Clinical trials: Inherited Metabolic Disorders
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Pre-eclampsia, Gestational Diabetes Mellitus (GDM)
Placental Biology in Health and Disease
Pre-eclampsia (PET) is a condition characterised by high blood pressure and damage to other organs, and is a leading cause of maternal and fetal complications such as fetal growth restriction (FGR).
- Conditions
- Pre-eclampsia, Gestational Diabetes Mellitus (GDM), Fetal Growth Restriction (FGR), Pregnancy Induced Hypertension (PIH)
- Trial name
- NCT07470320
- Testing
- There are no interventions for this study
- Where
- United Kingdom
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Hereditary Hemochromatosis
Cardiac Function in Patients With Hereditary Hemochromatosis
This study will examine the effect of iron buildup in the hearts of patients with hereditary hemochromatosis (HH), a genetic disease that causes the body to accumulate excess amounts of iron.
- Trial name
- NCT00068159
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Severe Sickle Cell Disease, Bone Marrow Failure Syndromes
Reduced Intensity Conditioning and Familial HLA-Mismatched BMT for Non-Malignant Disorders
This study is designed to estimate the efficacy and toxicity of familial HLA mismatched bone marrow transplants in patients with non-malignant disease who are less than 21 years of age and could benefit from the procedure.
- Conditions
- Severe Sickle Cell Disease, Bone Marrow Failure Syndromes, Metabolic Disorders, Immunologic Disorders
- Trial name
- FAM BMT (NCT03128996)
- Testing
- RIC regimen, GVHD prophylaxis regimen
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Washington University School of Medicine
Porphyria Cutanea Tarda
Study of the Pathogenesis of Porphyria Cutanea Tarda
OBJECTIVES: I. Determine the effect of standard treatments on various predisposing factors in patients with porphyria cutanea tarda (PCT). II.
- Trial name
- NCT00005103
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Center for Research Resources (NCRR)
Gout, CKD Stage 1-4
The Impact of Urate-lowering Therapy on Kidney Function (IMPULsKF)
This trial aims to investigate the impact of two target levels uric acid-lowering therapy (ULT) caused by hyperuricemia (HU) on kidney function and CKD progression [1] measured by eGFR and albuminuria (A) [2].
- Conditions
- Gout, CKD Stage 1-4, SUA Level (>8 mg/dL; 480 µmol/L)
- Trial name
- IMPULsKF (NCT03336203)
- Testing
- Febuxostat 80 MG Oral Tablet or Allopurinol 300 MG Oral Tablet
- Where
- Ukraine
- Volunteers
- 2 people
- Sponsor
- Medical Practice Prof D. Ivanov
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Neuropathy
High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
The primary objective is to demonstrate, in a population of chronic neuromuscular disease the non-inferiority of a rehabilitation treatment integrated with robotic and/or technological devices compared to traditional…
- Conditions
- Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Neuropathy, Charcot-Marie-Tooth Disease
- Trial name
- Fit4MR-ChrMND (NCT06881979)
- Testing
- High-tech rehabilitative treatment, Rehabilitation
- Where
- 7 sites in Italy
- Volunteers
- 60 people
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
Attention Deficit Disorder With Hyperactivity, Asthma
Study of an Intervention to Improve Problem List Accuracy and Use
The aim of this study is to identify patients with problem list gaps and intervene to correct these gaps by creating clinical decision support interventions that alert providers to likely problem list gaps and offer clinicians…
- Conditions
- Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer
- Trial name
- MAPLE (NCT01105923)
- Testing
- MAPLE
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- Brigham and Women's Hospital
Niemann-Pick Type C Disease
Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous System
This study was amended from expanded access to a clinical trial. Information will be collected about long-term safety and effectiveness of adrabetadex shots in the spine every 2 weeks.
- Trial name
- NCT03643562
- Testing
- Adrabetadex
- Where
- 17 sites in United States
- Volunteers
- 27 people
- Sponsor
- Mandos LLC
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in…
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Trial name
- NCT01780168
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Wilson Disease
Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
This study is being conducted to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics of ALXN1840 versus standard of care in pediatric participants with Wilson disease (WD).
- Trial name
- NCT05047523
- Testing
- ALXN1840, Standard of Care
- Where
- 20 sites in Australia, France and 5 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Mortality, Hyperhomocysteinemia
5-methyltetrahydrofolate Survival and Inflammation in ESRD Patients
A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked.
- Conditions
- Mortality, Hyperhomocysteinemia, Inflammation
- Trial name
- NCT00626223
- Testing
- 5-MTHF (5-methyltetrahydrofolate), folic acid
- Where
- Italy
- Volunteers
- 341 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Glycogen Storage Disease Type II
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
- Trial name
- NCT04848779
- Testing
- Alglucosidase alfa GZ419829
- Where
- 15 sites in United States, Belgium and 7 more
- Volunteers
- 16 people
- Sponsor
- Sanofi
Hyperphagia, Prader-Willi Syndrome
The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS) when used in a long term setting. It will also teach us about the safety of ARD-101.
- Conditions
- Hyperphagia, Prader-Willi Syndrome, Hyperphagia in Prader-Willi Syndrome
- Trial name
- NCT07197034
- Testing
- ARD-101
- Where
- 30 sites in United States, Australia and 3 more
- Volunteers
- 19 people
- Sponsor
- Aardvark Therapeutics, Inc.
Gout, Hyperuricemia
A Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ABP-671 in Healthy Subjects
The purpose of this study is to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of single ascending doses of ABP-671 administered orally in healthy volunteers.
- Trial name
- NCT03906006
- Testing
- ABP-671
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Atom Therapeutics Co., Ltd
Transthyretin Amyloid Polyneuropathy (ATTR-PN)
The Effect Of Tafamidis Meglumine In Transthyretin Amyloid Polyneuropathy Patients
This is a single-arm, open-label, multicenter study designed to evaluate the efficacy, safety, tolerability as well as pharmacodynamics of tafamidis meglumine in ATTR-PN participants in China.
- Trial name
- NCT04828993
- Testing
- tafamidis meglumine
- Where
- 9 sites in China
- Volunteers
- 15 people
- Sponsor
- Pfizer
Refractory Gout
A Study of IN026 in Participants With Refractory Gout
The goal of this clinical study is to learn if IN026 Injection is safe and works to lower uric acid levels in adults with refractory gout (gout that does not respond well to standard treatments).
- Trial name
- NCT07587684
- Testing
- IN026 Injection
- Where
- China
- Volunteers
- 16 people
- Sponsor
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
McArdle Disease
Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V).
- Trial name
- NCT04694547
- Testing
- There is no intervention, as this is a survey study
- Where
- Denmark
- Volunteers
- 200 people
- Sponsor
- Nicoline Løkken
Diamond-Blackfan Anemia, Kostmann's Neutropenia
Stem Cell Transplant for Bone Marrow Failure Syndromes
The researchers hypothesize that it will be possible to perform unrelated bone marrow or cord blood transplants in a safer manner by using less intensive therapy yet still achieve an acceptable level of donor cell engraftment for…
- Conditions
- Diamond-Blackfan Anemia, Kostmann's Neutropenia, Shwachman-Diamond Syndrome
- Trial name
- NCT00176878
- Testing
- Stem cell transplant, Fludarabine monophosphate, Total lymphoid irradiation
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Masonic Cancer Center, University of Minnesota