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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Cancer in Inherited Bone Marrow Failure SyndromesBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Shwachman-Diamond syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, exocrine pancreatic insufficiency, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, lipomatosis, metabolic disease, pancreas disorder, pure red-cell aplasia, skin disorderRecruitingNot stated2026-10-08NCT00027274
Regenerative Medicine for Joint Hypermobility and InstabilityCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, hypermobility type, Hemic and Lymphatic Diseases, Hypermobility, Joint, Joint Dislocations, Joint Instability, Musculoskeletal Pain, Neurologic Manifestations, Pain, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin Abnormalities, Skin and Connective Tissue Diseases, Sprains, Sprains and Strains, arthropathy, cardiovascular disorder, chronic pain syndrome, connective tissue disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypermobility spectrum disorder, injury, muscle tissue disorder, musculoskeletal system disorder, skin disorder, vascular disorder, vascular hemostatic diseaseNot yet recruitingPhase 1 / Phase 22026-10-06NCT07688096
A Study to Evaluate ENERGI-F703EB Cream in Epidermolysis BullosaCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, connective tissue disorder, epidermolysis bullosa, epidermolysis bullosa dystrophica, epidermolysis bullosa simplex, hereditary disease, hereditary skin disorder, junctional epidermolysis bullosa, skin disorder, vesiculobullous skin diseaseRecruitingPhase 22026-10-05NCT07858422
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 DeficiencyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, arterial calcification of infancy, autosomal recessive hypophosphatemic rickets, autosomal recessive inherited pseudoxanthoma elasticum, cardiovascular disorder, connective tissue disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypophosphatemic rickets, autosomal recessive, 1, skin disorder, vascular disorder, vascular hemostatic diseaseActive, not recruitingPhase 12026-09-29NCT05734196
Neurocutaneous Syndromes in Children: Prevalence and Clinical CharacteristicsAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Skin Abnormalities, Skin and Connective Tissue Diseases, Sturge-Weber syndrome, angiomatosis, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, ectodermal dysplasia syndrome, hamartoma, hemangioma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, skin disorder, tuberous sclerosis, vascular cancer, vascular disorderNot yet recruitingNot stated2026-09-28NCT07843823
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-09-28NCT07538583
A Study to Assess the Incidence of Skin Cancers in Patients With Epidermolysis Bullosa Receiving FilsuvezCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, connective tissue disorder, epidermolysis bullosa, epidermolysis bullosa dystrophica, hereditary disease, hereditary skin disorder, junctional epidermolysis bullosa, skin disorder, vesiculobullous skin diseaseRecruitingNot stated2026-09-28NCT06423573
ORACLE: A Long-term Follow-up Study to Evaluate the Safety of GT005 in Participants With Geographic Atrophy Secondary to Age-related Macular Degeneration Treated in a Gyroscope-sponsored Antecedent StudyEye Diseases, Hereditary, Geographic Atrophy, Skin Abnormalities, Skin and Connective Tissue Diseases, connective tissue disorder, eye disorder, macular degeneration, primary anetoderma, retinal degeneration, retinal disorder, skin disorderEnrolling by invitationPhase 22026-09-28NCT05481827
COG+OT Telerehabilitation for Adults With Subjective Cognitive ComplaintsCognition Disorders, Cognitive Dysfunction, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ehlers-Danlos syndrome, Fatigue, Hemic and Lymphatic Diseases, Mental Fatigue, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin Abnormalities, Skin and Connective Tissue Diseases, cardiovascular disorder, cognitive disorder, connective tissue disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, psychiatric disorder, skin disorder, vascular disorder, vascular hemostatic diseaseNot yet recruitingNot applicable2026-09-21NCT07743229
Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, skin disorderRecruitingPhase 12026-09-10NCT07628972
An Open Label Extension Safety Study to Evaluate SD-101 in Epidermolysis BullosaCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, epidermolysis bullosa, hereditary disease, hereditary skin disorder, skin disorder, vesiculobullous skin diseaseNot yet recruitingPhase 32026-09-09NCT07482813
Emerging Indications for Hyperbaric Oxygen TreatmentArterial Occlusive Diseases, Axonotmesis, Bacterial Infections and Mycoses, CNS demyelinating autoimmune disease, Clostridium Enterocolitis, Clostridium difficile colitis, Clostridium infectious disease, Cold Injury, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Conjunctival Diseases, Craniocerebral Trauma, Crohn disease, Crohn ileitis, Digestive System Diseases, Digestive System Fistula, Ear Diseases, Embolism and Thrombosis, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fistula, Genital Diseases, Ileal Diseases, Infections, Invasive Fungal Infections, Male Urogenital Diseases, Necrosis, Neurologic Manifestations, Nonarteritic Anterior Ischemic Optic Neuropathy, Nutritional and Metabolic Diseases, Optic Neuropathy, Ischemic, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Postoperative Complications, Raynaud disease, Rectovaginal Fistula, Sensation Disorders, Signs and Symptoms, Skin Abnormalities, Skin Ulcer, Skin and Connective Tissue Diseases, Urogenital Abnormalities, Urogenital Diseases, Vaginal Fistula, Venous Thrombosis, anal fistula, autoimmune disease, autoimmune disorder of the nervous system, bacterial