Clinical trials: Rare Disease
Mitochondrial Myopathy
Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy
OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.
- Trial name
- NCT00004770
- Testing
- thioctic acid
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.
Erythropoietic Protoporphyria (EPP)
Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
The purpose of this study is to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). People with EPP have skin sensitivity to sunlight and occasionally develop liver disease.
- Trial name
- NCT01880983
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Cystic Fibrosis
Phase I Randomized Study of Adeno-Associated Virus-CFTR Vector in Patients With Cystic Fibrosis
OBJECTIVES: I. Determine the maximum tolerated dose of recombinant adeno-associated virus-CFTR vector in patients with cystic fibrosis. II. Assess the safety of this gene therapy in these patients. III.
- Trial name
- NCT00004533
- Testing
- Adeno-associated virus-CFTR vector
- Volunteers
- 19 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain
Safety, Tolerability and Efficacy of NPI-001 in Patients With Hereditary Cystatin C Amyloid Angiopathy (HCCAA)
The study aims to measure safety, tolerability and biomarker-based efficacy of NPI-001 (AT-001) in Subjects with Hereditary Cystatin C Amyloid Angiopathy (HCCAA).
- Conditions
- Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain, Hemorrhage Cerebral
- Trial name
- HCCAA (NCT07716865)
- Testing
- NACA
- Where
- Iceland
- Volunteers
- 15 people
- Sponsor
- Arctic Therapeutics
Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor
Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Bone marrow transplantation may allow doctors to give higher doses of chemotherapy and kill more tumor cells.
- Conditions
- Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Head and Neck Cancer, Kidney Cancer
- Trial name
- NCT00002515
- Testing
- filgrastim, carboplatin, thiotepa
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Rare Diseases, Marfan Syndrome
Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are: 1.
- Trial name
- FACE (NCT05702476)
- Where
- Italy
- Volunteers
- 140 people
- Sponsor
- IRCCS Policlinico S. Donato
Undiagnosed Diseases, Rare Diseases
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist.
- Trial name
- NCT06595940
- Where
- Mauritius
- Volunteers
- 400 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cholestasis
Randomized Study of Tauroursodeoxycholic Acid in Prophylactic Therapy of Total Parenteral Nutrition Associated Cholestasis in Infants
OBJECTIVES: I. Determine whether infants treated with tauroursodeoxycholic acid (TUDCA) have a lower peak direct bilirubin, ALT, AST, glutamyltranspeptidase levels and a reduced duration of cholestasis compared to the…
- Trial name
- NCT00004410
- Testing
- tauroursodeoxycholic acid
- Where
- 3 sites in United States
- Volunteers
- 50 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Hereditary Ataxia
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies. II.
- Trial name
- NCT00004306
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Office of Rare Diseases (ORD)
Systemic Lupus Erythematosus
Randomized Study of Oral Contraceptives or Hormone Replacement Therapy in Women With Systemic Lupus Erythematosus
OBJECTIVES: I. Determine the effect of oral contraceptives containing low-dose synthetic estrogens and progestins on disease activity in premenopausal women with inactive, stable, or moderate systemic lupus erythematosus (SLE).
- Trial name
- NCT00006133
- Testing
- estradiol, ethinyl estradiol, medroxyprogesterone
- Where
- 17 sites in United States
- Volunteers
- 970 people
- Sponsor
- National Center for Research Resources (NCRR)
Limb Girdle Muscular Dystrophy Type 2C, Gamma-sarcoglycanopathy
Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C
The purpose of this trial is to study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C (gamma-sarcoglycanopathy).
- Trial name
- NCT01344798
- Testing
- AAV1-gamma-sarcoglycan vector injection
- Where
- France
- Volunteers
- 9 people
- Sponsor
- Genethon
Anemia, Hemolytic, Autoimmune, Felty Syndrome
Phase II Study of High-Dose Cyclophosphamide in Patients With Severe Autoimmune Hematologic Disease
OBJECTIVES: I. Determine the response rate and 1-year event-free survival in patients with severe autoimmune hematologic disease treated with high-dose cyclophosphamide.
- Conditions
- Anemia, Hemolytic, Autoimmune, Felty Syndrome, Purpura, Thrombocytopenic, Autoimmune Diseases
- Trial name
- NCT00010387
- Testing
- cyclophosphamide, filgrastim
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Johns Hopkins University
Diabetes Insipidus, Nephrogenic
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
- Trial name
- NCT00004360
- Testing
- chlorothiazide
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Parkinson Disease
Study of Clozapine for the Treatment of Psychosis in Patients With Idiopathic Parkinson's Disease
OBJECTIVES: I. Determine the efficacy and tolerability of clozapine in ameliorating psychosis in patients with idiopathic Parkinson's disease (PD). II.
- Trial name
- NCT00004826
- Testing
- clozapine
- Volunteers
- 60 people
- Sponsor
- Memorial Hospital of Rhode Island
Cushing's Syndrome
Study of Hypercortisolism in Cushing's Syndrome and Stress-Induced Pseudo-Cushing's Syndrome
OBJECTIVES: I. Determine whether Cushing's syndrome and stress-induced pseudo-Cushing's syndrome can be differentiated by evaluating endogenous corticotropin-releasing hormone activity.
- Trial name
- NCT00004343
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Rare Genetic Disorders
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.
- Trial name
- NCT02365376
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
Aplastic Anemia
Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia
OBJECTIVES: I. Compare outcome, including graft failure, graft versus host disease, and survival of HLA-identical sibling bone marrow transplants for aplastic anemia using cyclophosphamide with or without antithymocyte globulin…
- Trial name
- NCT00004474
- Testing
- Anti-thymocyte globulin, Cyclophosphamide, Bone marrow transplantation
- Where
- 4 sites in United States
- Volunteers
- 224 people
- Sponsor
- Roswell Park Cancer Institute