For the approximately 7,000 known rare diseases, less than 10% of diseases have an FDA-approved treatment available. Due to a small number of patients, limited understanding of the variability and progression of the diseases, developing a drug or treatment for rare diseases is often challenging. As the disease is rare, finding sites to conduct clinical trials in rare diseases becomes difficult for researchers.
Rare diseases currently affect 3.5% – 5.9% of the worldwide population. In the United States, the total number of Americans living with a rare disease is between 25-30 million.
Only a few rare diseases are identified while diagnosing patients with certain conditions like infectious diseases, congenital disorders, and cancers.
As in most cases, rare diseases are not tracked, and it is hard to determine the exact number of rare diseases or how many people are affected.
What is a rare disease or orphan disease?
Definitions of rare diseases vary from country to country. In the United States, a rare disease is a condition that affects fewer than 200,000 people.
Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments.
FDA orphan drug approvals
Over the past five years, one-third of the drugs approved by the FDA are for rare diseases, and of which one-third of first-in-class New molecular entities (NMEs) is to treat rare diseases. FDA approved more than 600 orphan drugs since the passage of the Orphan Drug Act in 1983.
Researchers have performed many clinical trials in rare diseases all over the world. Many regulators provide regulatory incentives to encourage research in rare diseases to develop orphan drugs.
Besides these regulatory incentives, finding sites to conduct clinical trials in rare diseases is a nightmare for many sponsors and CRO’s. And this is because of the rarity, heterogeneity, complex patient management associated with rare conditions, patient recruitment, creating and executing an orphan drug clinical trial at sites is difficult.
Top 7 rare diseases around the world
Here is the list of the top 7 rare diseases around the world
Progeria is a genetic condition that occurs as a new mutation and characterized by a dramatic appearance, rapid aging in childhood. There is no cure for Progeria. Hutchinson-Gilford progeria is the first of the rarest disease in the world.
This disease does not have a medical name, but doctors have been able to call it a neuromuscular disease wherein the muscles in the body slowly deteriorate, which restricts movements.
Fibrodysplasia Ossificans Progressiva
The classic symptom of this disease is a malformation of the big toe. There is no known treatment for FOP, as surgery to remove the bone seems to cause the body to produce more. It affects the connective tissue.
Von Hippel-Lindau is the growth of tumors in various parts of the body. Many tumors will grow in the central nervous system and are often benign but made of blood vessels. Medically known as hemangioblastomas, these tumors can start growing in the retina, brain, and spinal cord.
Microcephaly is a very rare condition that is seen immediately at birth and sometimes even before birth. The head becomes smaller than the usual baby’s head at birth.
Many believe that this disease is caused by exposure to hazardous substances such as radiation, or genetic problems, while the baby is in the uterus.
PNP is a rare autoimmune bullous disease that causes blistering. Keratinocytes are separate from one another, leaving gaps. Many times the gap becomes filled with fluid peel, leaving skin raw and open to infection. These blisters usually appear in the mouth, throat, lips, and random places on the skin.
Morgellons is poorly understood, and some doctors seem to believe this is a chronic infectious disease. The disease has symptoms like biting, itching, or crawling sensations, filaments growing from the skin, skin lesions, memory loss, and fatigue. There are no known drugs or effective treatments for Morgellons.
While planning a rare disease clinical trial, you need to choose a region that offers better infrastructure and regulatory support, that makes your trials complete steadily. The United States is one of the preferred regions for performing rare disease studies. Let’s discuss the advantages and a few details about the rare disease clinical trial sites.
Why do you need to choose the United States for your rare disease clinical trials?
Now for these and other rare diseases, why do you need to choose the United States for your rare disease clinical trials? Let’s see the advantages below.
Top 7 advantages for conducting your rare disease clinical trials in the United States
Here are the following advantages to conduct clinical trials in the United States compared with other regions.
- Accelerated regulatory review
- Longer market exclusivity than blockbuster drugs
- Research grants from governments and private organizations
- Tax credit benefits for clinical trials
- User fee waiver
- Available patient population
Rare disease clinical trial sites in the United States
Along with regulatory support from the FDA, here are some site-level advantages for conducting clinical trials in the United States.
- Availability of qualified & experienced clinical investigator
- A large number of sites have good infrastructure to conduct clinical trials in rare disease
- Good patient recruitments and retention rates
- Effective clinical trial timelines
Top 20 most studied rare diseases in the United States
Here are the top 20 rare disease clinical trials conducted in the United States
|S No||Orphan drug number||Disease||Number of Trials|
|3||513||Acute lymphoblastic leukemia||2,142|
|6||519||Acute myeloid leukemia||2,800|
|10||217071||Renal cell carcinoma||1,689|
|12||70482||Carcinoma of esophagus||1,476|
|14||521||Chronic myeloid leukemia||1,278|
|19||52416||Mantle cell lymphoma||1,011|
|20||180242||Malignant tumors of fallopian tubes||718|
Let’s discuss each rare disease and the clinical trial sites to conduct these rare diseases.
Top rare diseases and clinical trials sites in the USA
Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.
