Systemic Sclerosis Clinical Trial
Official title:
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
OBJECTIVES: I. Determine whether defects in fibrillin-1 cellular processing are present in
the tsk1 mouse model that carries a known FBN1 gene rearrangement and in a population of
Choctaw Native American patients with systemic sclerosis who have a strong genetic
predisposition to the disease.
II. Determine the ultrastructural features of fibrillin-1 in these patients. III. Screen the
FBN1 gene for mutations beginning at the regions homologous to the tsk1 duplication and
latent transforming growth factor binding proteins in these patients and in an unaffected
Choctaw control group.
IV. Determine the correlation between fibrillin-1 abnormalities and clinical presentation,
autoantibodies, and ethnicity.
PROTOCOL OUTLINE:
Patients undergo punch skin biopsy obtained from the upper arm or back. Studies of
fibrillin-1 synthesis and cellular processing, and FBN1 mutational analysis, linkage
analysis, and genetic mapping are performed on the tissue samples. Patients from all major
US ethnic groups (Caucasian, Hispanic, African Americans) will be recruited for the study in
the next 2 years.
;
Primary Purpose: Screening
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT03274076 -
Evaluation of Tofacitinib in Early Diffuse Cutaneous Systemic Sclerosis (dcSSc)
|
Phase 1/Phase 2 | |
| Completed |
NCT04300426 -
Safety and Efficacy of Anaerobic Cultivated Human Intestinal Microbiome Transplantation in Systemic Sclerosis (ReSScue)
|
Phase 2 | |
| Recruiting |
NCT06058091 -
RY_SW01 Cell Injection Therapy in Systemic Sclerosis
|
Phase 1/Phase 2 | |
| Recruiting |
NCT04356755 -
Subcutaneous Injections of ASC to Heal Digital Ulcers in Patients With Scleroderma.
|
Phase 2 | |
| Suspended |
NCT06210945 -
Study to Evaluate the Safety, Tolerability, and Activity of CM-101 in Patients With Systemic Sclerosis
|
Phase 2 | |
| Not yet recruiting |
NCT05947682 -
Manufacturing of Allogeneic Adipose Tissue-derived Mesenchymal Stromal Cells for Treatment of Severe Systemic Sclerosis
|
N/A | |
| Not yet recruiting |
NCT05177380 -
Efficacy of a Personalized Rehabilitation Program of Facial Involvement in Systemic Sclerosis
|
N/A | |
| Not yet recruiting |
NCT04303208 -
Sirtuin 3 and Sirtuin 7 in Systemic Sclerosis
|
N/A | |
| Recruiting |
NCT02551042 -
CSL Behring Sclero XIII
|
Phase 2 | |
| Terminated |
NCT02243111 -
Detecting Pulmonary Arterial Hypertension (PAH) in Patients With Systemic Sclerosis (SSc) by Ultrasound
|
N/A | |
| Terminated |
NCT02246348 -
Evaluating Lung Doppler Signals in Patients With Systemic Sclerosis (SSc)
|
N/A | |
| Completed |
NCT01933334 -
Safety and Tolerability of Pirfenidone in Patients With Systemic SclerosisâRelated Interstitial Lung Disease (SSc-ILD) (LOTUSS)
|
Phase 2 | |
| Completed |
NCT01468792 -
Hemodynamic Changes in Connective Tissue Disease
|
N/A | |
| Terminated |
NCT00848107 -
Open-Label Study of Oral Treprostinil in Digital Ulcers
|
Phase 2 | |
| Completed |
NCT00984932 -
Effect of Rosuvastatin on Systemic Sclerosis-related Pulmonary Hypertension
|
Phase 3 | |
| Completed |
NCT00074568 -
Scleroderma Registry
|
||
| Not yet recruiting |
NCT06412614 -
Evaluation of Patients With Systemic Sclerosis Without Specific or Associated Autoantibodies
|
||
| Terminated |
NCT00622687 -
Effect of Different Iloprost Doses on Symptoms in Systemic Sclerosis
|
Phase 2 | |
| Recruiting |
NCT04464434 -
Upfront Autologous HSCT Versus Immunosuppression in Early Diffuse Cutaneous Systemic Sclerosis
|
Phase 4 | |
| Recruiting |
NCT04246528 -
SPIN Self-Management Feasibility Trial With Progression to Full-scale Trial (SPIN-SELF)
|
N/A |