Clinical trials: Metabolism, Inborn Errors
Pompe Disease
Clinical Specimen Collection From Pompe Disease Patients
Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01.
- Trial name
- NCT04476550
- Testing
- Filgrastim
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Serhat Gumrukcu, MD PhD
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
Congenital Adrenal Hyperplasia
Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
This study is a randomized, double-blind, active-controlled, phase III study of Chronocort® compared with immediate-release hydrocortisone replacement therapy in participants aged 16 years and over with Congenital Adrenal…
- Trial name
- CONnECT (NCT05063994)
- Testing
- Chronocort, Cortef
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 55 people
- Sponsor
- Neurocrine UK Limited
Behavioral Manifestations of Lesch-Nyhan Disease
Trial of Kuvan in Lesch-Nyhan Disease
To assess the possibility that treatment with Kuvan (a form of tetrahydrobiopterin) will lessen the abnormal behavior and/or neurology commonly found in Lesch-Nyhan disease (LND); to assess biochemical changes as measured in…
- Trial name
- NCT00935753
- Testing
- sapropterin
- Where
- United States
- Sponsor
- University of California, San Diego
Glycogen Storage Disease Type III
Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
The primary objective of this study is to evaluate potential biomarkers of GSD III.
- Trial name
- NCT04574830
- Testing
- No Intervention
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Inborn Errors of Metabolism, Pregnancy
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
Background: People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby.
- Conditions
- Inborn Errors of Metabolism, Pregnancy, Acidemias
- Trial name
- NCT02322177
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Inborn Errors of Metabolism, Propionic Aciduria
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Trial name
- IEM (NCT05330039)
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Emma Marie Caroline Slack
Homozygous Familial Hypercholesterolemia
Study of ARO-ANG3 in Participants With Homozygous Familial Hypercholesterolemia (HOFH)
Participants with documented homozygous familial hypercholesterolemia (HoFH) who have provided informed consent will receive 2 open-label doses of ARO-ANG3 and be evaluated for safety and efficacy parameters through 36 weeks.
- Trial name
- Gateway (NCT05217667)
- Testing
- ARO-ANG 3 Injection
- Where
- 7 sites in United States, Australia and 2 more
- Volunteers
- 18 people
- Sponsor
- Arrowhead Pharmaceuticals
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
Phenylketonuria
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
This Phase 3 study will evaluate the safety, effectiveness, tolerability, and how the body processes JNT-517 in children, adolescents, and adults with phenylketonuria.
- Trial name
- NCT06971731
- Testing
- JNT-517
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 120 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Congenital Metabolic Disorder, Acute Disease
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes.
- Trial name
- NCT03175692
- Testing
- Whole Exome Sequencing
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- National Taiwan University Hospital
Phenylketonurias
PheCheck Feasibility Study
The goal of this feasibility study clinical trial is to compare the accuracy of PheCheck™ for the rapid quantitative detection of phenylalanine (Phe) with the gold standard (HPLC amino acid analyzer), in patients with PKU.
- Trial name
- NCT05998109
- Testing
- PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Lumos Diagnostics
Pelizaeus-Merzbacher Disease, PMD
Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)
The purpose of this study is to determine the long term safety and preliminary effect of HuCNS-SC cells transplanted in subjects with Connatal Pelizaeus-Merzbacher Disease (PMD).
- Trial name
- NCT01391637
- Testing
- HuCNS-SC transplant in the lead-in phase
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- StemCells, Inc.
Cardiac Amyloidosis
Cardiac Amyloidosis Registry of University Hospital Leipzig
This is a clinical registry of patients with cardiac amyloidosis being treated at University Hospital Leipzig. The aim of the registry is to collect detailed information about clinical events, symptoms, imaging, biomarkers…
- Trial name
- NCT06129656
- Testing
- Routine diagnostics, Routine treatment
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- University of Leipzig
Familial Partial Lipodystrophy Type 2
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
Familial partial lipodystrophic syndromes are characterized by an increase in visceral adipose tissue and an atrophy of subcutaneous adipose tissue.
- Trial name
- LIPOCORT (NCT04845165)
- Testing
- Biopsy
- Where
- France
- Volunteers
- 25 people
- Sponsor
- University Hospital, Lille
Hypoparathyroidism, Pseudo Hypoparathyroidism
Tunisian Clinical Registry on Hypoparathyroidism and Pseudo-hypoparathyroidism
Observational, multicenter, national, cross-sectional study aiming to describe the epidemiological clinical, biological and therapeutic profile of patients suffering from defect in secretion (hypoparathyroidism) or action…
- Trial name
- THYPARS (NCT06445036)
- Where
- Tunisia
- Volunteers
- 1,000 people
- Sponsor
- Dacima Consulting
Brain Injuries, Congenital Heart Disease
Protecting Brains and Saving Futures - the PBSF Protocol
Background: Multiple neonatal disorders are associated with risks of neurological injury. Thus, management of these infants should involve a coordinated approach to permit early diagnosis with improved clinical care.
- Conditions
- Brain Injuries, Congenital Heart Disease, Newborn Morbidity, Intraventricular Hemorrhage
- Trial name
- PBSF (NCT03786497)
- Where
- 2 sites in Brazil
- Volunteers
- 2,268 people
- Sponsor
- Protecting Brains Saving Futures
Hypobetalipoproteinemia
HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism
The aim of this study is to identify new targets in cholesterol metabolism thanks to a genetically-based strategy.
- Trial name
- HYPOCHOL (NCT02354079)
- Testing
- hypobetalipoproteinemia genetic and genotypic screening
- Where
- France
- Volunteers
- 435 people
- Sponsor
- Nantes University Hospital
Barth Syndrome
A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome
A randomized, double-blind cross over trial to evaluate the safety, efficacy, and tolerability of elamipretide in subjects with Barth syndrome.
- Trial name
- TAZPOWER (NCT03098797)
- Testing
- Elamipretide
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Stealth BioTherapeutics Inc.
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