NIAID Clinical Trials Update – Rare Diseases

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NIAID Clinical Trials Update – Rare Diseases 

Rare Disease Day, February 28, is a time to reflect on the impact that rare diseases have on people and 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 immune diseases with links to full study titles, descriptions, and locations.

Studies of Autoimmune Lymphoproliferative Syndrome (ALPS)

• 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.
• Fluorodeoxyglucose Imaging Studies to Detect Lymphoma (NCT01672918) sees how well imaging studies can distinguish between swollen lymph nodes caused by ALPS or by lymphoma.

Studies of Chronic Granulomatous Disease (CGD)

• Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System (NCT01063309) studies the prevalence of atherosclerosis in patients with immune system disorders, compared to healthy people.
• Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease (NCT01851460)seeks to determine if a procedure called radiofrequency ablation is a safe and effective treatment for CGD-related liver abscesses.
• Gene Therapy for Chronic Granulomatous Disease (NCT00394316) tests the effectiveness and safety of gene therapy, an experimental treatment designed to help increase the number of blood cells to fight infections in a more normal way.
• Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease (NCT01147042) compares changes in the immune system caused by interferon-gamma treatment for CGD in people to different mutations that cause the disease.

Studies of Hyperimmunoglobulin E Syndrome (Job’s Syndrome)

• Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection (NCT00006150)evaluates patients with hyperimmunoglobulin E recurrent infection to characterize the medical problems associated with this rare inherited disease, identify and treat complications, and perform tests to identify the gene, or genes, responsible for it.
• Study of Mycobacterial Infections (NCT00018044) compares the features of non-tuberculous mycobacterial infections to those of hyperimmunoglobulin E syndrome to better characterize the predisposition to mycobacterial infection.

Studies of Severe Combined Immunodeficiency (SCID)

• Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (NCT01306019) seeks to determine the safety and effectiveness of lentiviral gene transfer as a treatment for children and adolescents with X-linked severe combined immunodeficiency.
• Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (NCT01852071) will determine whether using a lentiviral vector will be more effective and safer at gene transfer to hematopoietic stem cells compared to previous gene transfer vectors.
• Natural History Study of SCID Disorders (NCT01186913) is a prospective evaluation of children with severe combined immune deficiency (SCID) and related disorders who are treated under a variety of protocols at participating institutions to identify variables contributing to the best outcomes for hematopoietic cell transplantation.
• Patients Treated for SCID (1968-2010) (NCT01346150) collects information on patients’ general health, psychological and developmental health, and the current status of their immune systems to help better define future approaches to primary immune deficiency treatments.

Studies of Rare Fungal Infections

• Studies of Disorders With Increased Susceptibility to Fungal Infections (NCT01222741) collects blood and other biological samples to study immune disorders that make people more susceptible to fungal infections.
• 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 and why patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome develop mucocutaneous fungal infection.
• Evaluation and Follow-up of Patients With Cryptococcosis (NCT00001352) is investigating why some people who are healthy become infected with cryptococcosis and how physicians can treat this disease more effectively.

Studies of Multiple or Other Rare Immune Diseases

• A Study to Investigate Mepolizumab in the Treatment of Eosinophilic Granulomatosis With Polyangiitis (NCT02020889) investigates the effectiveness and safety of mepolizumab compared with placebo in people with relapsing or refractory Eosinophilic Granulomatosis with Polyangiitis (EGPA). Potential volunteers should contact the call center for study locations in the United States.
• Evaluation of Patients With Immune Function Abnormalities (NCT00128973) evaluates patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
• Genetic Studies of Chronic Active Epstein-Barr Disease (NCT00032513) seeks to identify genetic mutations responsible for chronic active Epstein-Barr disease and to learn more about the natural history of the disease.
• Participation in a Research Registry for Immune Disorders (NCT01953016) collects data on people with primary immune deficiency disorders so that researchers can see if these disorders are increasing and to learn how the disorders are diagnosed and treated.
• Detection and Characterization of Infections and Infection Susceptibility (NCT00404560) examines the causes of immune disorders affecting white blood cells and tries to develop better means of diagnosis and treatment of these conditions.
• Natural History Study of GATA2 Deficiency and Related Disorders (NCT01905826) seeks to improve the understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future.
• Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders (NCT00895271) collects samples of skin cells to determine whether these cells can be modified to create a new kind of personalized gene therapy in the future.
• Use of G-CSF to Obtain Blood Cell Precursors (NCT00001405) studies the techniques needed to develop gene therapy or other treatments for certain inherited immune system diseases.
• 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.
• Studies in the Pathogenesis of Systemic Capillary Leak Syndrome (SCLS, Clarkson syndrome)(NCT00936325) focuses on the pathogenesis of SCLS to identify biological factors and/or genetic and molecular events that may predispose to SCLS episodes.
• Arikace for Nontuberculous Mycobacteria (NCT01315236) evaluates the effectiveness, safety, and tolerability of the inhaled antibiotic Arikace in treating recalcitrant nontuberculous mycobacterial lung disease.
• Cross-sectional Characterization of Idiopathic Bronchiectasis (NCT01264055) looks for possible genetic links or risk factors for bronchiectasis.
• 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
• 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.
• Reducing the Side Effects of Standard Treatment of Loa Loa Infection (NCT01111305) evaluates how effective reslizumab is in reducing the side effects of the standard drug therapy used to treat Loa loa infection.
• 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.
• Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation (NCT00852943)screens mast cells at the genetic and functional levels to characterize abnormalities, identify mutations, detect carrier states, and/or develop therapies.