
- Trial name
- IDEAMLD (NCT01510028)
- Testing
- Recombinant human arylsulfatase A
- Where
- 5 sites in Australia, Denmark and 3 more
- Volunteers
- 24 people
- Sponsor
- Shire
Hypoleptinemia, Generalized Lipodystrophy
Trial of Leptin Replacement Therapy in Patients With Lipodystrophy
Lipodystrophies represent a therapeutic challenge with regards to insulin resistance, hypertriglyceridemia and fatty liver which often is coupled with significant adipose tissue loss.
- Conditions
- Hypoleptinemia, Generalized Lipodystrophy, Partial Lipodystrophy, Insulin Resistance
- Trial name
- NCT00896298
- Testing
- Leptin
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of Texas Southwestern Medical Center
Hereditary Hemochromatosis
Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients
Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism, resulting in excessive iron overload. Phlebotomy is currently the standard therapy.
- Trial name
- NCT01398644
- Testing
- Phlebotomy and erythrocytapheresis
- Where
- Netherlands
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Sanquin Research & Blood Bank Divisions
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