News About Clinical Trials
NORD shares information about opportunities to participate in clinical trials so that patients and their physicians may decide whether specific studies are appropriate for them. We do not endorse or recommend participation in any specific clinical trials.
The following is a brief sampling of current studies. For more comprehensive information about opportunities to participate in research, go to www.clinicaltrials.gov.
Alkaptonuria (AKU)
The developAKUre clinical study is evaluating the safety and efficacy of a new drug, Nitisinone, for patients with AKU. Clinical trial participants may be from anywhere in Europe (excluding United Kingdom) and must be aged 18 or over with a diagnosis of AKU and documented increase in urine or plasma HGA. Patients must be able to travel to be seen at the Liverpool Centre for AKU, UK (expenses will be covered). To receive further information, please contact patientrecruitment@akusociety.org and reference ‘developAKUre’.
Anaplastic Thyroid Cancer
For patients with advanced anaplastic thyroid cancer, Plexxikon is sponsoring a clinical trial of an oral investigational drug targeting the cancer microenvironment (cells recruited by the cancer that promote its growth and invasion). The investigational drug PLX3397 specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to ClinicalTrials.gov identifier: NCT01004861.
Craniosynostosis
Researchers at the University of California, Irvine Medical Center, are studying the causes of craniosynostosis with the ultimate goal of identifying genes and environmental factors causing this condition. They are recruiting families with at least one child with craniosynostosis. For information, contact Dr. Virginia Kimonis, MD (vkimonis@uci.edu; 949 824 0571 or fax: 714 456 5330) or research coordinator Dr. June-Anne Gold (goldj@uci.edu or 949 824-0521).
COX and EGFR Inhibition in Familial Adenomatous Polyposis Patients
This study is a phase II, six-month-long, double-blind clinical trial for patients with a clinical or genetic diagnosis of FAP or attenuated FAP. The goal of this study is to determine if the combination of sulindac (COX inhibitor) and erlotinib (EGFR inhibitor) causes a significant regression of duodenal polyps as compared with placebo. An initial endoscopy is performed whereby duodenal polyps are counted, measured, and mapped. Patients with a qualifying number of polyps are randomized on to study drug or placebo. There is a short clinic visit at month 3 (to take place in your home town) and at month 6, an endpoint endoscopy is performed with final measurement and mapping of duodenal polyps. All procedures, tests, medications are provided by the study and are at no cost to you. The study is looking for patients who are 18 years to 69 years at time of enrollment with a clinical or genetic diagnosis of FAP or attenuated AFAP. For more information please contact Therese Berry, Clinical Research Coordinator Phone: 801-581-3917 or email therese.berry@hci.utah.edu. ClinicalTrials.gov Identifier: NCT01187901.
Disorders of Puberty and Reproduction
Researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the NIH are conducting two studies of people who have reproductive disorders. The studies will look into how genes and production of gonadotropin-releasing hormone affect puberty and infertility. Individuals 14 years of age and older with low testosterone or estrogen may be eligible. More information is available at ClinicalTrials.gov identifier: NCT01500447 and ClinicalTrials.gov identifier: NCT01511588 or by contacting UGPR@mail.nih.gov
Epidermolysis Bullosa (EB)
A phase 3 study will evaluate the efficacy and safety of a dermal substitute therapy for the treatment of non-healing wounds in patients with EB. ClinicalTrials.gov Identifier: NCT01749306.
Familial Adenomatous Polyposis (FAP)
A phase 2, six-month-long, double-blind clinical trial for patients with a clinical or genetic diagnosis of FAP or attenuated FAP is being conducted that compares an investigational therapy with placebo. Contact Therese Berry, Clinical Research Coordinator (801-581-3917 or therese.berry@hci.utah.edu). ClinicalTrials.gov Identifier: NCT01187901.
Fibromuscular Dysplasia (FMD)
The Fibromuscular Dysplasia Society of America is collaborating with the Cleveland Clinic and Mayo Clinic on a research study to identify genetic factors that may influence susceptibility to certain vascular diseases like FMD. The objectives are to find new methods for prevention, diagnosis and treatment, and investigate the prevalence of traditional cardiovascular risk factors in individuals and family members with FMD. Patients with FMD and their first-degree family members (such as parents, siblings, and adult children) may volunteer to participate. Participation will involve giving consent, completing a medical questionnaire, and collecting a blood sample. If you wish to obtain more information about this study please feel free to contact pam.mace@fmdsa.org.