infectious disease, bone disorder, branch retinal artery occlusion, calcinosis, calciphylaxis, calcium metabolic disease, cardiovascular disorder, central retinal vein occlusion, colitis, colonic disorder, cranial nerve neuropathy, decubitus ulcer, demyelinating disease, digestive system disorder, enteritis, enterocolitis, epidermolysis bullosa, eye disorder, female reproductive system disorder, frostbite, fungal infectious disease, gastroenteritis, graft versus host disease, gram-positive bacterial infections, hearing disorder, hereditary disease, hereditary skin disorder, hypospadias, immune system disorder, inclusion body myositis, inflammatory bowel disease, injury, intestinal disorder, intestinal fistula, livedoid vasculopathy, male reproductive system disorder, malignant otitis externa, metabolic disease, multiple sclerosis, muscle tissue disorder, musculoskeletal system disorder, myositis disease, nervous system disorder, nervous system injury, neuromuscular disease, optic nerve disorder, osteonecrosis, otorhinolaryngologic disease, penile disorder, peripheral vascular disease, pouchitis, prosthesis-related infectious disease, pterygium, pyoderma, pyoderma gangrenosum, rectal disorder, retinal artery occlusion, retinal disorder, retinal vein occlusion, skin disorder, skin vascular disease, thrombotic disease, tinnitus, ulcerative colitis, vaginal disorder, vascular disorder, vesiculobullous skin diseaseNot yet recruitingPhase 42026-09-09NCT07240649
Patient Study to Evaluate the Safety and Emollient Performance of Doublebase Once in the Treatment of IchthyosisCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, ichthyosis, keratosis, skin disorderNot yet recruitingNot applicable2026-09-08NCT07783165
Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis BullosaCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Pathological Conditions, Signs and Symptoms, Pruritus, Signs and Symptoms, Skin Abnormalities, Skin Manifestations, Skin and Connective Tissue Diseases, epidermolysis bullosa, hereditary disease, hereditary skin disorder, skin disorder, vesiculobullous skin diseaseRecruitingPhase 32026-09-04NCT07482787
Clinical Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-08-31NCT06953466
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-08-31NCT05789056
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 DeficiencyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, arterial calcification of infancy, autosomal recessive inherited pseudoxanthoma elasticum, cardiovascular disorder, connective tissue disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypophosphatemic rickets, autosomal recessive, 2, skin disorder, vascular disorder, vascular hemostatic diseaseActive, not recruitingPhase 22026-08-28NCT06462547
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 12026-08-27NCT06539507
Impact of Body Positioning on EndoFLIP Measurements: A Comparative Study of Supine and Left Lateral Decubitus PositionsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deglutition Disorders, Digestive System Diseases, Eosinophilia, Esophageal Stenosis, Esophageal Stricture, Hemic and Lymphatic Diseases, Hypersensitivity, Immediate, Pharyngeal Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, achalasia, digestive system disorder, dyskinesia of esophagus, eosinophilic esophagitis, epidermolysis bullosa, esophageal disorder, esophagitis, gastroenteritis, hematologic disorder, hereditary disease, hereditary skin disorder, immune system disorder, leukocyte disorder, otorhinolaryngologic disease, skin disorder, vesiculobullous skin diseaseRecruitingNot applicable2026-08-24NCT07780981
STABLE Pilates for HypermobilityCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, hypermobility type, Hemic and Lymphatic Diseases, Neurologic Manifestations, Pain, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin Abnormalities, Skin and Connective Tissue Diseases, cardiovascular disorder, connective tissue disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, skin disorder, vascular disorder, vascular hemostatic diseaseRecruitingNot applicable2026-08-19NCT07464093
A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa SimplexCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, epidermolysis bullosa, epidermolysis bullosa simplex, hereditary disease, hereditary skin disorder, skin disorder, vesiculobullous skin diseaseRecruitingPhase 22026-08-13NCT07027345
A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-studyCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, connective tissue disorder, epidermolysis bullosa, epidermolysis bullosa dystrophica, hereditary disease, hereditary skin disorder, junctional epidermolysis bullosa, skin disorder, vesiculobullous skin diseaseRecruitingPhase 22026-08-12NCT06594393
Filsuvez in Moderate-to-Severe Epidermolysis Bullosa SimplexCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, epidermolysis bullosa, epidermolysis bullosa simplex, hereditary disease, hereditary skin disorder, skin disorder, vesiculobullous skin diseaseNot yet recruitingPhase 22026-08-10NCT07756138
Phase 4 Master Protocol for Patients Prescribed Prademagene Zamikeracel for the Treatment of WoundsCollagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, connective tissue disorder, epidermolysis bullosa, epidermolysis bullosa dystrophica, hereditary disease, hereditary skin disorder, skin disorder, vesiculobullous skin diseaseNot yet recruitingPhase 42026-08-06NCT07717736
Nucleoside Therapy in Patients With Telomere Biology DisordersBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fibrosis, Hemic and Lymphatic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Revesz syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, interstitial lung disease, lung disorder, pulmonary fibrosis, respiratory system disorder, skin disorderRecruitingPhase 12026-08-04NCT06817590