Clinical trials: Metabolism, Inborn Errors
Sphingolipidoses, Enzyme Deficiency
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry.
- Trial name
- SPLIS-OSPRI (NCT04885179)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Cytomegalovirus Infection
Valganciclovir for Treatment of Cytomegalovirus Infection in Solid Organ Transplant Patients
The objectives of this study were: 1. To demonstrate the efficacy/safety of a short therapeutic strategy of treatment of CMV infection/disease in SOT patients (kidney, liver and heart recipients) based on 21 days of treatment. 2.
- Trial name
- NCT00730769
- Testing
- Single arm (ganciclovir and valganciclovir)
- Where
- Spain
- Volunteers
- 21 people
- Sponsor
- Salvador Gil-Vernet
Healthy
Comparison of KADIAN 100 mg When Dosed With Alcohol Under Fasting and Fed Conditions Compared to Water
The objective of this study was to compare the single-dose relative bioavailability of Alpharma Branded Products Division Inc. (KADIAN) 100 mg morphine sulfate extended-release capsules when dosed with alcohol under fasting and…
- Trial name
- NCT00768183
- Testing
- KADIAN Capsule + alcohol (under fasting conditions), KADIAN Capsule + water (under fasting conditions), morphine sulfate IR oral solution + water
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Actavis Inc.
Biotinidase Deficiency
Study of ORL-1B in Patients With Biotinidase Deficiency
An Open-label, Single-arm, Phase 2 Study of Biotin in Patients With Biotinidase Deficiency.
- Trial name
- NCT03269045
- Testing
- ORL-1B
- Volunteers
- 20 people
- Sponsor
- Orpha Labs
Fasting, Fed
Use of Breath Acetone aa a Marker of Energy Balance
This study aims at assessing whether breath acetone concentration is a good bio-marker of instantaneous energy balance in healthy subjects.
- Trial name
- ACEX (NCT03390881)
- Testing
- Fasting condition, Sugar condition, Fat condition
- Where
- Switzerland
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
X-linked Hypophosphatemia (XLH)
Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
This study is a prospective, randomized, single-blind, split-mouth, national multicenter trial, comparing the efficacy of a self-etch adhesive system combined (SAM) with a flowable composite to that of a fluoride varnish for the…
- Trial name
- PRADEX (NCT04872907)
- Testing
- adhesive system, fluoride varnish, flowable composite
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Adrenal Hyperplasia, Adrenal Insufficiency
Evaluation of Circadian Hormonal Balance: LC-MS/MS Measurement of Salivary and Serum Steroids in Patients With Congenital Adrenal Hyperplasia
In congenital adrenal hyperplasia (CAH), lifelong hormone replacement therapy is required to treat adrenal insufficiency and to reduce elevated androgen levels. This is essential to ensure "normal" growth and puberty.
- Conditions
- Congenital Adrenal Hyperplasia, Adrenal Insufficiency, Hyperandrogenism; 21-hydroxylase Deficiency
- Trial name
- MASSALIVE (NCT07718230)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fabry Disease
Establishment of Biomarkers for Fabry Disease
Fabry disease, an x-linked recessive lysosomal storage disease (LSD) is commonly recognized as a cause of renal failure in involved men and more recently recognized in women too.
- Trial name
- NCT01165697
- Testing
- Fluorescein angiography
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Ohio State University
Fabry Disease
Replagal Enzyme Replacement Therapy for Adults With Fabry Disease
This study will determine the safety and effectiveness of the drug Replagal for treating people with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00097890
- Testing
- Replagal (Agalsidase Alfa), Replagal
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cardiovascular Risk Factor, Cardiovascular Diseases
Umbrella Review of the DASH Dietary Pattern and Cardiometabolic Risk
The European Association for the Study of Diabetes (EASD) guidelines have not made any specific recommendations regarding the Dietary Approaches to Stop Hypertension (DASH) diet, a dietary pattern that emphasizes fruits and…
- Conditions
- Cardiovascular Risk Factor, Cardiovascular Diseases, Coronary Heart Disease, Stroke
- Trial name
- NCT03542370
- Testing
- DASH dietary pattern
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- University of Toronto
Mucopolysaccharidosis I, Lysosomal Storage Diseases
Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I).
- Conditions
- Mucopolysaccharidosis I, Lysosomal Storage Diseases, Spinal Cord Compression
- Trial name
- NCT00215527
- Testing
- laronidase
- Where
- 2 sites in United States, Finland
- Volunteers
- 4 people
- Sponsor
- Patricia I. Dickson, M.D.
Diffuse Intrinsic Pontine Glioma (DIPG), Brain Stem Glioma
Brain Stem Gliomas Treated With Adoptive Cellular Therapy During Focal Radiotherapy Recovery Alone or With Dose-intensified Temozolomide (Phase I)
The standard of care for children with DIPG includes focal radiotherapy (RT) but outcomes have remained dismal despite this treatment.
- Trial name
- BRAVO (NCT03396575)
- Testing
- TTRNA-DC vaccines with GM-CSF, TTRNA-xALT, Cyclophosphamide + Fludarabine Lymphodepletive Conditioning
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Florida
Pompe Disease
Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase.
- Trial name
- POEM (NCT05092230)
- Where
- Martinique
- Volunteers
- 100 people
- Sponsor
- University Hospital Center of Martinique
Cardiac Amyloidosis
PATHWAY-RCT: Preventing Admission To Hospital With Attr cardiomyopathY
Cardiac amyloidosis is a condition where the heart muscle, amongst other tissues, is infiltrated by the abnormal build-up of proteins called amyloid.
- Trial name
- PATHWAY-RCT (NCT05098665)
- Testing
- Telemonitoring service
- Where
- United Kingdom
- Volunteers
- 320 people
- Sponsor
- Richmond Research Institute
Bone Marrow Failure Syndrome, Severe Aplastic Anemia
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
This study's goal is to determine the frequency and severity of acute graft versus host disease, to evaluate incidence of primary and secondary graft rejection, to assess event free survival and overall survival, to determine the…
- Conditions
- Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia
- Trial name
- NCT01966367
- Testing
- CD34 Stem Cell Selection Therapy
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Diane George
Hemochromatosis, Type 4, Ferroportin Disease
Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis.
The diagnosis of iron overload is a common problem. It is important to optimize the diagnosis to ensure support for patients and their relatives especially regarding genetic disease.
- Conditions
- Hemochromatosis, Type 4, Ferroportin Disease, Dysmetabolic Hepatosiderosis, Diagnosis
- Trial name
- NCT01949467
- Testing
- iron fumarate
- Where
- 4 sites in France
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Rennes University Hospital
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they…
- Conditions
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- Trial name
- NCT04098211
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital of Orange County
Phenylketonuria
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).
- Trial name
- NCT07241234
- Testing
- AG-181
- Where
- 5 sites in United States, Poland
- Volunteers
- 20 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Primary Hyperoxaluria
Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1
The purpose of this study is to provide expanded access to lumasiran for adults and pediatric patients with Primary Hyperoxaluria Type 1 (PH1),
- Trial name
- NCT04125472
- Testing
- Lumasiran
- Sponsor
- Alnylam Pharmaceuticals
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
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