Clinical trials: Albinism, Ocular
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)
Hurler Syndrome, Fanconi Anemia
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
This is a single arm, phase I study to assess the tolerability of abatacept when combined with cyclosporine and mycophenolate mofetil as graft versus host disease prophylaxis in children undergoing unrelated hematopoietic stem…
- Conditions
- Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01917708
- Testing
- Abatacept
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emory 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)
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
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
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
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
Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST)
Study to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored Study
The purpose of this study was to allow continued use of nilotinib in patients who were on nilotinib treatment in a Novartis-sponsored, Oncology Clinical Development \& Medical Affairs (CD\&MA) study and were benefiting from the…
- Conditions
- Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST), Acute Lymphoblastic Leukemia (ALL), Receptor Tyrosine Kinase (KIT) Mutated Melanoma
- Trial name
- NCT01735955
- Testing
- Nilotinib
- Where
- 33 sites in United States, Austria and 14 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
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)
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, 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
Pulmonary Fibrosis, Healthy Volunteers
Analysis of Specimens From Individuals With Pulmonary Fibrosis
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination…
- Conditions
- Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT00084305
- Where
- United States
- Volunteers
- 315 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Indolent Systemic Mastocytosis
Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis
The objective of this study is to compare the safety and efficacy of masitinib (AB1010) to placebo in patients with mastocytosis with handicap.
- Trial name
- AB06006 (NCT00814073)
- Testing
- Masitinib, Best Supportive Care
- Where
- 24 sites in United States, France
- Volunteers
- 135 people
- Sponsor
- AB Science
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
Albinism
Trial of L-DOPA as a Treatment to Improve Vision in Albinism
This project will evaluate the effect of two doses of levodopa (L-DOPA) in a randomized, placebo-controlled, double-masked clinical trial to see if vision can be improved in individuals with albinism.
- Trial name
- NCT01176435
- Testing
- Levodopa
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Minnesota
GIST - Gastrointestinal Stromal Tumor, KIT Gene Mutation
Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment
Gastrointestinal stromal tumors (GISTs) are mostly driven by c-kit or PDGFRA mutations, and commonly occur in the stomach and small intestine.
- Trial name
- NCT07559864
- Testing
- physician-selected treatment, Regorafenib + Envafolimab
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Jian Li
Indolent Systemic Mastocytosis
Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis Unresponsive to Optimal Symptomatic Treatment
The purpose of this study is to evaluate the efficacy and safety of oral masitinib versus placebo in the treatment of patients suffering from smouldering or indolent systemic mastocytosis with severe symptoms of mast cell…
- Trial name
- NCT04333108
- Testing
- Masitinib, Best Supportive Care
- Where
- 17 sites in France, Germany and 6 more
- Volunteers
- 140 people
- Sponsor
- AB Science
Piebaldism, Segmental Vitiligo
Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
Autologous epidermal cell suspension grafting is an effective method of surgical treatment in vitiligo, which is suitable for treating larger areas with better cosmetic results as compared to other grafting methods.
- Trial name
- NCT01640678
- Testing
- ReCell epidermal cell suspension grafting, CO2 laser abrasion + UV-therapy
- Where
- Netherlands
- Volunteers
- 10 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Albinism, Vision Loss
Nitisinone for Type 1B Oculocutaneous Albinism
Background: Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes.
- Trial name
- NCT01838655
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)