Fragile X Syndrome
The University of North Carolina at Chapel Hill and Washington University in St. Louis are currently recruiting for a study of Fragile X and brain development in infants with Fragile X. They are looking for children under the age of 12 months who are suspected of having Fragile X (parents who are expecting may also be eligible.) and need 30 participants in the US who meet the following criteria: 1) Are under 12 months of age (parents who are expecting may also be eligible) and 2) Have diagnosis of Fragile X (full or premutation) or are suspected of having Fragile X or have an older sibling with Fragile X. For more information visit http://www.ibisnetwork.org/fragilex/.
Freeman-Sheldon and Related Syndromes
The Freeman-Sheldon Research Group, Inc. is seeking participants for three studies to: (1) survey and review medical records for information about specific treatments and major problems in patients' medical history; (2) medically evaluate patients', their families', and other affected individuals' (who have spent considerable time with patients) to learn about quality of life and mental health issues relating to these syndromes; and (3) medically evaluate healthy persons and patients to compare their bodies' functioning. These studies are each designed to form a basis for improving the standard of care and developing new treatments. Persons with Freeman-Sheldon syndrome, Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 are eligible for all studies. For more information, contact the study coordinator, Maria Patterson (patterson_m@fsrgroup.org or 443-694-0057); research assistant, MI Poling (poling_mi@fsrgroup.org or 304- 460-9038); or lead researcher, RJ McCormick (mccormick_rj@fsrgroup.org or 304-472-0318); or visit the following websites: http://fsrgroup.org, ClinicalTrials.gov identifier: NCT01144741, ClinicalTrials.gov identifier: NCT01307475, and ClinicalTrials.gov identifier: NCT01306994
Hereditary Inclusion Body Myopathy (HIBM)
The HIBM Phase I clinical trial will test a single dose of the drug candidate DEX-M74 in a small group of patients with a focus on drug safety and how well patients tolerate the drug. A natural history study of HIBM is also being conducted to collect health information from patients to understand how the disease develops. More or visit ClinicalTrials.gov identifier: NCT01634750 and ClinicalTrials.gov identifier: NCT01417533.
Hirschsprung Disease
Dr. Aravinda Chakravarti’s laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.
We ask study volunteers to complete a medical/family history questionnaire, provide access to some medical records, and to submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available). If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you. For more information please contact the study coordinator, Courtney Berrios, at 410-502-7541 or hirschsprung@igm.jhmi.edu or visit https://aravindachakravartilab.org/pro/Hirschsprung_Study.html
Idiopathic Diseases of Man (IDIOM)
The IDIOM study at the Scripps Translational Science Institute is investigating rare undiagnosed diseases using whole genome sequencing. Individuals with a serious, debilitating condition, whose parents are also available for testing, may be eligible. More.
Late Onset Lysosomal Acid Lipase (LAL) Deficiency
Synageva BioPharma Corp. has launched the Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) Phase I clinical trial for late onset LAL deficiency. This study will evaluate the safety and efficacy of an enzyme replacement therapy candidate. Patients age 4 and over may be eligible to enroll. ClinicalTrials.gov Identifier: NCT01757184.
Late-Onset Pompe Disease
Genzyme is sponsoring a clinical trial called "EMBASSY", which will enroll approximately 15 people diagnosed with late-onset Pompe disease who have not yet received enzyme replacement therapy. The purpose of the study is to evaluate new ways of assessing treament with alglucosidase alpha, an enzyme replacement therapy that is approved by FDA for patients 8 years and older with late-onset Pompe disease who do not have evidence of cardiac hypertrophy (enlarged heart). ClinicalTrials.gov identifier: NCT01288027.
Liposarcoma or Leiomyosarcoma
Janssen Research & Development, L.L.C. is conducting a Phase 3 clinical trial for a product under investigation in patients with liposarcoma or leiomyosarcoma. This study is designed to compare two different drugs to treat these conditions. The study will be divided into three phases: screening, treatment, and follow-up. During screening, potential patients will be assessed for study eligibility after providing signed informed consent. During the treatment phase, patients will receive study drug once every 3 weeks, until disease progression or signs of toxicity. Assessments will be performed to evaluate the effectiveness of the drug, and patient safety will be monitored. During the follow-up phase, after the last dose of study drug, clinical outcomes for patients will be evaluated. For more information on this study, please visit www.l-sarcomastudy.com or ClinicalTrials.gov identifier: NCT01343277.
