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.

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 nNeck, 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.

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.

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.

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.

Hereditary Antithrombin Deficiency

Hereditary Antithrombin Deficiency [HD] is a rare genetic clotting disorder that results in abnormally low or dysfunctional levels of the natural anticoagulant, antithrombin. Individuals with HD are at increased risk for venous thrombosis and pulmonary embolism, particularly during high risk procedures like surgery and childbirth when people may normally be at an elevated risk for clotting.

GTC Biotherapeutics has developed recombinant human antithrombin, the only recombinant form of antithrombin currently available. Other forms of antithrombin are derived from pooled human plasma. Recombinant human antithrombin is approved for use in Europe.

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.

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.

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.