Clinical trials: Genetic Conditions
Post-COVID-19 Condition, Ulcerative Colitis
Emerging Indications for Hyperbaric Oxygen Treatment
This study will evaluate the effectiveness of hyperbaric oxygen therapy (HBOT) on treating emerging indications (i.e., conditions that have shown to potentially benefit from HBOT) using the Multicenter Registry for Hyperbaric…
- Conditions
- Post-COVID-19 Condition, Ulcerative Colitis, Crohn Disease, Calciphylaxis
- Trial name
- NCT07240649
- Testing
- Hyperbaric oxygen treatment (HBOT), 100% Oxygen
- Volunteers
- 100 people
- Sponsor
- Jay C. Buckey Jr.
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
Prader-Willi Syndrome, Sarcopenia
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived…
- Conditions
- Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
- Trial name
- PWS (NCT06448871)
- Testing
- Ultrasound assessment of the right lower extremity muscles, Dual-energy X-ray absorptiometry (DXA) scan
- Where
- Taiwan
- Volunteers
- 49 people
- Sponsor
- Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm
Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment…
- Conditions
- Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma
- Trial name
- NCT04500548
- Testing
- Biospecimen Collection, Ipilimumab, Nivolumab
- Where
- 9 sites in United States, Canada
- Sponsor
- National Cancer Institute (NCI)
Prostatitis, Cystitis, Interstitial
Linkage Analysis in Interstitial Cystitis
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical…
- Conditions
- Prostatitis, Cystitis, Interstitial, Urinary Bladder, Overactive, Chronic Pelvic Pain Syndrome
- Trial name
- IC (NCT00675298)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage
HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency
The objective of the Expanded Access Program is to provide HEMOLEVEN, a replacement coagulation factor XI, to patients with severe inherited factor XI deficiency where, in the opinion of the treating physician, the benefits of…
- Conditions
- Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery
- Trial name
- EAP (NCT01701947)
- Testing
- Hemoleven
- Where
- United States
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1)
Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)
The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and…
- Conditions
- Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1), Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- NCT06809049
- Testing
- Music and movement education
- Where
- Canada
- Volunteers
- 13 people
- Sponsor
- Hanns Lochmuller
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Wilms Tumor, Relapse
The Use of Immunohistochemical Staining for the Prediction of Wilms Tumour Progression and Recurrence
Wilms' tumour staging and grading are used to give an idea about the prognosis. Advanced staging, diffuse anaplasia, predominant blastemal elements and lymph node invasion are indicators of poor prognosis.
- Conditions
- Wilms Tumor, Relapse, Death
- Trial name
- NCT04758455
- Testing
- P53, Ki67 and Cyclin A IHC.
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Mansoura University
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Sickle Cell Disease
Sickle Cell Pro-Inflammatory Response to Interval Training Study
Recommendations for exercise prescription currently do not exist for individuals with sickle cell anemia (SCA) despite the known impact that SCA-related complications has on physical functioning and fitness.
- Trial name
- SPRINTS (NCT03653676)
- Testing
- Exercise Test (CIIT)
- Where
- 3 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Basal Cell Carcinoma, Keratosis Palmaris et Plantaris
The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases
This is a continuing study which evaluates the long-term safety and efficacy of oral acitretin in an open manner in the treatment of psoriasis, cutaneous disorders of keratinization, multiple basal cell carcinomas and other…
- Conditions
- Basal Cell Carcinoma, Keratosis Palmaris et Plantaris, Psoriasis
- Trial name
- NCT00005660
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Cancer Institute (NCI)
Retinitis Pigmentosa, Usher Syndromes
Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
This study is aimed to characterize Russian population of Retinitis Pigmentosa
- Trial name
- RU-RP (NCT03901391)
- Testing
- Whole Exome Sequencing
- Where
- 2 sites in Russia
- Volunteers
- 130 people
- Sponsor
- Sensor Technology for Deafblind
Chronic Granulomatous Disease
Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease
The overall goal of the study is to investigate the functional, biochemical, and gene expression effects of Interferon-gamma 1-b (IFN-γ) on the neutrophils of patients with Chronic Granulomatous Disease (CGD).
- Trial name
- NCT03548818
- Testing
- Interferon Gamma-1B
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Colorado, Denver
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