Myotubular Myopathy
The MTM Genetic Testing Study will be conducted by the CMDIR in collaboration with other groups and is funded by Valerion Therapeutics. This study will provide important data for future clinical trials including (genetically confirmed) individuals affected with MTM. Participants for this study are being recruited now. Information about this study is also posted on www.CMDIR.org under Ongoing Studies. To find out about your or your child’s eligibility to participate in the MTM Genetic Testing Study or to obtain more information, please contact the study coordinator at the CMDIR: Email: mtm@cmdir.org or Telephone: 424-265-0874 or visit ClinicalTrials.gov identifier: NCT01817946. View a flyer about the program.
Myotubular Myopathy
Purpose: This study will look at health complications connected to your (or your child’s) muscle disease, in this study called an EVENT, such as emergency room visits/hospitalizations, a reaction to a medication or a complication from a medical procedure. This information will help doctors take care of children and adults with MTM and help researchers prepare for future clinical trials.
Participation: The study involves participation in one phone survey each month for one year (for a total of 12 surveys). The first phone call is expected to take 60 minutes and subsequent monthly phone calls, 25 minutes. Records related to diagnosis, birth and emergency room visits/hospitalizations will be collected. Eligibility: English-speaking males with a confirmed diagnosis of muscle biopsy consistent with myotubular myopathy and family history consistent with X-linked inheritance and/or genetic testing are invited to participate. Contact: Dr. Sabine de Chastonay MTM Event Study Coordinator Phone: (424) 265-0874 Email: mtm@cmdir.org. Information about this study is also published on www.clinicaltrials.gov NCT 01840657.
Neurofibromatosis
The NF Registry is a patient-driven tool designed to speed recruitment for clinical trials. It is open to patients with NF1, NF2, or schwannomatosis. Parents of children with NF may register on their children’s behalf. Building this registry will benefit both NF research and the NF community. This Registry will review as many actively recruiting NF clinical trials or clinical research studies as possible. It will seek to match individual NF patients with the clinical trials most suitable for their particular characteristics. When a match is identified, the NF Registry will provide people who have agreed to be contacted with information about the study and how to contact the researchers. All personal information is confidential and is housed on a secure server in compliance with established HIPAA guidelines. It is administered by the Children’s Tumor Foundation in collaboration with PatientCrossroads. Access the registry.
Neurofibromatosis
The Washington University Neurofibromatosis (NF) Center has launched a unique internet-based NF Registry (NF1 Patient Registry Initiative) that will collect medical information to help physicians and researchers better understand the spectrum of medical problems found in children and adults with NF1. All individuals with a diagnosis of NF1 are eligible to complete the 30-minute online questionnaire. The information collected from the NF1 Registry will be used to better characterize the relationships between specific problems in NF1. In particular, researchers hope to better understand correlations between NF1 and cancer, heart problems, allergies, depression, and learning disabilities. The Washington University NF1 Registry will enable studies that aim to identify children and adults at greatest risk for specific medical problems in NF1. These studies may help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1. All information is housed on a secure server in compliance with established HIPAA guidelines. Access the registry.
Niemann-Pick Disease Type C
This Phase l clinical trial will test multiple doses of cyclodextrin in nine patients as a possible treatment for NPC. The goal is to determine a safe dose of this medication in order to conduct an expanded Phase ll trial to evaluate the effectiveness of the drug. More. ClinicalTrials.gov Identifier: NCT01747135.
PANDAS
Some children experience a sudden onset of symptoms similar to those found in obsessive-compulsive disorder that may be caused by the body's reaction to an infection with streptococcal bacteria, most commonly seen as strep throat or scarlet fever. When the body's immune system reacts against brain cells following a streptococcal infection, the condition is known as PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections). Researchers are conducting a study to determine if intravenous immunoglobulin (IVIG) is an appropriate treatment for PANDAS and its associated symptoms. ClinicalTrials.gov identifier: NCT01281969.
Partial or Generalized Epilepsy with Seizure Clusters
Upsher-Smith Laboratories, Inc is conducting the ARTEMIS1 (Acute Rescue Therapy in Epilepsy with Midazolam Intranasal Spray) study to evaluate the efficacy and safety of USL261, an investigational formulation of midazolam delivered intranasally, for the outpatient rescue treatment of seizure clusters. An informational website has been launched to provide information about this clinical trial including eligibility requirements. Visit the site. ClinicalTrials.gov identifier: NCT01390220.
