Clinical trials: Albinism, Ocular
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
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
Chediak-Higashi Syndrome
Study of Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell…
- Trial name
- NCT00005917
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hermansky-Pudlak Syndrome (HPS)
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Trial name
- NCT00001456
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Oculocutaneous Albinism
Peripheral Serotonin and Albinism
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS).
- Trial name
- SEPIAs (NCT06138509)
- Testing
- Dosage of serotonin and metabolites, Blood parameters
- Where
- France
- Volunteers
- 160 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders
T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders
The hypothesis is to determine if a preparative regimen of busulfan, cyclophosphamide, and antithymocyte globulin (ATG) plus allogeneic stem cell transplantation will be effective in the treatment of immune deficiencies and…
- Conditions
- Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome
- Trial name
- NCT00176826
- Testing
- Stem Cell Transplant, Myeloablative conditioning regimen
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Immune Deficiency Disorders, Severe Combined Immunodeficiency
Immune Disorder HSCT Protocol
This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders.
- Conditions
- Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia
- Trial name
- NCT01821781
- Testing
- Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Washington University School of Medicine
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)
Rare Diseases, Albinism
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.
Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the…
- Conditions
- Rare Diseases, Albinism, Intellectual Disability
- Trial name
- LongEpi (NCT07400913)
- Testing
- Long-read sequencing
- Where
- France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Bordeaux
Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
The LUVIA study is a randomized placebo-controlled trial designed to investigate the effects of lutein and zeaxanthin supplementation on macular pigment and visual function in ocular or oculocutaneous albinism.
- Trial name
- LUVIA (NCT02200263)
- Testing
- Lutein plus Zeaxanthin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a…
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy
- Trial name
- NCT06491615
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- National Eye Institute (NEI)
Blood Coagulation Disorders
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
Congenital bleeding disorders characterized by abnormal platelet granules include Gray Platelet syndrome (GPS; defective alpha-granules), Hermansky-Pudlak syndrome (HPS; defective delta-granules), and combined alpha delta-storage…
- Trial name
- NCT00086476
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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, Albinism, Ocular
Visual Function and Ocular Pigmentation in Albinism
To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders.
- Conditions
- Albinism, Albinism, Ocular, Albinism, Oculocutaneous
- Trial name
- NCT00001153
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Eye Institute (NEI)
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
Hermansky Pudlak Syndrome
A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
- Trial name
- NCT02368340
- Testing
- Pulmonary function test, Chest CT, Sample collection
- Where
- 5 sites in United States
- Volunteers
- 55 people
- Sponsor
- Vanderbilt University