Current Studies

Certain studies conducted by Engage Health are closed, and recruitment is targeted to certain individuals. Other studies are open, and allow recruitment from a number of sources.

The following are current market research projects that are open to participation.

Assessing the Need for Higher Education in Patient Advocacy (US and other non-EU countries)

As the biotech/pharma stage is pushed toward a patient-focused path, the field of patient advocacy has grown.  Engage Health is helping Professional Patient Advocates in the Life Science (PPALS), a non-profit professional patient advocacy organization conduct a feasibility study to determine the need for higher education in this field. The study allows for three major groups to voice their views on this important idea;

  • Patients and families
  • HR/hiring professionals
  • Patient advocates (both those who are unaware of PPALS and those who have participated in the PPALS’s Patient Advocacy Certificate Training)

Please participate in this study to help determine the future of patient advocacy!  Please participate between now and July 20th.  The survey will take approximately 10 minutes to complete and can be found at this link or by accessing the URL below:

http://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=9l4M3m3.

Cystinosis Patients—Free Genetic Testing for Nonsense Mutations

McGill University invites cystinosis patients to join their study concerning a specific type of genetic alteration called a “Nonsense Mutation”.  Although cystinosis is caused by many different disruptions of the CTNS gene, they are particularly interested in “nonsense mutations” which trick the cell into stopping production of Cystinosin protein. Several pharmaceutical companies are working hard to develop medications related to a well-known antibiotic (gentamicin) that permits the cell to disregard nonsense mutations. To participate in the free genetic testing study and learn if you have this nonsense mutation, contact the study coordinator, Murielle Akpa, PhD  either by phone or email; phone: (514) 412-4400 ext. 22953 email: murielle.akpa@muhc.mcgill.ca.

Our client is interested in learning more from physicians about their cystinosis patients and their interest in clinical trials. To denote your interest and share your experiences, please click this link.

Diagnostic Testing for Patients with Hypotonia, Movement Disorders and Oculogyric Crises

Agilis Biotherapeutics, a clinical-stage biopharmaceutical company dedicated to advancing innovative DNA therapeutics for rare genetic diseases that affect the central nervous system, is developing an investigational gene therapy product for patients with Aromatic l-amino acid decarboxylase deficiency (AADC deficiency).

AADC deficiency is a rare neurotransmitter disorder caused by mutations in the DDC (dopa decarboxylase) gene.

 Symptoms include, but are not limited to:

  More Severe Cases Less Severe Cases
Mortality1 First 10 years of life Live into adulthood
Unexplained early onset hypotonia 1, 2

 

Can include complete arrest of motor development without gaining head control or the ability to sit, stand, or walk Developmental delay and failure to achieve motor milestones
Movement disorders1, 2 Especially oculogyric crisis, dystonia and hypokinesia
Autonomic symptoms1 Including ptosis, excessive sweating, temperature instability and nasal congestion
CNS symptoms1 Epileptic seizures, sleep disturbances, irritability, and excessive crying
GI symptoms Failure to thrive, short stature and gastrointestinal problems (diarrhea, constipation, gastroesophageal reflux, laryngomalacia and feeding difficulties)

1 Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.

2 Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71.

Because the symptoms are heterogeneous, the disorder may be underdiagnosed. 

Clinicians interested in learning about no-cost diagnostic testing options for suspected patients, or who treat patients diagnosed with AADC deficiency, are encouraged to participate by clicking AADC Deficiency Survey.

Genetic Testing in Glucose Type-1 Deficiency Syndrome (Glut1 DS) – For Physicians

Our client is sponsoring a program for physicians offering a no-cost genetic testing for their patients with symptoms of Glut1 DS or a family history of the disease. The genetic test panel includes 3 key mutations which may account for up to 47% of paroxysmal dyskinesia cases, and takes between 2-4 weeks. If you are a physician who would like to participate in this free testing program, please click on this link to complete a brief survey and request the test kits.

 

Physician Survey Regarding the Diagnosis and Treatment of Galactosialidosis and Sialidosis Type I 

Our client would like to learn more about patients with galactosialidosis and sialidosis type I, including how they are diagnosed and treated. If you are a physician who sees these patients and would like to participate in this brief survey please click here: survey. Your participation, which does not involve sharing confidential information, will help our client design future clinical trials.