Pigmented Villonodular Synovitis (PVNS)
Pigmented villonodular synovitis (PVNS) is a chronic joint disease resulting from growth of the joint lining (synovium) that can form a tumorous mass that often recurs after surgery or radiation therapy. Genetic changes in tumor tissue can result in recruitment of cells that contribute to the tumorous mass. For patients with inoperable progressive or relapsing PVNS as well as demonstrated progressive disease in the last 12 months, Plexxikon is sponsoring a clinical trial of an oral investigational drug PLX3397 which specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to ClinicalTrials.gov identifier: NCT01004861.
Pulmonary Sarcoidosis
Individuals with stage II or stage III pulmonary sarcoidosis may be eligible to participate in a study to evaluate the effects of atorvastatin (Lipitor). This study will examine whether atorvastatin, a widely used cholesterol-lowering drug, may help patients with pulmonary sarcoidosis, replacing or reducing the need for steroids such as prednisone. This study is being conducted at the NIH Clinical Center in Bethesda, Md., and all participants will come to the Clinical Center. Travel assistance may be available. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to ClinicalTrials.gov identifier: NCT00279708.
Rett Syndrome
Dr. Sakkubai Naidu from the Pediatric Clinical Research Unit of the Johns Hopkins Hospital/Kennedy Krieger Institute is initiating a double blinded placebo controlled clinical drug trial using dextromethorphan (DM) in Rett Syndrome. This study is sponsored by the FDA and Johns Hopkins Institute for Clinical and Translational Research. It will be limited to MECP2 mutation-positive children, 2 years – 9.99 years of age, and last for 3 months. The purpose of this study is to determine if there are benefits of DM on cognition, behavior, or seizures if present. Read more. ClinicalTrials.gov identifier: NCT01520363.
Salivary Gland Mucoepidermoid Cancer (MEC)
Mucoepidermoid carcinoma (MEC) is the most common salivary gland cancer. For patients with MEC who are not candidates for curative surgery or radiation, Plexxikon is sponsoring a clinical trial of an oral investigational drug targeting the cancer microenvironment (cells recruited by the cancer that promote its growth and invasion). The investigational drug PLX3397 specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to ClinicalTrials.gov identifier: NCT01004861.
Sarcoidosis
The Worldwide Sarcoidosis Research Study (WISE) is designed to gain more information about the characteristics and clinical course of sarcoidosis in order to help physicians and researchers better understand how to treat the disease. Researchers at the University of Iowa Institute for Clinical and Translational Science will be gathering information from a large number of sarcoidosis patients localed all around the world using a web-based survey. Read More. ClinicalTrials.gov identifier: NCT01610843.
Seizure Clusters
Upsher-Smith Laboratories, Inc. is sponsoring the ARTEMIS1 trial, which is enrolling eligible patients diagnosed with partial or generalized epilepsy who experience seizure clusters. This study will evaluate the use of USL261, an investigational formulation of intranasal midazolam, as a rescue therapy. ClinicalTrials.gov identifier: NCT01390220.
Systemic Sclerosis Research Study
The faSScinate clinical study is evaluating the safety and efficacy of an investigational medication for patients with systemic sclerosis (sometimes called scleroderma).
Clinical trial participants must:
- Be aged 18 or older
- Have a clinical diagnosis of systemic sclerosis
- Have had systemic sclerosis for less than 5 years
Study participants will receive study related examinations, lab tests, and investigational medication. If you are interested to learn more about the study please visit ClinicalTrials.gov identifier: NCT01532869. To receive contact information of participating centers please call 888-662-6728 (U.S. Only) and reference Study ID Number: WA27788
Urea Cycle Disorders (UCD)
A clinical trial called SELICA III sponsored by Cytonet is designed to evaluate the safety and efficacy of liver cell therapy in infants and children up to age 5 with UCD. Liver cell therapy involves collecting healthy cells from donated livers not suitable for transplantation (obtained from U.S. organ procurement organizations) which are then isolated and undergo complex processing. These cells are infused into the hepatic portal vein over six days. Researchers seek to enroll 20 patients in 12 medical centers. ClinicalTrials.gov identifier: NCT01195753.