Hodgkin lymphoma (HL) is uncommon cancer and occurs in about 1/40,000 in North America and Europe. There are about 8500 new cases reported in the United States each year. Currently, 1,310 clinical trials are ongoing in the United States.
Dana-Farber/Harvard Cancer Center (DF/HCC) conducted clinical trials of lymphoma. The DE/HCC site is an NCI-designated comprehensive cancer center that is one of the largest cancer research enterprises in the world and enrolls thousands of patients for rare disease clinical trials.
Non-Hodgkin’s lymphomas are a group of cancers of the lymphatic system. Swollen lymph nodes occur in the neck or groin and usually spread throughout the body. The cause of non-Hodgkin’s lymphomas is not known but thought to be caused by a virus. Non-Hodgkin’s Lymphomas may occur at any age.
A total of 1,972 trials are ongoing on Non-Hodgkin’s lymphomas in the United States. Sidney Kimmel Cancer Center conducted clinical trials on Non-Hodgkin’s lymphomas. The Sidney Kimmel Cancer Center comprises 32 hospitals within their network, and the center performed hundred of studies with oncology researchers and professional staff for performing orphan disease trials.
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia is a rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukemia. Currently, 1,484 clinical trials are going in the United States on Acute lymphoblastic leukemia.
MD Anderson Cancer Center has performed many clinical trials on Acute lymphoblastic leukemia to test new treatments for common and rare cancers. MD Anderson provides cancer care at several convenient locations throughout the Greater Houston area and collaborates with community hospitals and health systems nationwide through MD Anderson Cancer Network.
Hepatocellular carcinoma (HCC) is a rare disorder but the most common primary tumor of the liver in the United States. HCC often does not cause any symptoms, especially early in the disease course. Patients may not be able to receive curative treatments in late diagnosis.
A total of 647 clinical trials registered on clinicaltials.gov with 25 ongoing clinical trials in the United States.
Mayo Clinic has performed clinical trials on Hepatocellular carcinoma. Mayo Clinic has the expertise and clinical professionals in conducting many complex clinical trials, and more than a million people visit Mayo Clinic. It also has conducted clinical trials in many rare clinical trials.
Myelodysplastic syndromes (MDS) are a rare group of blood disorders that occur due to the development of disordered blood cells within the bone marrow. The three main types of blood elements (i.e., red blood cells, white blood cells, and platelets) are affected.
A total of 1,474 clinical trials registered on clinicaltials.gov with 417 ongoing clinical trials in the United States.
Montefiore Medical Center conducts clinical trials on Myelodysplastic syndrome. Montefiore Medical Center is a premier academic medical center, internationally recognized as a leader in the science-driven, patient-centered research center, and is currently conducting trials on Myelodysplastic syndrome and many other such rare diseases.
Acute myeloid leukemia
Acute myeloid leukemia (AML) is the most common acute form of leukemia in adults. Most people who develop this form of cancer are older adults; more than half of the affected individuals are 65 years old or older. Although uncommon, AML can occur in children.
Rare disease clinical trial sites such as City of Hope Medical Center are working on clinical trials in Acute Myeloid Leukemia. The City of Hope community includes professionals from various segments of clinical research to find a better treatment for rare disease patients.
A multiple myeloma is a rare form of cancer characterized by excessive production (proliferation) and improper function of few cells (plasma cells) found in the bone marrow.
Memorial Sloan Kettering cancer center team of experts performed many Multiple myeloma clinical trials. Memorial Sloan Kettering center has more than 120 research laboratories, 38 state-of-the-art core facilities with the latest research technology, and a wide range of expert services. It provides complete expertise in conducting rare disease clinical trials with experienced professionals.
Ovarian cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. Many people with early ovarian cancer have no signs or symptoms of the condition.
Clinical investigators and clinicians from Cedars-Sinai Medical Center worked upon clinical trials on the study of “pembrolizumab with standard treatment in patients with recurrent platinum-resistant ovarian cancer“. Cedars signal medical center conducts clinical trials in molecular genetics, biochemical analysis, and disease-based areas such as cancer, cardiovascular disorders, and neurosciences.
A glioma is a tumor of the central nervous system that arises from the glial stem or progenitor cells. Glial cells are widely present in the nervous system. Gliomas disease, in most cases, occurs in the brain and rarely in the spinal cord. It’s a rare disease developed in approximately 6.6 per 100,000 individuals each year. A total of 2,410 clinical trials were registered from the united states on clinicaltrials.gov, with 764 ongoing clinical trials.
The Vanderbilt-Ingram Cancer Center has a long history of excellence in conducting clinical research. Vanderbilt-Ingram Cancer Center performed Glial tumor clinical trials with Stephen Clark, MD as a principal investigator with good medical expertise and clinical trial experience.
Renal cell carcinoma
Renal cell carcinoma, though rare, is the most common form of kidney cancer found in adults. Usually, the first sign that something is wrong is the passing of blood in the urine. Other signs include flank pain and an abdominal mass. The exact cause of renal cell carcinoma is not known. However, a history of smoking is one reason to increase the risk of developing this disease.
