Clinical trials: Inborn Errors of Metabolism Disorders
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 2 sites in United States, Denmark
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child)
Inherited Diseases, Caregiving, and Social Networks
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of…
- Conditions
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism)
- Trial name
- NCT01498263
- Where
- 2 sites in United States
- Volunteers
- 682 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.
AMN, AMN Gene Mutation
A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)
This is a Phase 1/2 randomized, blinded, dose-escalation study to evaluate the safety and efficacy of intrathecal (IT) administration of SBT101, a recombinant adeno-associated virus serotype 9 (AAV9) containing a functional copy…
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- PROPEL (NCT05394064)
- Testing
- SBT101 Treatment
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 9 people
- Sponsor
- SwanBio Therapeutics, Inc.
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors
Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders
Preventive measures are increasingly coming to the forefront of medicine. Many of these measures can be implemented as early as childhood and adolescence.
- Conditions
- Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Congenital Heart Disease, Inflammatory Bowel Disease (IBD)
- Trial name
- FAMELIPIDCHILD (NCT07716488)
- Testing
- blood test, questionaire
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- Alexandra Miriam Kiess
Neuromuscular Disease, Neuromuscular Diseases (NMD)
A Phase 3 Study of NTLA-2001 in ATTRv-PN
This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
- Conditions
- Neuromuscular Disease, Neuromuscular Diseases (NMD), Neurodegenerative Disease, Neurodegenerative Disease, Hereditary
- Trial name
- NCT06672237
- Testing
- nexiguran ziclumeran
- Where
- 14 sites in Argentina, Brazil and 4 more
- Volunteers
- 60 people
- Sponsor
- Intellia Therapeutics
Leukemia, High Risk Acute Lymphoblastic Leukemia
Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCT
The major morbidities of allogeneic hematopoietic stem cell transplant (HSCT) using donors that are not human leukocyte antigen (HLA) matched siblings are graft vs host disease (GVHD) and life- threatening infections.
- Conditions
- Leukemia, High Risk Acute Lymphoblastic Leukemia, High Risk Acute Myeloid Leukemia, Relapse Leukemia
- Trial name
- NCT06839456
- Testing
- Phase 1 Dose Level 1, Phase 1 Dose Level 2, Phase 1 Dose Level 3
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Children's Hospital of Philadelphia
Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia)
Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.
- Trial name
- NCT03970278
- Testing
- No intervention
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Leukemia, Inborn Errors of Metabolism
Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC
The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT).
- Conditions
- Leukemia, Inborn Errors of Metabolism, Bone Marrow Failure Syndromes, Immunodeficiencies
- Trial name
- ExpMACs (NCT02356653)
- Testing
- Transplant of stem cells with CD3+/CD19+ depletion (CliniMACs)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Children's Hospital of Philadelphia
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Primary Immunodeficiencies, Inborn Errors of Metabolism
Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases
The aim of the trial is to describe the safety and efficacy of intravenous (i.v.) Treosulfan compared to the conventional (myeloablative) dose of i.v.
- Conditions
- Primary Immunodeficiencies, Inborn Errors of Metabolism, Haemoglobinopathies, Bone Marrow Failure Syndromes
- Trial name
- NCT02349906
- Testing
- Treosulfan, Busilvex
- Where
- 21 sites in Czechia, Germany and 2 more
- Volunteers
- 106 people
- Sponsor
- medac GmbH
Hematologic Malignancies, Inborn Errors of Metabolism Disorders
Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
The objective of this study is to make T-cell depleted stem cells from a family member who is a half match (haplo-identical) available on an expanded access basis to patients receiving one or two unrelated cord blood transplants…
- Conditions
- Hematologic Malignancies, Inborn Errors of Metabolism Disorders, Immune Deficiencies
- Trial name
- NCT01881334
- Testing
- CliniMACS CD34 Reagent System
- Where
- United States
- Sponsor
- Joanne Kurtzberg, MD
Krabbe Disease
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
This is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects will receive a single infusion of an adeno-associated virus gene therapy product, after more than 21 days of the HSCT (UCBT…
- Trial name
- REKLAIM (NCT05739643)
- Testing
- FBX-101
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Forge Biologics, Inc
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Congenital Adrenal Hyperplasia, Hyperplasia
Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
This is an open-label, non-randomized, single arm proof-of concept feasibility trial comparing standard oral hydrocortisone (HC) treatment with a six-week intervention of interval bolus delivery (pulsatile) of subcutaneous (SQ)…
- Conditions
- Congenital Adrenal Hyperplasia, Hyperplasia, Adrenal Hyperplasia, Congenital Disorders
- Trial name
- NCT03718234
- Testing
- Subcutaneous hydrocortisone
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Minnesota
Dyslipidemias, High Cholesterol
Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
This study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROOKLYN (NCT05425745)
- Testing
- Obicetrapib
- Where
- 96 sites in United States, Canada and 8 more
- Volunteers
- 354 people
- Sponsor
- NewAmsterdam Pharma
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill