Research

NORD posts information on this page about current studies for which participants are being recruited. NORD does not promote, endorse, or encourage participation in any specific medical research. We post this page for informational purposes only, and we encourage individuals considering participating in any research project to discuss the matter with their physicians.

Ankylosing Spondylitis

Doctors at the National Institutes of Health (NIH) are seeking individuals with ankylosing spondylitis for a study seeking to identify the genes that may affect the severity of this disorder. Ankylosing spondylitis is a type of arthritis of the spine that often runs in families. Compensation is provided for participation in this study. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to www.clinicaltrials.gov.

Castleman's Disease

Castleman's disease is a rare, atypical lymphoproliferative disorder. An ongoing clinical research study is enrolling patients with Castleman's disease. The purpose of this study is to evaluate different doses and schedules of CNTO 328 to see which dose/schedule is safe. This research study will use a type of drug called anti-IL-6 antibody, also known as CNTO 328. This study is being conducted at 10 centers in the United States. For more information, go to www.clinicaltrials.gov (identifier: NCT00412321).

Cervical Dystonia

Allergan has launched a Phase 2 clinical trial to evaluate botulinum toxin type A for the treatment of cervical dystonia. Due to the low incidence of the disease — roughly 125,000 cases in North America — and that patients suffering with CD symptoms initially seek treatment from physicians who may not have much exposure to the disease, this condition can be misdiagnosed as Parkinson's, wry neck, cerebral palsy, or muscular dystrophy.

In an effort to reach these physicians and other healthcare professionals who have had limited experience with CD, Allergan has initiated The CD Research Awareness Initiative to facilitate diagnosis and provide an option for patients who would otherwise not seek or be able to afford treatment.

The study is open to male and female patients, ages 18 - 75, who have never received treatment with botulinum toxin or any serotype for treatment of cervical dystonia or for any other condition. The duration of the study is variable per patient; between 50 and 60 weeks.

For more information about The CD Research Awareness Initiative or the clinical research study call (866) 477-9792 or visit www.mycdstudy.com.

Cervical Dystonia

An ongoing clinical research study is evaluating the safety and effectiveness of two different doses of an investigational compound called NT 201 as a possible treatment for the movement disorder, cervical dystonia. The study drug is a pure version of botulinum neurotoxin type A. This study is being conducted at approximately 35 centers across the U.S. For information, visit www.dystoniastudies.com or call (800) 984-0408.

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).

Enlarged Gums

People who have enlarged gums and are taking dilantin, cyclosporine or calcium channel-blockers may be eligible to take part in an NIH study. All study-related tests and medications at the NIH Clinical Center in Bethesda, Md., will be provided at no cost. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to www.clinicaltrials.gov.

Eosinophilic Esophagitis

A clinical trial in pediatric eosinophilic esophagitis patients to study Oral Viscous Budesonide (OVB) is underway.

This trial is evaluating the safety and efficacy of OVB in children and adolescents and is being conducted at multiple centers of excellence in the treatment of gastrointestinal diseases in the U.S. This study, which has a 12-week treatment period, includes patients 2 to 18 years of age and is evaluating three different doses of OVB versus an inactive medicine. The study is measuring each patient’s response to therapy by measuring the number of eosinophils in the esophagus before and after OVB administration, as well as evaluating the changes in the patients’ symptoms.

Budesonide has been approved by the Food and Drug Administration for treating asthma and other diseases in children and adults. The oral formulation of budesonide being used in the clinical study is designed to deliver budesonide to the esophagus and is intended to treat local eosinophilic inflammation and associated symptoms. More information about the trial can be found at meritagepharma.com/ovb.html, (keywords: Oral Viscous Budesonide) or by consulting your physician.
For more information on the trials you may also contact:

Joanne M. Vitanza, M.D.
Meritage Pharma, Inc.
vitanza@meritagepharma.com
303-947-1944 Mobile

Hyperemesis Gravidarum

Hyperemesis Gravidarum is severe nausea and vomiting of pregnancy requiring intravenous hydration and/or nutritional support. This is a study to identify epidemiologic and genetic factors involved in Hyperemesis Gravidarum. There is no cost or travel associated with this study. For more information please contact Dr. Marlena Fejzo at nvpstudy@usc.edu .

