Clinical trials: Albinism, open to volunteers
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)
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
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Gastrointestinal Stromal Tumor of Rectum
Preoperative Imatinib Mesylate Combined With Rectal-sparing Surgery in Patients With c-KIT Gene-mutant Rectal GIST
Prior to the implementation of preoperative imatinib mesylate therapy, a considerable percentage (ranging from 34.5% to 67.5%) of individuals diagnosed with rectal gastrointestinal stromal tumors (GIST) underwent abdominoperineal…
- Trial name
- PIRKER (NCT05970900)
- Testing
- Imatinib Mesylate, Local resection
- Where
- China
- Volunteers
- 23 people
- Sponsor
- Fujian Medical University Union Hospital
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
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
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
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
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
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
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
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)
Gastrointestinal Stromal Tumors, Small-cell Lung Cancer
A Study of the c-Kit Specific Antibody-Drug Conjugate NN3201 for Advanced and/or Metastatic Solid Tumors Known to Express c-Kit
This open-label clinical trial will evaluate the safety and tolerability of NN3201 in subjects with advanced and/or metastatic solid tumors known to express c-Kit.
- Conditions
- Gastrointestinal Stromal Tumors, Small-cell Lung Cancer, Adenoid Cystic Carcinoma, Uveal Melanoma
- Trial name
- NCT06805825
- Testing
- NN3201
- Where
- 5 sites in United States
- Volunteers
- 67 people
- Sponsor
- Novelty Nobility, Inc.
Inherited Epidermolysis Bullosa, Ichthyosis
FARD (RaDiCo Cohort) (RaDiCo-FARD)
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical)…
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti
- Trial name
- FARD (NCT05954416)
- Where
- 15 sites in France
- Volunteers
- 900 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cannabinoid Hyperemesis Syndrome
Haloperidol For Outpatient Symptom Management in Patients Diagnosed With Cannabinoid Hyperemesis Syndrome in the Emergrency Department
Patients diagnosed with cannabinoid hyperemesis syndrome that are safe for discharge from the emergency department will be sent an outpatient prescription for haloperidol to be used as needed at home.
- Trial name
- NCT07726069
- Testing
- Haloperidol
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Illinois at Chicago