NIAID Clinical Trials Update – Rare Diseases

NIAID Clinical Trials Update – Rare Diseases 

On February 28, NIAID will commemorate the sixth annual Rare Disease Day, a time to reflect on the impact that rare diseases have on people and on the importance of medical research to better understand and treat these diseases. There are approximately 7,000 rare diseases identified in the United States, most of which are genetic in origin.

The following are selected NIAID-sponsored clinical trials of rare diseases with links to full study titles, descriptions, and locations.

Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways (NCT01164241) explores the genetic, immunologic, structural, and microbiologic abnormalities of these diseases. People ages 1 month to 80 years with or without moderate to severe atopic dermatitis or congenital disorder associated with atopy or affecting an atopic pathway may be eligible.

Studies in the Pathogenesis of Systemic Capillary Leak Syndrome (SCLS, Clarkson syndrome) (NCT00936325) focuses on the pathogenesis of SCLS. Subjects with documented episodes of capillary leak will be evaluated in order to correlate both clinical and laboratory features that are typical of SCLS. The goal is to identify biological factors and/or genetic and molecular events that may predispose to SCLS episodes. We plan to enroll up to 210 subjects, family members and healthy volunteers in this study. We anticipate that our findings may be a first step toward the development of new targeted therapies.

Natural History of Individuals With Immune System Problems That Lead to Fungal Infections (NCT01386437) investigates why some people are susceptible to invasive aspergillosis without underlying immune deficiency. In addition, this study investigates why patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome develop mucocutaneous fungal infection.

Study of Mycobacterial Infections (NCT00018044) compares the features of non-tuberculous mycobacterial infections with those of hyperimmunoglobulin E syndrome, also called Job’s syndrome, to better characterize the predisposition to mycobacterial infection. Patients with diagnosed or suspected non-tuberculous mycobacterial infection, cystic fibrosis, or Job’s syndrome may be eligible for this study.

Arikace for Nontuberculous Mycobacteria (NCT01315236) is enrolling people ages 18 to 85 who have been diagnosed with treatment refractory pulmonary nontuberculous mycobacterial lung disease with evidence of nodular bronchiectasis and/or cavitary disease. This study evaluates the effectiveness and safety of Arikace treatment.

Cross-sectional Characterization of Idiopathic Bronchiectasis (NCT01264055) looks for possible genetic links or risk factors for bronchiectasis. People at least 18 years of age who have a chronic cough and who have had a CT scan that revealed signs of bronchiectasis may be eligible to participate in this clinical trial.

Evaluation and Follow-up of Patients With Cryptococcosis (NCT00001352) is investigating why some people who are healthy become infected with cryptococcosis and how we can treat this disease more effectively. People 18 years of age and older who have previously had or currently have cryptococcosis or cryptcococcal meningitis may be eligible to participate in this clinical trial.

Genetic Analysis of Immune Disorders (NCT00001467) studies the genetic defects of the immune system that cause failure of host defenses against infections or autoimmune diseases to increase knowledge about the immune system and what causes immune deficiencies. Members of families with known or suspected genetic basis to immune disorders may be eligible.

Genetic Studies of Chronic Active Epstein-Barr Disease (NCT00032513) seeks to identify genetic mutations responsible for Chronic Epstein-Barr Virus (CAEBV).

Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death (NCT00246857) determines the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Patients of any age with known or suspected inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome and their blood relatives may be eligible for this study.

Study of Autoimmune Lymphoproliferative Syndrome (ALPS) (NCT00001350) is a family based natural history protocol allowing for patients and relatives of patients to be screened for ALPS and related disorders of apoptosis.

Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection (NCT00006150) evaluates patients with hyperimmunoglobulin E recurrent infection in order to characterize the medical problems associated with this rare inherited disease, identify and treat complications, and do tests to identify the gene, or genes responsible for it.

Interleukin-7 (CYT107) Treatment of Idiopathic CD4 Lymphocytopenia: Expansion of CD4 T Cells (ICICLE) (NCT00839436) is enrolling people at least 18 years of age who have been diagnosed with idiopathic CD4 lymphocytopenia to evaluate the safety and immune-boosting ability of interleukin 7.

Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With XSCID (NCT01306019) determines the safety and effectiveness of lentiviral gene transfer as a treatment for children and adolescents with X-linked severe combined immunodeficiency (XSCID). People ages 2 to 20 years who have XSCID related to a defect in the IL2RG gene and who are not currently under treatment with strong immune-modulating or chemotherapy drugs may be eligible for this study.

Reducing the Side Effects of Standard Treatment of Loa Loa Infection (NCT01111305) is enrolling people ages 18 to 65 years of age who have lived in or traveled to Loa-endemic regions in central and western Africa for at least 1 month. This clinical trial evaluates how effective reslizumab is in reducing the side effects of the standard drug therapy used to treat Loa loa.

Rituximab for Treatment of Systemic Sclerosis-Associated Pulmonary Arterial Hypertension (SSc-PAH) (NCT01086540) evaluates the effect of rituximab on clinical disease progression in patients with SSc-PAH when compared to placebo. Individuals 18 to 75 years of age who have a clinical diagnosis of systemic sclerosis (either limited or diffuse cutaneous disease) with secondary pulmonary arterial hypertension may be eligible to participate in this clinical trial.

Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease (NCT01147042) compares the changes in the immune system caused by interferon-gamma treatment for chronic granulomatous disease (CGD) in individuals with different mutations that cause CGD.