Penn State Cancer Institute conducted clinical trials on Renal cell carcinoma at sites located at Hershey, PA. This site has performed clinical trials in various disciplines and specialization along with clinical research in rare diseases.
Glioblastoma multiforme (GBM) is the most common and deadly brain tumor in adults. The incidence in the USA and Europe is 2–3 per 100,000. By definition, an orphan disease affects up to 200,000 persons in the USA (one in every 1,500). 1,059 clinical trials were registered on clinicaltrials.gov with 318 ongoing trials.
Mid-Atlantic Epilepsy and Sleep Center, LLC has performed clinical trials on rare diseases like Glioblastma at its research site. This site has experienced clinical investigators with good medical experience and a huge portfolio of clinical trials.
Carcinoma of esophagus
A total of 58 clinical trials were registered in the United States on Carcinoma of the esophagus. Esophageal cancer is an uncommon form of cancer (malignancy) that arises in the esophagus. Esophageal cancer is characterized by abnormal, uncontrolled cellular growth that forms in tissues and cells of the esophagus. This cancer can invade surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the lymphatic system, or other means.
Hunter Holmes McGuire VA Medical Center located in Richmond, VA has been conducting clinical trials on carcinoma of the esophagus. This center draws from a panel of 37,000 patients and conducts Phase 1-4 inpatient and outpatient studies. The research programs are supported by an independent investigational pharmacy and an IRB that meets weekly. Seventy investigators conducted over 270 research studies.
Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B- cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. HL is uncommon cancer with an incidence of about 1/40,000 in North America and Europe.
A clinical trial was performed at St. Jude Children’s Research Hospital located in Memphis, TN with Kevin Krull, Ph.D. as principal investigator on Hodgkin lymphoma. St. Jude Children’s Research Hospital has a complete infrastructure to perform rare diseases and clinical trials in other disciplines. This site has also performed pediatric clinical trials.
Chronic myeloid leukemia
Chromosome mutation that occurs spontaneously is the reason for chronic myeloid leukemia. It typically affects older adults. Many people don’t develop any symptoms until the later stages of the disease. When symptoms do occur, they include bleeding easily, feeling run down or tired, weight loss, pale skin, and night sweats.
A clinical trial with the title “Ruxolitinib in Combination With Nilotinib in Chronic Myeloid Leukemia (CML) Patients” was conducted at Moffitt Cancer Center. Moffitt has experts in many areas of cancer research, including but not limited to biologists, biostatisticians, behavioral researchers, chemists, clinical trialists, etc. will full infrastructure for conducting clinical trials, especially in rare diseases.
Follicular lymphoma is a cancer that affects white blood cells called lymphocytes. Follicular lymphoma is located primarily in the lymph nodes, but can also involve the spleen, bone marrow, peripheral blood, and Waldeyer’s ring.
A clinical trial was performed by Dr. Jon Arnason, MD, as a principal investigator at Beth Israel Deaconness Medical Center on Follicular lymphoma disease. BIDMC is a world-class teaching hospital of Harvard Medical School located in the heart of Boston. BIDMC researchers run more than 850 active sponsored projects and 500 funded and non-funded clinical trials.
Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities that affect certain glands (exocrine) of the body, especially those that produce mucus. Cystic fibrosis is a life-threatening rare disease that affects approximately 30,000 people in the US.
Cystic fibrosis rare disease clinical trial was performed at CAMC Cancer Center. CAMC center conducts clinical trials in many therapeutic areas with an expert staff and a great portfolio of projects.
According to the Centers for Disease Control and Prevention (CDC) in Atlanta, malaria is uncommon in the United States, where approximately 1,200 cases are diagnosed each year. In the United States, malaria results in two to five deaths, on average, each year.
Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread mainly through airborne droplets breathed into the air by a person infected with TB.
A clinical trial on Tuberculosis is performed at Care New England (CNE) with the title “Improving Rhode Island’s Tuberculosis Preventive Services in Primary Care” CNE research center has performed many clinical trials in rare diseases along with research in other disciplines of medicine with experienced investigators and clinical professionals.
Mantle cell lymphoma
Mantle cell lymphoma (MCL) is an uncommon form of non-Hodgkin’s lymphoma (NHL), comprising about 2 to 7 percent of adult NHLs in the United States and Europe. The disease primarily affects older adults, with males representing approximately three-quarters of those with MCL.
OHSU Knight Cancer Institute performed several clinical trials along with clinical trials on a rare disease like Mantle cell lymphoma. OHSU Knight Cancer Institute has facilitated resources for conducting clinical trials along with experienced clinical trial professionals.
Malignant tumor of fallopian tubes
Fallopian tube cancer develops in the tubes that connect a woman’s ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor.
Levi S. Downs, a principal investigator at Masonic Cancer Center located in Minneapolis, MN, has performed a clinical trial on Malignant tumors of fallopian tubes. The purpose of the clinical; trial was to determine the maximum tolerated dose of lenalidomide when combined with fixed-dose pegylated liposomal doxorubicin hydrochloride in women with recurrent ovarian epithelial, fallopian tube, or primary peritoneal cancer. Along with this trial, Masonic Cancer Center has performed many clinical trials in rare diseases and has a great portfolio of successful projects.
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