Clinical trials: Brain Diseases, Metabolic, Inborn
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Leigh Syndrome, Leigh Disease
The International Registry for Leigh Syndrome
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome.
- Conditions
- Leigh Syndrome, Leigh Disease, Leigh's Necrotizing Encephalopathy, Subacute Necrotizing Encephalomyopathy
- Trial name
- NCT03137355
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- The University of Texas Health Science Center, Houston
Neuroblastoma, Osteosarcoma
Study of CAR T-Cells Targeting the GD2 With IL-15+iCaspase9 for Relapsed/Refractory Neuroblastoma or Relapsed/Refractory Osteosarcoma
The body has different ways of fighting infections and disease. No single way seems perfect for fighting cancer. This research study combines two different ways of fighting disease: antibodies and T cells.
- Trial name
- NCT03721068
- Testing
- iC9.GD2.CAR.IL-15 T-cells, Cyclophosphamide, Fludarabine
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Leigh Syndrome
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
- Trial name
- NCT01721733
- Testing
- EPI-743 15 mg/kg, EPI-743 5 mg/kg
- Where
- 4 sites in United States
- Volunteers
- 35 people
- Sponsor
- PTC Therapeutics
Ataxia Telangiectasia, Leukemia
Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a multisystem disease with diverse manifestations, including progressive neurodegeneration, immunodeficiency, respiratory disease, and genomic instability.
- Conditions
- Ataxia Telangiectasia, Leukemia, Lymphoma
- Trial name
- NCT04037189
- Where
- Israel
- Volunteers
- 250 people
- Sponsor
- Rabin Medical Center
Gaucher Disease Type 3
Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)
A 96-week, open-label, Phase 2 study to evaluate the efficacy and safety of Nizubaglustat (AZ-3102) in patients with Gaucher disease type 3 (GD3).
- Trial name
- NCT07715084
- Testing
- AZ-3102
- Where
- 7 sites in India, Pakistan and 1 more
- Volunteers
- 20 people
- Sponsor
- Azafaros B.V.
Gaucher Disease, Patient Reported Outcome
Digital Health Platform Customized for Patients With Gaucher Disease
The entry of digitization into the world in recent years is helping the health care system to operate more efficiently than in the past and has increased the participation of patients and their families in managing their health…
- Trial name
- NCT04997772
- Testing
- Digital Gaucher Platform
- Where
- Israel
- Volunteers
- 80 people
- Sponsor
- Shoshana Vilk
Fabry Disease
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific…
- Trial name
- QoLUF (NCT07560956)
- Testing
- Qualitative Interview
- Where
- Sweden
- Volunteers
- 35 people
- Sponsor
- Vastra Gotaland Region
Urea Cycle Disorders
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Treatment with liver cell infusion for children with urea cycle disorders (UCD).
- Trial name
- NCT01195753
- Testing
- HHLivC
- Where
- 5 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Cytonet GmbH & Co. KG
Acid Sphingomyelinase Deficiency (ASMD)
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)
Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these…
- Trial name
- NCT07274826
- Where
- Egypt
- Volunteers
- 7 people
- Sponsor
- Sohag University
Phenylketonuria
Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises
This study will be the first in the literature to evaluate the relationship between aerobic and resistance exercises, plasma amino acid levels, metabolic control of patients, and the metabolic response to exercise with different…
- Trial name
- NCT07526909
- Testing
- Aerobic Exercise, Resistance Exercise, Water
- Where
- Turkey (Türkiye)
- Volunteers
- 10 people
- Sponsor
- Hacettepe University
Phenylketonuria
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children.
- Trial name
- NCT00065299
- Testing
- Restricted phenylalanine diet
- Where
- 3 sites in United States
- Volunteers
- 572 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Wilson Disease, Generalized Epilepsy
Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients
Generalized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the…
- Trial name
- NCT04965571
- Testing
- genetic test
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Neurodegenerative Diseases, Alzheimer Disease
Sociodemographic Factors and Criminal Behaviour Preceding Neurodegenerative Disease - Retrospective Register Study
In this retrospective register study, clinically classified individuals with neurodegenerative disease from the years 2010-2021 will be verified from the clinical records from KUH and Oulu University Hospital (OUH).
- Conditions
- Neurodegenerative Diseases, Alzheimer Disease, Frontotemporal Dementia, Lewy Body Disease
- Trial name
- DEGERWD (NCT06209515)
- Where
- Finland
- Volunteers
- 61,292 people
- Sponsor
- Kuopio University Hospital
ESRD, Fabry Disease
Kidney Information Network for Disease Research and Education
In this study, Investigators will conduct a prospective cohort study of dialysis patients by collecting research-quality information on patient characteristics, comorbid diseases and laboratory markers used in routine practice…
- Conditions
- ESRD, Fabry Disease, Rare Diseases, Kidney Diseases
- Trial name
- KINDRED (NCT03321604)
- Where
- United States
- Volunteers
- 338 people
- Sponsor
- Massachusetts General Hospital
Turner Syndrome, Post-menarcheal Adolescents
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia
- Trial name
- NCT04948658
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Friedreich Ataxia
An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia
An open label study designed to evaluate the safety, PK, PD, and clinical effects of long-term daily administration of CTI-1601 enrolling adolescent and adult patients with FRDA who have participated in a prior clinical study of…
- Trial name
- NCT06447025
- Testing
- CTI-1601
- Where
- 10 sites in United States
- Volunteers
- 85 people
- Sponsor
- Larimar Therapeutics, Inc.
Metachromatic Leukodystrophy (MLD)
A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
The main aim of this study is to learn about metachromatic leukodystrophy (MLD) in children and teenagers in Spain. This includes checking the number of new MLD cases and the frequency of children with MLD in 2022 in Spain.
- Trial name
- mECHromatic (NCT05755568)
- Testing
- No Intervention
- Where
- 10 sites in Spain
- Sponsor
- Takeda
Phenylketonuria
A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Sapropterin dihydrochloride (subsequently referred to as sapropterin) (Kuvan®) was approved by the FDA for the treatment of hyperphenylalaninemia in 2007.
- Trial name
- NCT00789568
- Testing
- sapropterin dihydrochloride, Moxifloxacin
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- BioMarin Pharmaceutical
Tyrosinosis, Hepatorenal Tyrosinemia
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
- Conditions
- Tyrosinosis, Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, Fah Deficiency
- Trial name
- BioTyrosin (NCT03284658)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
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