This study is run by Dr. Marlena S. Fejzo and Dr. T. M. Goodwin at the University of Southern California, Los Angeles, is supported in part by the Intramural Research Program of the National Institute of Child Health and Human Development, National Institute of Health, Department of Health and Human Services, and has been approved by the USC Institutional Review Board HS-06-00056.

Hereditary Angioedema

Hereditary angioedema (HAE) is a rare genetic disorder caused by a missing protein, C-1 inhibitor. The disease causes sudden attacks of severe, often painful, swelling affecting the hands, feet, face, intestinal tract, genitalia, and, in cases that may become life-threatening, upper airways.

Dyax Corporation is currently recruiting patients for a Phase III trial (EDEMA4) of subcutaneously administered DX-88 (ecallantide), which blocks the generation of the chemical responsible for the swelling. People 10 years and older with HAE may be eligible for the study, which is being conducted at more than 30 centers throughout the U.S. For information, call (888) 675-9575 or (617) 250-5501, or visit the company's website at www.dyax.com/HAE/HAE-trial.html.

GTC is actively recruiting patients with confirmed HD to participate in a second clinical trial. Results from this research will be used to support a US application for marketing authorization, and expand the current label in Europe. The study will assess the incidence of thromboembolic events following prophylactic administration of recombinant human antithrombin during surgery or childbirth.

For more information please visit www.ATIII.com, call 877 865-0645, or email GTC at ATinfo@GTC-BIO.com.

Hirschsprung Disease

Researchers in the laboratory of Dr. Aravinda Chakravarti at Johns Hopkins Medicine have been studying Hirschsprung Disease for more than 15 years and are working to understand the disease at a genetic level. They accept blood samples from individuals with the disease and their family members. Details about the genetics of Hirschsprung Disease and about this study may be found at the following web address: http://www.hopkinsmedicine.org/geneticmedicine/CR/
Hirschsprung/JHResearchStudy.html or by calling Julie Muskett, genetic counselor, at (410) 502-7541.

Homyzygous Familial Hypercholesterolemia

Doctors at the University of Pennsylvania are conducting a research study in patients with homozygous familial hypercholesterolemia. Patients with this condition have very high levels of cholesterol that runs in their family. The purpose of this study is to look at how well a new medication that is known to lower cholesterol, AEGR-733, works and how safe it is when taken in combination with other medications or treatments that lower cholesterol. The study will involve 16 visits to the Clinical and Translational Research Center at the Hospital of the University of Pennsylvania during a one and a half year period. Patients who participate in the study will be compensated for time and travel to and from the study site for each visit. For information call Dr. Marina Cuchel at 215-746-2834 or write to mcuchel@mail.med.upenn.edu.

Neurofibromatosis Type I

Researchers at the NIH are conducting a study to explore the growth of skin tumors in patients with NF1. Investigators wish to learn how fast these tumors grow in NF1 patients, how often new tumors appear and what genes are involved in the growth of the tumors. Results from this study may help doctors plan future trials to study medicines that control the growth of skin tumors. If you are 20-50 years of age and have been diagnosed with NF1, you may be eligible to participate in this study. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to www.clinicaltrials.gov.

Neurofibromatosis Type 2 (NF2)

The Ohio State University Department of Otolaryngology-Head and Neck Surgery is looking for patients with neurofibromatosis type 2 (NF2) to participate in a study. The purposes of the study are to determine the frequency of birth defects and miscarriages in patients with NF2 and to determine the frequency of colorblindness in NF2 patients. Individuals over 18 with NF2 are eligible to participate and will be asked to complete a confidential 5-10 minute questionnaire. To enroll in the study and to receive a study packet contact Beth Miles-Markley, research assistant to Dr. Bradley Welling, at (614)366-9244 or Beth.Miles-Markley@osumc.edu .

Phase III Trial of Coenzyme Q10 in Mitochondrial Disease

The University of Florida is continuing to recruit patients for a clinical trial to investigate the safety and effectiveness of Coenzyme Q10 (CoQ10) as a treatment for children with specific mitochondrial diseases. CoQ10 is a mitochondrial cofactor and antioxidant in the process that cells use to convert food and oxygen into energy. To be considered for the trial, patients must be 12 months to 17 years of age and have a biochemical or molecular diagnosis of a deficiency of complex I, III or IV of the respiratory chain. For additional information contact Tracie Kurtz, RN, at Tracie.Kurtz@medicine.ufl.edu or 352-273-9016.

