• Clinical Trials

Requests for referrals should be initiated by contacting Dr. Bonkowsky (joshua.bonkowsky@hsc.utah.edu) or Emily Hardy (emily.hardy@hsc.utah.edu or 801-213-7701).

Provides evaluation, diagnosis, and treatment of inherited leukodystrophies (including adrenomyeloneuropathy) for:

• prenatal and pregnancy counseling,
• newborns,
• children,
• adolescents, and
• adults

If families are interested, they can enroll in the Western Leukodystrophy Project, one of the largest longitudinal studies of children with leukodystrophies.

The Leukodystrophy Clinic is also a Leukodystrophy Care Network Certified Center, meeting or exceeding the Criteria for LCN Center Certification.

Josh Bonkowsky, MD, PhD

See website or contact for additional provider names and specialties. All providers may not provide all services.

Provides personalized genetic therapies and therapy development, including rapid genetic testing and research on whole genome sequencing.

Initial efforts are focused on providing answers to critically-ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Josh Bonkowsky, MD, PhD- Director

Provides resources and support for individuals and families living with Angelman Syndrome. Offers a Family Resource Team to help find needed resources; educational programs and Angelman Syndrome Resources. 

Angelman Collaborative Research Partnership- notes two studies, one related to identifying biomarkers that could be used to assess the effects of drugs on AS and the other evaluating measures and technologies related to problems areas such as sleep, communication, and brain activity.

Angelman Syndrome Foundation Contact Registry- asks for contact and demographic data for individuals with Angelman syndrome and their families so they can: notify potential participants about Angelman research trials and alert families about recent events and research findings.

Undiagnosed Diseases Network (UDN) is a research study that seeks to provide answers for patients and families affected by mysterious conditions. Clinical sites located throughout the U.S.

• Clinical Trials
• Disease/Disability Information
• Specialized Information and Referral

Works with research partners from all over the world to engage families and adults with autism in research studies. All of the studies are evaluated for scientific merit, and a SPARK scientific committee approves them. SPARK matches participants with research studies based on characteristics such as age, diagnosis, medical history, location and more. Some of these studies are online, and some are in person.

SPARK does not share any information with researchers until participants give their permission. Participants in SPARK are always in control.

Simons Foundation Powering Autism Research for Knowledge (SPARK)

NIDDK research creates knowledge about and treatments for diseases that are among the most chronic, costly, and consequential for patients, their families, and the Nation. Offers clinical trials, financial assistance for researchers, health information, and publications.

Individuals with spinal muscular atrophy (SMA)

Funds and directs comprehensive research that drives breakthroughs in treatment and care, and provides families the support they need. Local and national programs.

Services Include:

• An equipment pool loans medical equipment free of charge
• Annual conference
• Web-based location finder for support in your area

Adolescents (ages 14-20) must have lost a minimum of 10 pounds as teenagers and maintained this weight loss for at least 1 year.

Provides a questionnaire and interview study to learn more about adolescent weight loss and maintenance. Adolescents will complete questionnaires and a brief interview regarding their weight loss experience. Parent participation is also encouraged, but not required. Adolescents and parents will be compensated for their time.

Conducts various alcoholism research studies at the NIH campus in Bethesda, Maryland. While participating in medical research, you will receive standard treatment for alcoholism, which includes motivational and cognitive behavior therapies; individual, group and family counseling; and an option of attending self-help groups such as AA and more.

Provides listing of clinical trials including Angelman syndrome and others.