Clinical trials: Albinism
Disaster, Vulnerable Populations
Korean Translation and Validation of the K-HEPI in NYC
Nurses Taking on Readiness Measures (N-TORM) is an innovative nurse-driven household emergency preparedness intervention modeled after an existing community intervention provided by emergency management personnel.
- Trial name
- NCT05544578
- Testing
- Nurses Taking On Readiness Measures (N- TORM)
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hunter College of City University of New York
Apoptotic Signal Pathways in Endometrial Hyperplasia
Apoptotic Signaling Pathways in Rats With Endometrial Hyperplasia
The purpose of the study is to determine apoptotic signaling pathways such as Survivin, Bcl-2, Bax, c-Myc and caspase-9 expression levels in rats model with iatrogenic endometrial hyperplasia after metformin and…
- Trial name
- NCT02872818
- Testing
- 17β estradiol hemihydrate, Metformin, medroxyprogesterone acetate
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Kayseri Education and Research Hospital
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Oculocutaneous Albinism, Mutation
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified.
- Trial name
- GENALB (NCT04068961)
- Testing
- Genetic analyzes
- Volunteers
- 64 people
- Sponsor
- University Hospital, Bordeaux
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Mastocytosis
Molecular Mechanisms and Diagnosis of Mastocytosis
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs.
- Trial name
- NCT00336076
- Testing
- Collection of blood and bone marrow
- Where
- United States
- Volunteers
- 136 people
- Sponsor
- University of Michigan
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Albinism, Ocular
Functional Impairment in Albinism
Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production.
- Trial name
- PLAIB (NCT06345976)
- Testing
- questionnaire
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Albinism, Ocular
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme
- Trial name
- ALAFOR (NCT03959605)
- Testing
- blood sample for genetic test, Ophtalmological examination
- Where
- France
- Volunteers
- 48 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Chediak Higashi Syndrome, Chronic Granulomatous Disease
Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders
This study will try to determine what causes learning, behavioral and emotional problems in children with chronic granulomatous disease (GCD) and other phagocyte disorders.
- Conditions
- Chediak Higashi Syndrome, Chronic Granulomatous Disease, Job's Syndrome, Leukocyte Disorder
- Trial name
- NCT00005933
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Oculocutaneous Albinism (OCA)
Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
Oculocutaneous albinism (OCA) is the most common type of albinism. People with OCA have little or no pigment (melanin) in their eyes, skin, and hair.
- Trial name
- NCT07313618
- Testing
- JWK010 gene therapy
- Where
- China
- Volunteers
- 18 people
- Sponsor
- West China Hospital
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Immune Deficiency, Immune Dysregulation Disorder
Allergy and Immunology Natural History Study
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation.
- Conditions
- Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
- Trial name
- NCT05584488
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Albinism, Oculocutaneous Albinism
Vision Response to Dopamine Replacement
The purpose of the study is to evaluate and document physiologic and functional changes in visual performance and retinal function of patients diagnosed with albinism (a dopamine deficiency state) following a trial of oral…
- Trial name
- NCT01663935
- Testing
- Levodopa/carbidopa
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Wisconsin, Madison
Fovea Plana, Albinism
Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes. Ophthalmological manifestations are a constant feature of this disease.
- Trial name
- APOGEE (NCT04658381)
- Testing
- Genetic analysis, Ophthalmologic exam
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
SCID, Omenn's Syndrome
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
This is a standard of care treatment guideline for allogeneic hematopoetic stem cell transplant (HSCT) in patients with primary immune deficiencies.
- Conditions
- SCID, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome
- Trial name
- NCT01652092
- Testing
- Alemtuzumab 0.3 mg, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Masonic Cancer Center, University of Minnesota