Pediatric Medical Device Study

The FDA is initiating a study to identify scientific and medical issues (e.g., human factors, safety, and usability) with pediatric neurologic devices in children undergoing treatment. The ASK CHILDREN (Assess Specific Kinds of CHILDREN Challenges) study is being undertaken in order to develop more efficient strategies in evaluating products regulated by the FDA. Data will be collected from approximately 100 children including patients aged 7 to15 years old implanted with cerebral spinal fluid shunts, cochlear implants and deep brain stimulators, and patients aged 14 and 15 years old implanted with spinal cord stimulators. For more information about participating in this study please visit www.askchildrenstudy.org or call Carlos Pena, PhD, MS at 301-827-6687 or Kristen Bowsher, PhD, at 240-276-3605.

PICASSO Trial: Soft-tissue Sarcoma

ZIOPHARM Oncology is now enrolling patients in a Phase II randomized controlled trial of the orphan drug palifosfamide combined with doxorubicin for the treatment of patients with unresectable (can't be removed by surgery) or metastatic soft-tissue sarcoma (STS). This study, which is being conducted at several centers, compares the use of the combination therapy with the use of doxorubicin alone. At the same time, safety, tolerability, and the response of the patients to both regimens are being assessed.

To be eligible, patients should have been diagnosed with advanced, histologically confirmed STS excluding alveolar soft-part sarcoma, chondrosarcoma, dermatofibrosarcoma, Ewing sarcoma, GIST, Kaposi sarcoma, mixed mesodermal tumor, osteosarcoma, radiation-induced sarcoma and unresectable low-grade liposarcoma, and have front-line or second-line metastatic diease or advanced local disease. Patients may have failed adjuvant therapy.

Additional information regarding this study, known as the PICASSO trial, for both patients and providers can be found at www.ziopharm.com and www.clinicaltrials.gov. A listing of participating study sites can also be found at these websites.

Prenatal Diagnosis of Genetic Anomaly or Birth Defect

A women's health nurse practitioner and doctoral candidate at Virginia Commonwealth University is conducting an online survey to help determine the needs of women who choose to continue a pregnancy after receiving a prenatal diagnosis of a genetic anomaly or birth defect. The survey is posted at surveymonkey.com.

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 www.clinicaltrials.gov.

Restless Leg Syndrome

Restless Leg syndrome, commonly referred to as RLS, is a neurological condition that is characterized by the irresistible urge to move the legs. Women are diagnosed with RLS two times more frequently than men are. People who have had RLS for at least six months may be eligible to participate in a clinical trial known as Study A0081183. This research study is designed to assess different dosing amounts of an investigational drug for people with RLS. For information, call (800) 617-4922 or go to
www.rls-study.com.

Turner Syndrome

The National Institute of Child Health and Human Development is conducting a natural history study for females age 10 through 70 with a caryotype showing evidence of Turner syndrome. In this syndrome, a female does not have the usual pair of two complete X chromosomes. Participants in the study will receive study-related comprehensive evaluation (including cardiac evaluation with MRI, bone density, risk for diabetes, and ovarian function) at no cost. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to www.clinicaltrials.gov.

Unverricht-Lundborg Disease

Unverricht-Lundborg disease (ULD) is a genetic form of progressive epilepsy that causes movement disorders (myolconus) and seizures. A study is underway to test the effectiveness and safety of different dosages of a new medication in reducing the myoclonus and functional disability related to this disorder. People 16 or older with diagnosed ULD confirmed by appropriate genetic testing may be eligible. The study is being conducted at numerous locations within the U.S. and Canada. For information, go to www.uldstudy.com or call (tollfree) 877-822-9493.

Wegener's Granulomatosis

Wegener's granulomatosis is a multisystem disorder that causes inflammation in blood vessels (vasculitis), restricting blood flow to various organs. There is evidence to suggest that it may be caused by a combination of environmental and genetic factors. To better understand its causes, a study is in progress at Mount Sinai Hospital in Toronto to identify "susceptibility genes" that would increase one's risk for developing this disorder.

Blood samples are being collected for DNA analysis from WG patients and their immediate family members. Clinical data are also being reviewed. For information, contact Alida Pokoradi, the clinical research coordinator, at (416) 946-4501 ext. 3297 or clinicalgenet.research@gmail.com or go to: www.vasculitisfoundation.org/node/16.